Variant report

Variant	esv3372612
Chromosome Location	chr16:30709076-30711624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:728)
CpG islands
(count:673)
Chromatin interactive
region (count:98)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:728 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:30709391-30709789	K562	blood:	n/a	chr16:30709461-30709476
2	ARID3A	chr16:30710317-30710645	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:30709280-30709742	HepG2	liver:	n/a	chr16:30709461-30709476
4	ARID3A	chr16:30710423-30710727	K562	blood:	n/a	n/a
5	ATF1	chr16:30709211-30709952	K562	blood:	n/a	n/a
6	ATF2	chr16:30709213-30709793	GM12878	blood:	n/a	n/a
7	ATF2	chr16:30709188-30709854	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr16:30709204-30709905	GM12878	blood:	n/a	n/a
9	ATF2	chr16:30709244-30709902	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr16:30709246-30710003	A549	lung:	n/a	chr16:30709476-30709485 chr16:30709942-30709951 chr16:30709940-30709949
11	ATF3	chr16:30709856-30710506	A549	lung:	n/a	chr16:30710433-30710442 chr16:30709942-30709951 chr16:30710122-30710131 chr16:30710166-30710175 chr16:30709940-30709949 chr16:30710164-30710173
12	BACH1	chr16:30710153-30710620	K562	blood:	n/a	n/a
13	BACH1	chr16:30709271-30710695	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr16:30710137-30710394	GM12878	blood:	n/a	n/a
15	BCL3	chr16:30709191-30711042	A549	lung:	n/a	chr16:30710802-30710810 chr16:30710877-30710886 chr16:30709567-30709580 chr16:30709976-30709989
16	BCL3	chr16:30709260-30710277	A549	lung:	n/a	chr16:30709567-30709580 chr16:30709976-30709989
17	BCL3	chr16:30710325-30710869	A549	lung:	n/a	chr16:30710802-30710810
18	BCLAF1	chr16:30709265-30710757	GM12878	blood:	n/a	chr16:30709567-30709580 chr16:30709976-30709989
19	BCLAF1	chr16:30709132-30710626	K562	blood:	n/a	chr16:30709567-30709580 chr16:30709976-30709989
20	BCLAF1	chr16:30709190-30709904	GM12878	blood:	n/a	chr16:30709567-30709580
21	BCLAF1	chr16:30710118-30710797	GM12878	blood:	n/a	n/a
22	BHLHE40	chr16:30709216-30709917	K562	blood:	n/a	chr16:30709567-30709583
23	BHLHE40	chr16:30709217-30710700	HepG2	liver:	n/a	chr16:30709567-30709583
24	BHLHE40	chr16:30709220-30710669	GM12878	blood:	n/a	chr16:30709567-30709583
25	BHLHE40	chr16:30710169-30710738	K562	blood:	n/a	n/a
26	BRCA1	chr16:30709219-30709852	H1-hESC	embryonic stem cell:	n/a	chr16:30709461-30709470
27	BRCA1	chr16:30709204-30709950	Hela-S3	cervix:	n/a	chr16:30709461-30709470
28	BRCA1	chr16:30709135-30710196	GM12878	blood:	n/a	chr16:30709461-30709470
29	BRCA1	chr16:30709261-30710060	HepG2	liver:	n/a	chr16:30709461-30709470
30	BRCA1	chr16:30710240-30710717	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr16:30710503-30710567	H1-hESC	embryonic stem cell:	n/a	n/a
32	CBX3	chr16:30708656-30710845	K562	blood:	n/a	chr16:30709044-30709055
33	CCNT2	chr16:30709212-30710584	K562	blood:	n/a	chr16:30710433-30710442
34	CEBPB	chr16:30709551-30709740	HepG2	liver:	n/a	n/a
35	CEBPB	chr16:30709315-30709663	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr16:30709325-30709803	GM12878	blood:	n/a	n/a
37	CEBPB	chr16:30710456-30710656	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPD	chr16:30709315-30710847	K562	blood:	n/a	n/a
39	CEBPD	chr16:30710172-30710517	HepG2	liver:	n/a	n/a
40	CEBPD	chr16:30709094-30710653	HepG2	liver:	n/a	n/a
41	CEBPD	chr16:30709328-30709950	HepG2	liver:	n/a	n/a
42	CHD1	chr16:30709402-30710745	H1-hESC	embryonic stem cell:	n/a	chr16:30709461-30709470 chr16:30709865-30709875
43	CHD1	chr16:30709317-30710663	GM12878	blood:	n/a	chr16:30709461-30709470 chr16:30709865-30709875 chr16:30709332-30709339
44	CHD1	chr16:30708781-30711645	IMR90	lung:	n/a	chr16:30709461-30709470 chr16:30709865-30709875 chr16:30709332-30709339
45	CHD2	chr16:30709177-30710664	HepG2	liver:	n/a	chr16:30709461-30709470 chr16:30709865-30709875 chr16:30709332-30709339
46	CHD2	chr16:30709163-30710836	Hela-S3	cervix:	n/a	chr16:30709461-30709470 chr16:30709865-30709875 chr16:30709332-30709339
47	CHD2	chr16:30710163-30710710	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr16:30709146-30709958	H1-hESC	embryonic stem cell:	n/a	chr16:30709461-30709470 chr16:30709865-30709875 chr16:30709332-30709339
49	CHD2	chr16:30709179-30710701	GM12878	blood:	n/a	chr16:30709461-30709470 chr16:30709865-30709875 chr16:30709332-30709339
50	CHD2	chr16:30709113-30710657	K562	blood:	n/a	chr16:30709461-30709470 chr16:30709865-30709875 chr16:30709332-30709339

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30709778-30709828	SK-N-SH_RA	brain:	n/a
2	chr16:30710293-30710343	NHDF-neo	bronchial:	n/a
3	chr16:30709778-30709828	SK-N-SH_RA	brain:	n/a
4	chr16:30710293-30710343	NHDF-neo	bronchial:	n/a
5	chr16:30709566-30709616	HAEpiC	amniotic membrane:	n/a
6	chr16:30709328-30709378	SK-N-MC	brain:	n/a
7	chr16:30710278-30710328	BE2_C	brain:	n/a
8	chr16:30710347-30710397	SK-N-SH_RA	brain:	n/a
9	chr16:30710293-30710343	HAEpiC	amniotic membrane:	n/a
10	chr16:30710278-30710328	U87	brain:	n/a
11	chr16:30710486-30710536	NH-A	brain:	n/a
12	chr16:30710293-30710343	MCF-7	breast:	n/a
13	chr16:30710486-30710536	NHDF-neo	bronchial:	n/a
14	chr16:30710347-30710397	HL-60	blood:	n/a
15	chr16:30710912-30710962	Hela-S3	cervix:	n/a
16	chr16:30709566-30709616	HMEC	breast:	n/a
17	chr16:30710293-30710343	H1-hESC	embryonic stem cell:	embryo
18	chr16:30710293-30710343	HIPEpiC	eye:	n/a
19	chr16:30710293-30710343	HepG2	liver:	n/a
20	chr16:30710486-30710536	HCPEpiC	choroid plexus:	n/a
21	chr16:30709328-30709378	RPTEC	kidney:	n/a
22	chr16:30710347-30710397	Jurkat	blood:	n/a
23	chr16:30710912-30710962	HCF	heart:	n/a
24	chr16:30710278-30710328	ProgFib	skin:	n/a
25	chr16:30710347-30710397	HepG2	liver:	n/a
26	chr16:30709711-30709761	AG04449	skin:	fetal
27	chr16:30710486-30710536	BJ	skin:	n/a
28	chr16:30710912-30710962	LNCaP	prostate:	n/a
29	chr16:30709162-30709212	PrEC	prostate:	n/a
30	chr16:30709778-30709828	H1-hESC	embryonic stem cell:	embryo
31	chr16:30710278-30710328	CMK	blood:	n/a
32	chr16:30709711-30709761	PrEC	prostate:	n/a
33	chr16:30709586-30709636	A549	lung:	n/a
34	chr16:30710912-30710962	NT2-D1	testis:	n/a
35	chr16:30710278-30710328	BJ	skin:	n/a
36	chr16:30709586-30709636	Hepatocyte	liver:	n/a
37	chr16:30709162-30709212	SKMC	muscle:	n/a
38	chr16:30709586-30709636	SK-N-SH	brain:	n/a
39	chr16:30709586-30709636	Jurkat	blood:	n/a
40	chr16:30710486-30710536	HEEpiC	esophagus:	n/a
41	chr16:30710293-30710343	SK-N-SH	brain:	n/a
42	chr16:30709328-30709378	HRPEpiC	eye:	n/a
43	chr16:30710293-30710343	SAEC	small airway:	n/a
44	chr16:30710912-30710962	GM06990	blood:	n/a
45	chr16:30709328-30709378	BJ	skin:	n/a
46	chr16:30709778-30709828	GM12892	blood:	n/a
47	chr16:30709586-30709636	MCF10A-Er-Src	breast:	n/a
48	chr16:30710278-30710328	NH-A	brain:	n/a
49	chr16:30709711-30709761	T-47D	breast:	n/a
50	chr16:30710912-30710962	PFSK-1	brain:	n/a

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:30660345..30663986-chr16:30707025..30711349,10	K562	blood:
2	chr16:30102105..30104221-chr16:30710076..30711578,2	MCF-7	breast:
3	chr16:30674962..30677872-chr16:30707305..30709210,3	K562	blood:
4	chr16:30455713..30457850-chr16:30709023..30710927,2	K562	blood:
5	chr16:30708138..30712367-chr16:30742355..30746018,6	K562	blood:
6	chr16:30709491..30711617-chr16:30777557..30779152,2	K562	blood:
7	chr16:30123424..30125904-chr16:30709036..30711969,2	K562	blood:
8	chr16:30709500..30711717-chr16:31190248..31191999,2	MCF-7	breast:
9	chr16:30709821..30710806-chr17:80056136..80056748,2	Hela-S3	cervix:
10	chr16:30706444..30711338-chr16:30796616..30799537,5	MCF-7	breast:
11	chr16:30709491..30711617-chr16:30777557..30779616,3	K562	blood:
12	chr1:11967871..11968868-chr16:30709558..30710138,2	Hela-S3	cervix:
13	chr16:30710536..30712181-chr16:30733046..30734815,2	K562	blood:
14	chr16:30667507..30674392-chr16:30704170..30712522,40	MCF-7	breast:
15	chr16:30667783..30674540-chr16:30707310..30714065,38	K562	blood:
16	chr16:30074836..30077502-chr16:30708652..30710947,2	MCF-7	breast:
17	chr16:30708001..30712248-chr16:30758568..30761366,5	K562	blood:
18	chr15:31619684..31620471-chr16:30709793..30710319,2	Hela-S3	cervix:
19	chr16:30708426..30712348-chr16:30772033..30775384,7	MCF-7	breast:
20	chr16:30708929..30712034-chr16:30758251..30761730,4	K562	blood:
21	chr16:30197379..30199709-chr16:30708853..30710594,2	MCF-7	breast:
22	chr16:30709959..30711642-chr16:30773675..30775818,2	K562	blood:
23	chr16:30709290..30710319-chr5:43483061..43484030,3	Hela-S3	cervix:
24	chr16:30707422..30715768-chr16:30721242..30729414,24	MCF-7	breast:
25	chr16:30660833..30664856-chr16:30708365..30711306,8	MCF-7	breast:
26	chr16:30074678..30077586-chr16:30709449..30711347,4	K562	blood:
27	chr16:30077027..30079067-chr16:30707844..30710245,2	K562	blood:
28	chr16:30674544..30676988-chr16:30707710..30709714,2	K562	blood:
29	chr16:30709784..30710474-chr17:28443650..28444343,2	Hela-S3	cervix:
30	chr16:30707849..30711301-chr16:30785397..30790684,8	K562	blood:
31	chr16:30708499..30710531-chr16:30783201..30785569,2	MCF-7	breast:
32	chr16:30708909..30711747-chr16:30932178..30935236,6	MCF-7	breast:
33	chr16:30710639..30712268-chr16:30903660..30905594,2	MCF-7	breast:
34	chr16:30708565..30710498-chr16:30967693..30970480,3	K562	blood:
35	chr16:30708652..30711335-chr16:30903340..30907064,3	K562	blood:
36	chr16:30388749..30390462-chr16:30709346..30711383,3	MCF-7	breast:
37	chr16:30665347..30684079-chr16:30697204..30714344,66	MCF-7	breast:
38	chr16:30544993..30547961-chr16:30709430..30711142,2	MCF-7	breast:
39	chr16:30536903..30539690-chr16:30709455..30711215,2	K562	blood:
40	chr16:30709031..30710824-chr16:31084721..31086312,2	MCF-7	breast:
41	chr16:30085772..30087624-chr16:30709718..30711335,2	K562	blood:
42	chr16:30661889..30663821-chr16:30707860..30709367,2	K562	blood:
43	chr16:30439151..30441186-chr16:30708286..30710869,2	K562	blood:
44	chr16:30708502..30711286-chr16:30712051..30717294,7	K562	blood:
45	chr16:30709723..30710711-chr6:26157818..26158411,2	HCT-116	colon:
46	chr16:30537208..30540827-chr16:30710007..30712078,3	MCF-7	breast:
47	chr16:30708050..30711529-chr16:30932244..30936391,8	K562	blood:
48	chr16:30707774..30710242-chr16:30903925..30908030,4	MCF-7	breast:
49	chr16:30439952..30442707-chr16:30707783..30710834,3	MCF-7	breast:
50	chr16:30708936..30712121-chr16:30967511..30970972,5	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C16orf93-1	chr16:30709028-30709636	NONHSAT141802
2	lnc-C16orf93-1	chr16:30709030-30709252	ENSG00000261840.1
3	lnc-C16orf93-1	chr16:30710202-30710282	ENSG00000261840.1
4	lnc-C16orf93-1	chr16:30710216-30710266	NONHSAT141802
5	lnc-C16orf93-1	chr16:30709034-30709252	ENSG00000261840.1
6	lnc-C16orf93-1	chr16:30709457-30710379	ENSG00000261840.1

No data

Variant related genes	Relation type
SRCAP	TF binding region
ENSG00000261840	TF binding region
SRCAP	CpG island
ENSG00000261840	CpG island
ENSG00000169957	chromatin interactions
ENSG00000151093	chromatin interactions
ENSG00000180035	chromatin interactions
ENSG00000206755	chromatin interactions
ENSG00000080603	chromatin interactions
ENSG00000167395	chromatin interactions
ENSG00000151092	chromatin interactions
ENSG00000262721	chromatin interactions
ENSG00000102879	chromatin interactions
ENSG00000229809	chromatin interactions
ENSG00000261459	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000261416	chromatin interactions
ENSG00000235560	chromatin interactions
ENSG00000226953	chromatin interactions
ENSG00000102886	chromatin interactions
ENSG00000169221	chromatin interactions
ENSG00000169926	chromatin interactions
ENSG00000175505	chromatin interactions
ENSG00000265991	chromatin interactions
ENSG00000199787	chromatin interactions
ENSG00000167394	chromatin interactions
ENSG00000260083	chromatin interactions
ENSG00000103495	chromatin interactions
ENSG00000180209	chromatin interactions
ENSG00000246323	chromatin interactions
ENSG00000199071	chromatin interactions
ENSG00000099381	chromatin interactions
ENSG00000169955	chromatin interactions
ENSG00000156873	chromatin interactions
ENSG00000172466	chromatin interactions
ENSG00000179958	chromatin interactions
ENSG00000262026	chromatin interactions
ENSG00000232533	chromatin interactions
ENSG00000156860	chromatin interactions
ENSG00000102870	chromatin interactions
ENSG00000261487	chromatin interactions
ENSG00000211591	chromatin interactions
ENSG00000150281	chromatin interactions
ENSG00000203499	chromatin interactions
ENSG00000099385	chromatin interactions
ENSG00000149922	chromatin interactions
ENSG00000126653	chromatin interactions
ENSG00000196118	chromatin interactions
ENSG00000103549	chromatin interactions
ENSG00000149923	chromatin interactions
ENSG00000260852	chromatin interactions
ENSG00000149925	chromatin interactions
ENSG00000120738	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000179918	chromatin interactions
ENSG00000168566	chromatin interactions
ENSG00000222287	chromatin interactions
ENSG00000031003	chromatin interactions
ENSG00000175938	chromatin interactions
ENSG00000136950	chromatin interactions
ENSG00000156858	chromatin interactions
ENSG00000099364	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000260899	chromatin interactions
ENSG00000179965	chromatin interactions
ENSG00000137073	chromatin interactions
ENSG00000169710	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535775141	chr16:30709116-30709117	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	39 gene(s)	Overlapped CNVs	n/a
2	rs553771371	chr16:30709156-30709157	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	40 gene(s)	Overlapped CNVs	n/a
3	rs565913924	chr16:30709161-30709162	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	40 gene(s)	Overlapped CNVs	n/a
4	rs539594094	chr16:30709195-30709196	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
5	rs545902258	chr16:30709218-30709219	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
6	rs558290734	chr16:30709365-30709366	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	Overlapped CNVs	n/a
7	rs2919431	chr16:30709367-30709368	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs543857401	chr16:30709410-30709411	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	50 gene(s)	Overlapped CNVs	n/a
9	rs140273590	chr16:30709436-30709437	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	50 gene(s)	Overlapped CNVs	n/a
10	rs573938233	chr16:30709439-30709440	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	50 gene(s)	Overlapped CNVs	n/a
11	rs541751589	chr16:30709443-30709444	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	50 gene(s)	Overlapped CNVs	n/a
12	rs559795679	chr16:30709475-30709476	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	51 gene(s)	Overlapped CNVs	n/a
13	rs375748322	chr16:30709490-30709491	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	51 gene(s)	Overlapped CNVs	n/a
14	rs545158518	chr16:30709500-30709501	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	51 gene(s)	Overlapped CNVs	n/a
15	rs563854277	chr16:30709514-30709515	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	51 gene(s)	Overlapped CNVs	n/a
16	rs149731087	chr16:30709516-30709517	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	51 gene(s)	Overlapped CNVs	n/a
17	rs531280355	chr16:30709536-30709537	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	51 gene(s)	Overlapped CNVs	n/a
18	rs549590163	chr16:30709538-30709539	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	51 gene(s)	Overlapped CNVs	n/a
19	rs568086575	chr16:30709567-30709568	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	Overlapped CNVs	n/a
20	rs535039107	chr16:30709573-30709574	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	Overlapped CNVs	n/a
21	rs547672045	chr16:30709586-30709587	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	Overlapped CNVs	n/a
22	rs565937559	chr16:30709613-30709614	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	Overlapped CNVs	n/a
23	rs62057179	chr16:30709619-30709620	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	Overlapped CNVs	n/a
24	rs528559727	chr16:30709662-30709663	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	53 gene(s)	Overlapped CNVs	n/a
25	rs547007729	chr16:30709673-30709674	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	53 gene(s)	Overlapped CNVs	n/a
26	rs557955073	chr16:30709711-30709712	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	Overlapped CNVs	n/a
27	rs569843056	chr16:30709736-30709737	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	Overlapped CNVs	n/a
28	rs537578667	chr16:30709740-30709741	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	Overlapped CNVs	n/a
29	rs555572370	chr16:30709750-30709751	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	Overlapped CNVs	n/a
30	rs574029542	chr16:30709752-30709753	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	Overlapped CNVs	n/a
31	rs534666071	chr16:30709788-30709789	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	Overlapped CNVs	n/a
32	rs553639335	chr16:30709816-30709817	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	Overlapped CNVs	n/a
33	rs150441493	chr16:30709822-30709823	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	Overlapped CNVs	n/a
34	rs553666463	chr16:30709852-30709853	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	61 gene(s)	Overlapped CNVs	n/a
35	rs545220200	chr16:30709857-30709858	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	61 gene(s)	Overlapped CNVs	n/a
36	rs138207053	chr16:30709874-30709875	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	62 gene(s)	Overlapped CNVs	n/a
37	rs71149045	chr16:30709876-30709877	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	62 gene(s)	Overlapped CNVs	n/a
38	rs568133224	chr16:30709904-30709905	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	64 gene(s)	Overlapped CNVs	n/a
39	rs2972804	chr16:30709907-30709908	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	64 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191859321	chr16:30709915-30709916	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	64 gene(s)	Overlapped CNVs	n/a
41	rs543549174	chr16:30709919-30709920	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	64 gene(s)	Overlapped CNVs	n/a
42	rs367863160	chr16:30710040-30710041	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	64 gene(s)	Overlapped CNVs	n/a
43	rs561582113	chr16:30710072-30710073	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	64 gene(s)	Overlapped CNVs	n/a
44	rs115939490	chr16:30710075-30710076	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	64 gene(s)	Overlapped CNVs	n/a
45	rs571782486	chr16:30710088-30710089	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	65 gene(s)	Overlapped CNVs	n/a
46	rs547041452	chr16:30710187-30710188	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	63 gene(s)	Overlapped CNVs	n/a
47	rs369868726	chr16:30710205-30710206	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	61 gene(s)	Overlapped CNVs	n/a
48	rs531946577	chr16:30710206-30710207	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	61 gene(s)	Overlapped CNVs	n/a
49	rs533300493	chr16:30710249-30710250	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	60 gene(s)	Overlapped CNVs	n/a
50	rs533291481	chr16:30710294-30710295	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30705400-30709200	Weak transcription	Esophagus	oesophagus
2	chr16:30707000-30709400	Weak transcription	Spleen	Spleen
3	chr16:30708600-30709200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr16:30708600-30709200	Enhancers	Primary B cells from peripheral blood	blood
5	chr16:30708600-30709200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr16:30708600-30709200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:30708600-30709200	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr16:30708600-30709200	Flanking Active TSS	Hela-S3	cervix
9	chr16:30708600-30709200	Flanking Active TSS	HMEC	breast
10	chr16:30708600-30709400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr16:30708600-30709400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:30708600-30709400	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr16:30708600-30709400	Flanking Active TSS	Dnd41	blood
14	chr16:30708600-30709600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr16:30708600-30711200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:30708800-30709200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
17	chr16:30708800-30709200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:30708800-30709200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr16:30708800-30709200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr16:30708800-30709200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr16:30708800-30709200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr16:30708800-30709200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr16:30708800-30709200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr16:30708800-30709200	Flanking Active TSS	Liver	Liver
25	chr16:30708800-30709200	Flanking Active TSS	Brain Angular Gyrus	brain
26	chr16:30708800-30709200	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr16:30708800-30709200	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr16:30708800-30709200	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr16:30708800-30709200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr16:30708800-30709200	Flanking Active TSS	Fetal Heart	heart
31	chr16:30708800-30709200	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr16:30708800-30709200	Enhancers	Lung	lung
33	chr16:30708800-30709200	Weak transcription	Pancreas	Pancrea
34	chr16:30708800-30709200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr16:30708800-30709200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr16:30708800-30709200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr16:30708800-30709200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr16:30708800-30709200	Flanking Active TSS	A549	lung
39	chr16:30708800-30709200	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr16:30708800-30709200	Flanking Active TSS	HSMM	muscle
41	chr16:30708800-30709200	Flanking Active TSS	NH-A	brain
42	chr16:30708800-30709200	Flanking Active TSS	NHEK	skin
43	chr16:30708800-30709200	Flanking Active TSS	Osteobl	bone
44	chr16:30708800-30709400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr16:30708800-30709400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr16:30708800-30709400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr16:30708800-30709400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr16:30708800-30709400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr16:30708800-30709400	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr16:30708800-30709400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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