Variant report

Variant	esv3508670
Chromosome Location	chr16:30968201-30971099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:827)
CpG islands
(count:733)
Chromatin interactive
region (count:63)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:827 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:30968256-30969315	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:30968717-30969071	K562	blood:	n/a	n/a
3	ARID3A	chr16:30968251-30968451	K562	blood:	n/a	n/a
4	ATF1	chr16:30968313-30969156	K562	blood:	n/a	n/a
5	ATF2	chr16:30968487-30969153	GM12878	blood:	n/a	n/a
6	ATF2	chr16:30968501-30969366	GM12878	blood:	n/a	n/a
7	ATF2	chr16:30968599-30968997	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr16:30968601-30969152	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr16:30968718-30969178	A549	lung:	n/a	n/a
10	ATF3	chr16:30968739-30969139	K562	blood:	n/a	n/a
11	ATF3	chr16:30968663-30969113	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr16:30968770-30969323	A549	lung:	n/a	chr16:30969304-30969313
13	BACH1	chr16:30968207-30968890	K562	blood:	n/a	n/a
14	BACH1	chr16:30968277-30968620	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL3	chr16:30968029-30969322	A549	lung:	n/a	chr16:30969262-30969275 chr16:30969018-30969027
16	BCL3	chr16:30968093-30969106	A549	lung:	n/a	chr16:30969018-30969027
17	BCL3	chr16:30968355-30969155	GM12878	blood:	n/a	chr16:30969018-30969027
18	BCLAF1	chr16:30968342-30969185	GM12878	blood:	n/a	chr16:30969018-30969027
19	BCLAF1	chr16:30968246-30969132	GM12878	blood:	n/a	chr16:30969018-30969027
20	BHLHE40	chr16:30968261-30969327	K562	blood:	n/a	n/a
21	BHLHE40	chr16:30968323-30969407	GM12878	blood:	n/a	n/a
22	BHLHE40	chr16:30968171-30969441	HepG2	liver:	n/a	n/a
23	BRCA1	chr16:30969530-30969705	HepG2	liver:	n/a	n/a
24	BRCA1	chr16:30969480-30969760	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr16:30969086-30969281	GM12878	blood:	n/a	n/a
26	BRCA1	chr16:30968718-30969306	HepG2	liver:	n/a	n/a
27	BRCA1	chr16:30968272-30969162	Hela-S3	cervix:	n/a	n/a
28	CBX3	chr16:30968190-30968529	K562	blood:	n/a	n/a
29	CBX3	chr16:30968039-30969365	K562	blood:	n/a	n/a
30	CBX3	chr16:30968693-30969026	K562	blood:	n/a	n/a
31	CCNT2	chr16:30968321-30969488	K562	blood:	n/a	chr16:30968559-30968568 chr16:30969416-30969425 chr16:30969024-30969033
32	CEBPB	chr16:30968754-30968867	K562	blood:	n/a	n/a
33	CEBPB	chr16:30968744-30968892	HepG2	liver:	n/a	n/a
34	CEBPB	chr16:30969194-30969403	HepG2	liver:	n/a	n/a
35	CEBPB	chr16:30968743-30969066	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr16:30968563-30969157	GM12878	blood:	n/a	n/a
37	CEBPB	chr16:30968586-30969134	A549	lung:	n/a	n/a
38	CEBPD	chr16:30968283-30969720	HepG2	liver:	n/a	n/a
39	CEBPD	chr16:30968711-30969420	K562	blood:	n/a	n/a
40	CHD1	chr16:30968346-30969342	GM12878	blood:	n/a	chr16:30969022-30969032
41	CHD2	chr16:30968310-30969760	H1-hESC	embryonic stem cell:	n/a	chr16:30969644-30969654 chr16:30969509-30969519 chr16:30969405-30969415 chr16:30969022-30969032 chr16:30969415-30969425
42	CHD2	chr16:30968448-30968457	HepG2	liver:	n/a	n/a
43	CHD2	chr16:30968785-30969786	HepG2	liver:	n/a	chr16:30969644-30969654 chr16:30969509-30969519 chr16:30969405-30969415 chr16:30969022-30969032 chr16:30969415-30969425
44	CHD2	chr16:30968342-30969680	GM12878	blood:	n/a	chr16:30969644-30969654 chr16:30969509-30969519 chr16:30969405-30969415 chr16:30969022-30969032 chr16:30969415-30969425
45	CHD2	chr16:30968721-30969771	K562	blood:	n/a	chr16:30969644-30969654 chr16:30969509-30969519 chr16:30969405-30969415 chr16:30969022-30969032 chr16:30969415-30969425
46	CHD2	chr16:30968334-30969805	Hela-S3	cervix:	n/a	chr16:30969644-30969654 chr16:30969509-30969519 chr16:30969405-30969415 chr16:30969022-30969032 chr16:30969415-30969425
47	CREB1	chr16:30968302-30969377	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr16:30967847-30969913	HepG2	liver:	n/a	n/a
49	CREB1	chr16:30968265-30969542	A549	lung:	n/a	n/a
50	CREB1	chr16:30968220-30969534	K562	blood:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30968679-30968729	AG04449	skin:	fetal
2	chr16:30968679-30968729	AG04449	skin:	fetal
3	chr16:30969118-30969168	AoSMC	blood vessel:	n/a
4	chr16:30968426-30968476	HAEpiC	amniotic membrane:	n/a
5	chr16:30970886-30970936	ECC-1	luminal epithelium:	n/a
6	chr16:30969135-30969185	GM19239	blood:	n/a
7	chr16:30969112-30969162	SKMC	muscle:	n/a
8	chr16:30968205-30968255	CMK	blood:	n/a
9	chr16:30968521-30968571	SK-N-SH_RA	brain:	n/a
10	chr16:30968484-30968534	HUVEC	blood vessel:	n/a
11	chr16:30968551-30968601	HRCEpiC	kidney:	n/a
12	chr16:30968679-30968729	MCF10A-Er-Src	breast:	n/a
13	chr16:30968551-30968601	SK-N-MC	brain:	n/a
14	chr16:30968521-30968571	K562	blood:	n/a
15	chr16:30968521-30968571	PANC-1	pancreas:	n/a
16	chr16:30968612-30968662	NT2-D1	testis:	n/a
17	chr16:30968205-30968255	AG09319	gingival:	n/a
18	chr16:30968612-30968662	HCT-116	colon:	n/a
19	chr16:30969135-30969185	GM12892	blood:	n/a
20	chr16:30970886-30970936	NH-A	brain:	n/a
21	chr16:30969135-30969185	PANC-1	pancreas:	n/a
22	chr16:30969135-30969185	AG04450	lung:	fetal
23	chr16:30968612-30968662	HRPEpiC	eye:	n/a
24	chr16:30968521-30968571	NHDF-neo	bronchial:	n/a
25	chr16:30969112-30969162	NH-A	brain:	n/a
26	chr16:30970886-30970936	HMEC	breast:	n/a
27	chr16:30968521-30968571	Caco-2	colon:	n/a
28	chr16:30968205-30968255	MCF10A-Er-Src	breast:	n/a
29	chr16:30969112-30969162	HRE	kidney:	n/a
30	chr16:30969135-30969185	RPTEC	kidney:	n/a
31	chr16:30968484-30968534	NT2-D1	testis:	n/a
32	chr16:30969135-30969185	ovcar-3	ovarian:	n/a
33	chr16:30968551-30968601	HCM	heart:	n/a
34	chr16:30968205-30968255	AoSMC	blood vessel:	n/a
35	chr16:30968426-30968476	GM19239	blood:	n/a
36	chr16:30969791-30969841	AG04449	skin:	fetal
37	chr16:30968205-30968255	Hela-S3	cervix:	n/a
38	chr16:30968612-30968662	GM19239	blood:	n/a
39	chr16:30970886-30970936	NB4	blood:	n/a
40	chr16:30968484-30968534	PFSK-1	brain:	n/a
41	chr16:30968484-30968534	HCPEpiC	choroid plexus:	n/a
42	chr16:30968612-30968662	AG10803	skin:	n/a
43	chr16:30969135-30969185	K562	blood:	n/a
44	chr16:30968612-30968662	RPTEC	kidney:	n/a
45	chr16:30968484-30968534	GM12878	blood:	n/a
46	chr16:30969118-30969168	BJ	skin:	n/a
47	chr16:30968612-30968662	HAEpiC	amniotic membrane:	n/a
48	chr16:30970886-30970936	RPTEC	kidney:	n/a
49	chr16:30968426-30968476	NHDF-neo	bronchial:	n/a
50	chr16:30970886-30970936	BJ	skin:	n/a

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:30969245..30970179-chr19:49375428..49376336,2	Hela-S3	cervix:
2	chr16:30966729..30970735-chr16:31118988..31121519,3	MCF-7	breast:
3	chr16:30968978..30971725-chr16:31006942..31010708,4	K562	blood:
4	chr11:62623022..62623808-chr16:30969042..30969690,2	Hela-S3	cervix:
5	chr16:30661294..30664208-chr16:30968481..30971665,3	MCF-7	breast:
6	chr16:30787481..30790193-chr16:30968511..30970450,2	K562	blood:
7	chr16:30968509..30970515-chr16:31884126..31886399,2	K562	blood:
8	chr16:30906472..30908810-chr16:30967387..30969859,2	K562	blood:
9	chr16:30967386..30971624-chr16:31189375..31193961,9	K562	blood:
10	chr16:30967872..30970200-chr16:31160526..31163254,2	K562	blood:
11	chr16:30671487..30673418-chr16:30969039..30970586,2	K562	blood:
12	chr16:30967393..30971385-chr16:31083259..31086232,6	K562	blood:
13	chr16:30968251..30971465-chr16:31104162..31108928,5	MCF-7	breast:
14	chr16:30967392..30969268-chr16:31053446..31056130,2	MCF-7	breast:
15	chr16:30968166..30970668-chr16:31152878..31154603,2	MCF-7	breast:
16	chr16:30932533..30936330-chr16:30966882..30969248,5	K562	blood:
17	chr16:30967600..30970776-chr16:31084507..31087266,4	MCF-7	breast:
18	chr16:30968652..30970204-chr16:31469437..31471305,2	MCF-7	breast:
19	chr16:30968101..30970312-chr16:30994646..30997121,3	MCF-7	breast:
20	chr16:30969131..30970956-chr16:31201908..31204585,2	MCF-7	breast:
21	chr16:30971023..30973428-chr16:31042651..31045607,2	MCF-7	breast:
22	chr16:30967179..30972282-chr16:31082507..31088894,13	MCF-7	breast:
23	chr12:56367774..56368423-chr16:30968400..30968917,2	Hela-S3	cervix:
24	chr16:30967393..30971949-chr16:31083830..31088417,7	K562	blood:
25	chr16:30969106..30969751-chr6:16128998..16129869,2	Hela-S3	cervix:
26	chr16:30967350..30969220-chr16:31127239..31129159,2	MCF-7	breast:
27	chr16:30931053..30936697-chr16:30966530..30971104,6	MCF-7	breast:
28	chr16:30905169..30907164-chr16:30967632..30970611,2	K562	blood:
29	chr16:30708936..30712121-chr16:30967511..30970972,5	K562	blood:
30	chr16:30969242..30970758-chr16:31007667..31009607,2	K562	blood:
31	chr16:30967074..30970924-chr16:31469051..31472537,7	K562	blood:
32	chr16:30968063..30971621-chr16:31128915..31132343,4	K562	blood:
33	chr16:30968533..30970596-chr16:31206944..31209887,2	K562	blood:
34	chr16:30967074..30970924-chr16:31469051..31472279,6	K562	blood:
35	chr16:30885130..30887903-chr16:30968069..30970202,3	MCF-7	breast:
36	chr16:30787481..30790093-chr16:30968266..30970450,2	K562	blood:
37	chr16:30762720..30764607-chr16:30967390..30969922,2	MCF-7	breast:
38	chr16:30785225..30786834-chr16:30968758..30970807,2	K562	blood:
39	chr16:30708565..30710498-chr16:30967693..30970480,3	K562	blood:
40	chr16:30709744..30712013-chr16:30968880..30970502,2	MCF-7	breast:
41	chr16:30968345..30970795-chr16:30996661..31000962,4	MCF-7	breast:
42	chr16:30967331..30971455-chr16:31189672..31193521,14	K562	blood:
43	chr16:30936648..30939511-chr16:30968022..30970933,3	MCF-7	breast:
44	chr16:30969010..30970888-chr16:31043555..31045829,3	K562	blood:
45	chr16:30771826..30774840-chr16:30967351..30969175,3	K562	blood:
46	chr1:147735718..147736260-chr16:30968789..30969740,2	HCT-116	colon:
47	chr16:30772225..30775107-chr16:30966927..30968477,2	K562	blood:
48	chr11:65658040..65658608-chr16:30969483..30970474,2	Hela-S3	cervix:
49	chr16:30969324..30969876-chr6:74230441..74231144,2	Hela-S3	cervix:
50	chr16:30952078..30954988-chr16:30967257..30969018,2	MCF-7	breast:

No data

Variant related genes	Relation type
SETD1A	TF binding region
SETD1A	CpG island
ENSG00000199879	chromatin interactions
ENSG00000260083	chromatin interactions
ENSG00000260060	chromatin interactions
ENSG00000255439	chromatin interactions
ENSG00000268863	chromatin interactions
ENSG00000211591	chromatin interactions
ENSG00000087074	chromatin interactions
ENSG00000099377	chromatin interactions
ENSG00000196118	chromatin interactions
ENSG00000265991	chromatin interactions
ENSG00000099385	chromatin interactions
ENSG00000167397	chromatin interactions
ENSG00000252809	chromatin interactions
ENSG00000178226	chromatin interactions
ENSG00000156873	chromatin interactions
ENSG00000049656	chromatin interactions
ENSG00000185947	chromatin interactions
ENSG00000260911	chromatin interactions
ENSG00000102870	chromatin interactions
ENSG00000156858	chromatin interactions
ENSG00000099364	chromatin interactions
ENSG00000260852	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000262766	chromatin interactions
ENSG00000150281	chromatin interactions
ENSG00000167394	chromatin interactions
ENSG00000262026	chromatin interactions
ENSG00000099365	chromatin interactions
ENSG00000167395	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000007944	chromatin interactions
ENSG00000103510	chromatin interactions
ENSG00000140691	chromatin interactions
ENSG00000262721	chromatin interactions
ENSG00000169900	chromatin interactions
ENSG00000080603	chromatin interactions
ENSG00000103549	chromatin interactions
ENSG00000168003	chromatin interactions
ENSG00000156508	chromatin interactions
ENSG00000156860	chromatin interactions
ENSG00000260267	chromatin interactions
ENSG00000111540	chromatin interactions
ENSG00000103507	chromatin interactions
ENSG00000169957	chromatin interactions
ENSG00000103496	chromatin interactions
ENSG00000255717	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563025131	chr16:30968201-30968202	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
2	rs113313050	chr16:30968241-30968242	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
3	rs536003706	chr16:30968267-30968268	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
4	rs542247105	chr16:30968311-30968312	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
5	rs370812804	chr16:30968317-30968318	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
6	rs199518832	chr16:30968329-30968330	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
7	rs560280985	chr16:30968345-30968346	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
8	rs527638393	chr16:30968389-30968390	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
9	rs375037957	chr16:30968422-30968423	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
10	rs557203946	chr16:30968433-30968434	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
11	rs552913552	chr16:30968466-30968467	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
12	rs571124624	chr16:30968482-30968483	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
13	rs531964792	chr16:30968505-30968506	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
14	rs550085491	chr16:30968506-30968507	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
15	rs544704146	chr16:30968528-30968529	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
16	rs372491986	chr16:30968529-30968530	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
17	rs568970207	chr16:30968580-30968581	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
18	rs535957781	chr16:30968582-30968583	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
19	rs4889599	chr16:30968589-30968590	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	38 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs115516928	chr16:30968594-30968595	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
21	rs533508234	chr16:30968610-30968611	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
22	rs558445766	chr16:30968664-30968665	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
23	rs35844047	chr16:30968669-30968670	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
24	rs576701935	chr16:30968696-30968697	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
25	rs544427557	chr16:30968718-30968719	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
26	rs142421175	chr16:30968764-30968765	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
27	rs113782108	chr16:30969018-30969019	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
28	rs371832264	chr16:30969022-30969023	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
29	rs560593841	chr16:30969028-30969029	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
30	rs11642733	chr16:30969061-30969062	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	43 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs546192342	chr16:30969066-30969067	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
32	rs191035804	chr16:30969110-30969111	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
33	rs374354669	chr16:30969148-30969149	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
34	rs532027742	chr16:30969196-30969197	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
35	rs376040176	chr16:30969219-30969220	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
36	rs550392202	chr16:30969220-30969221	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
37	rs562140955	chr16:30969228-30969229	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
38	rs557795534	chr16:30969295-30969296	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
39	rs112085873	chr16:30969351-30969352	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
40	rs529444835	chr16:30969363-30969364	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
41	rs547992209	chr16:30969382-30969383	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
42	rs200626343	chr16:30969484-30969485	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
43	rs201675920	chr16:30969485-30969486	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
44	rs11643872	chr16:30969486-30969487	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	41 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs62055865	chr16:30969533-30969534	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
46	rs62055866	chr16:30969557-30969558	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	41 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs570451712	chr16:30969661-30969662	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
48	rs557098619	chr16:30969801-30969802	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
49	rs4321212	chr16:30969816-30969817	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	37 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs537744726	chr16:30969859-30969860	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	37 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:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30962400-30968400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:30965000-30968600	Weak transcription	Lung	lung
3	chr16:30965600-30968400	Weak transcription	Ovary	ovary
4	chr16:30967400-30968400	Flanking Active TSS	K562	blood
5	chr16:30967600-30968800	Flanking Active TSS	Dnd41	blood
6	chr16:30967800-30968400	Enhancers	Gastric	stomach
7	chr16:30967800-30968400	Enhancers	Spleen	Spleen
8	chr16:30967800-30968400	Flanking Active TSS	GM12878-XiMat	blood
9	chr16:30967800-30968400	Flanking Active TSS	HepG2	liver
10	chr16:30967800-30970000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr16:30967800-30970000	Active TSS	Brain Substantia Nigra	brain
12	chr16:30968000-30968400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:30968000-30968400	Enhancers	Primary hematopoietic stem cells	blood
14	chr16:30968000-30968400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr16:30968000-30968400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:30968000-30968400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:30968000-30968400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:30968000-30968400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:30968000-30968400	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr16:30968000-30968400	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr16:30968000-30968400	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr16:30968000-30968400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr16:30968000-30968400	Flanking Active TSS	Esophagus	oesophagus
24	chr16:30968000-30968400	Flanking Active TSS	HUVEC	blood vessel
25	chr16:30968000-30968400	Active TSS	NH-A	brain
26	chr16:30968000-30968600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:30968000-30968600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:30968000-30968600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr16:30968000-30968600	Flanking Active TSS	Colonic Mucosa	Colon
30	chr16:30968000-30968600	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr16:30968000-30968600	Flanking Active TSS	Pancreas	Pancrea
32	chr16:30968000-30968600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr16:30968000-30968600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr16:30968000-30968600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr16:30968000-30968600	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr16:30968000-30968600	Flanking Active TSS	Hela-S3	cervix
37	chr16:30968000-30968800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr16:30968000-30968800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr16:30968000-30969000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr16:30968000-30969000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:30968000-30969000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr16:30968000-30969400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr16:30968000-30969800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr16:30968000-30969800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:30968000-30969800	Active TSS	Rectal Smooth Muscle	rectum
46	chr16:30968000-30970000	Active TSS	H9 Cell Line	embryonic stem cell
47	chr16:30968000-30970000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:30968000-30970000	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr16:30968000-30970000	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr16:30968000-30970000	Active TSS	iPS-20b Cell Line	embryonic stem cell

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