Variant report

Variant	esv3325798
Chromosome Location	chr16:30405476-30408024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:751)
CpG islands
(count:671)
Chromatin interactive
region (count:26)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:751 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:30406539-30406722	K562	blood:	n/a	n/a
2	ARID3A	chr16:30407318-30407385	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:30406515-30407078	HepG2	liver:	n/a	n/a
4	ATF1	chr16:30407580-30407781	K562	blood:	n/a	n/a
5	ATF2	chr16:30406419-30406754	GM12878	blood:	n/a	n/a
6	BACH1	chr16:30406430-30406697	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr16:30407001-30407313	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr16:30406451-30406901	A549	lung:	n/a	n/a
9	BCL3	chr16:30406511-30407151	GM12878	blood:	n/a	chr16:30407013-30407026
10	BCL3	chr16:30406930-30407603	A549	lung:	n/a	chr16:30407013-30407026
11	BCLAF1	chr16:30406455-30407236	GM12878	blood:	n/a	chr16:30407013-30407026
12	BCLAF1	chr16:30406367-30406939	GM12878	blood:	n/a	n/a
13	BHLHE40	chr16:30406051-30406195	K562	blood:	n/a	n/a
14	BHLHE40	chr16:30406472-30407137	HepG2	liver:	n/a	n/a
15	BHLHE40	chr16:30407051-30407397	K562	blood:	n/a	n/a
16	BHLHE40	chr16:30406483-30406816	K562	blood:	n/a	n/a
17	BHLHE40	chr16:30406502-30407182	GM12878	blood:	n/a	n/a
18	BRCA1	chr16:30407052-30407228	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr16:30406520-30406825	HepG2	liver:	n/a	n/a
20	CBX3	chr16:30405717-30406284	K562	blood:	n/a	n/a
21	CBX3	chr16:30406355-30406795	K562	blood:	n/a	n/a
22	CCNT2	chr16:30405890-30406153	K562	blood:	n/a	n/a
23	CCNT2	chr16:30407699-30407900	K562	blood:	n/a	n/a
24	CCNT2	chr16:30406490-30407227	K562	blood:	n/a	n/a
25	CEBPB	chr16:30406516-30406674	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPD	chr16:30406406-30407000	HepG2	liver:	n/a	n/a
27	CEBPD	chr16:30405849-30406230	K562	blood:	n/a	n/a
28	CEBPD	chr16:30406393-30407131	HepG2	liver:	n/a	n/a
29	CHD1	chr16:30407492-30407689	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr16:30406486-30406737	GM12878	blood:	n/a	n/a
31	CHD1	chr16:30406569-30406599	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr16:30406606-30406609	K562	blood:	n/a	n/a
33	CHD2	chr16:30407251-30407261	K562	blood:	n/a	n/a
34	CHD2	chr16:30406517-30406778	GM12878	blood:	n/a	n/a
35	CHD2	chr16:30406534-30407518	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr16:30406395-30406769	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr16:30407187-30407437	GM12878	blood:	n/a	n/a
38	CHD2	chr16:30407194-30407373	HepG2	liver:	n/a	n/a
39	CHD2	chr16:30406535-30406735	HepG2	liver:	n/a	n/a
40	CREB1	chr16:30406360-30407268	A549	lung:	n/a	n/a
41	CREB1	chr16:30406402-30406776	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr16:30406253-30406832	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTBP2	chr16:30406532-30407299	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr16:30406309-30407498	A549	lung:	n/a	chr16:30407022-30407035 chr16:30407019-30407037 chr16:30406917-30406930
45	CTCF	chr16:30406980-30407130	GM12864	blood:	n/a	chr16:30407022-30407035 chr16:30407019-30407037
46	CTCF	chr16:30406560-30406710	AG10803	skin:	n/a	n/a
47	CTCF	chr16:30406566-30407219	K562	blood:	n/a	chr16:30407022-30407035 chr16:30407019-30407037 chr16:30406917-30406930
48	CTCF	chr16:30406560-30406710	SAEC	small airway:	n/a	n/a
49	CTCF	chr16:30406940-30407090	AG10803	skin:	n/a	chr16:30407022-30407035 chr16:30407019-30407037
50	CTCF	chr16:30406620-30406770	AG09309	skin:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30406949-30406999	MCF-7	breast:	n/a
2	chr16:30406122-30406172	Hela-S3	cervix:	n/a
3	chr16:30406318-30406368	NT2-D1	testis:	n/a
4	chr16:30407289-30407339	HepG2	liver:	n/a
5	chr16:30407213-30407263	SK-N-SH	brain:	n/a
6	chr16:30406318-30406368	HIPEpiC	eye:	n/a
7	chr16:30406318-30406368	HRCEpiC	kidney:	n/a
8	chr16:30406949-30406999	SAEC	small airway:	n/a
9	chr16:30406949-30406999	PrEC	prostate:	n/a
10	chr16:30407049-30407099	GM12891	blood:	n/a
11	chr16:30407049-30407099	AG10803	skin:	n/a
12	chr16:30406533-30406583	HCF	heart:	n/a
13	chr16:30407049-30407099	H1-hESC	embryonic stem cell:	embryo
14	chr16:30406533-30406583	ECC-1	luminal epithelium:	n/a
15	chr16:30407289-30407339	BE2_C	brain:	n/a
16	chr16:30407289-30407339	HAEpiC	amniotic membrane:	n/a
17	chr16:30406910-30406960	AG04449	skin:	fetal
18	chr16:30406318-30406368	HEK293	kidney:	embryo
19	chr16:30406910-30406960	GM12891	blood:	n/a
20	chr16:30407289-30407339	ovcar-3	ovarian:	n/a
21	chr16:30406176-30406226	HEEpiC	esophagus:	n/a
22	chr16:30406122-30406172	HMEC	breast:	n/a
23	chr16:30407213-30407263	HAEpiC	amniotic membrane:	n/a
24	chr16:30407213-30407263	Caco-2	colon:	n/a
25	chr16:30407049-30407099	K562	blood:	n/a
26	chr16:30407289-30407339	RPTEC	kidney:	n/a
27	chr16:30406910-30406960	HMEC	breast:	n/a
28	chr16:30406910-30406960	HRE	kidney:	n/a
29	chr16:30406176-30406226	HCT-116	colon:	n/a
30	chr16:30406910-30406960	SKMC	muscle:	n/a
31	chr16:30407103-30407153	HRCEpiC	kidney:	n/a
32	chr16:30406318-30406368	HCT-116	colon:	n/a
33	chr16:30407049-30407099	NT2-D1	testis:	n/a
34	chr16:30406533-30406583	T-47D	breast:	n/a
35	chr16:30407213-30407263	GM12878	blood:	n/a
36	chr16:30407103-30407153	SK-N-SH	brain:	n/a
37	chr16:30406122-30406172	HPAEpiC	pulmonary alveolar:	n/a
38	chr16:30406949-30406999	NHDF-neo	bronchial:	n/a
39	chr16:30407049-30407099	SK-N-SH	brain:	n/a
40	chr16:30407213-30407263	SK-N-MC	brain:	n/a
41	chr16:30407103-30407153	HRPEpiC	eye:	n/a
42	chr16:30407289-30407339	NT2-D1	testis:	n/a
43	chr16:30406533-30406583	HepG2	liver:	n/a
44	chr16:30406910-30406960	Jurkat	blood:	n/a
45	chr16:30406949-30406999	HCPEpiC	choroid plexus:	n/a
46	chr16:30406949-30406999	RPTEC	kidney:	n/a
47	chr16:30407289-30407339	ECC-1	luminal epithelium:	n/a
48	chr16:30406318-30406368	ovcar-3	ovarian:	n/a
49	chr16:30407213-30407263	AG09309	skin:	n/a
50	chr16:30406122-30406172	GM19239	blood:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30405261..30407569-chr16:30455597..30457105,2	MCF-7	breast:
2	chr16:30380765..30382933-chr16:30403703..30406768,3	K562	blood:
3	chr16:30407687..30410209-chr16:30656586..30658459,2	MCF-7	breast:
4	chr16:30384243..30394929-chr16:30405602..30409736,14	K562	blood:
5	chr16:30405344..30408453-chr16:30439632..30442076,3	MCF-7	breast:
6	chr16:30393486..30397071-chr16:30402673..30407150,6	MCF-7	breast:
7	chr16:30406017..30408531-chr16:30454989..30457376,2	MCF-7	breast:
8	chr16:30364578..30368660-chr16:30404559..30407754,8	MCF-7	breast:
9	chr16:30368801..30385970-chr16:30403825..30413311,30	MCF-7	breast:
10	chr16:30405726..30407812-chr16:30662378..30664163,2	K562	blood:
11	chr1:91966304..91966898-chr16:30406443..30407227,2	Hela-S3	cervix:
12	chr16:30379558..30384763-chr16:30404117..30407449,5	MCF-7	breast:
13	chr16:30407328..30409721-chr16:30430312..30432675,2	MCF-7	breast:
14	chr16:30077266..30078952-chr16:30405580..30407147,2	MCF-7	breast:
15	chr16:30374634..30377122-chr16:30405649..30407903,2	K562	blood:
16	chr16:30386182..30395144-chr16:30402818..30414477,44	MCF-7	breast:
17	chr16:30366042..30367681-chr16:30406512..30408947,2	MCF-7	breast:
18	chr16:30404931..30406633-chr16:30670446..30672250,2	MCF-7	breast:
19	chr16:30405548..30408419-chr16:30620470..30622922,2	MCF-7	breast:
20	chr16:30380806..30383330-chr16:30405774..30407377,2	K562	blood:
21	chr16:30378819..30383918-chr16:30407597..30413128,8	MCF-7	breast:
22	chr16:30387676..30396507-chr16:30404234..30411930,28	K562	blood:
23	chr16:30405223..30408007-chr16:30567849..30569998,3	MCF-7	breast:
24	chr16:30385968..30392864-chr16:30403786..30414800,30	MCF-7	breast:
25	chr16:30345604..30348863-chr16:30403977..30407853,5	MCF-7	breast:
26	chr16:30406965..30407478-chr16:30662235..30662825,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBC1D10B-1	chr16:30405867-30406224	NONHSAT141745
2	lnc-TBC1D10B-1	chr16:30406989-30407312	NONHSAT141744

No data

Variant related genes	Relation type
SEPT1	TF binding region
ZNF48	TF binding region
SEPT1	CpG island
ZNF48	CpG island
ENSG00000270466	chromatin interactions
ENSG00000156853	chromatin interactions
ENSG00000097046	chromatin interactions
ENSG00000156858	chromatin interactions
ENSG00000199787	chromatin interactions
ENSG00000183604	chromatin interactions
ENSG00000169221	chromatin interactions
ENSG00000156860	chromatin interactions
ENSG00000180096	chromatin interactions
ENSG00000180209	chromatin interactions
ENSG00000260869	chromatin interactions
ENSG00000179918	chromatin interactions
ENSG00000169951	chromatin interactions
ENSG00000169217	chromatin interactions
ENSG00000260219	chromatin interactions
ENSG00000180035	chromatin interactions
ENSG00000179958	chromatin interactions
ENSG00000149925	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192403788	chr16:30405482-30405483	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs570636373	chr16:30405488-30405489	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs560864704	chr16:30405490-30405491	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs538190082	chr16:30405500-30405501	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs148052917	chr16:30405525-30405526	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs574536723	chr16:30405601-30405602	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs535273337	chr16:30405650-30405651	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs553822810	chr16:30405663-30405664	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs140831337	chr16:30405697-30405698	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs578124427	chr16:30405698-30405699	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs545770261	chr16:30405713-30405714	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs4788412	chr16:30405726-30405727	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs184994013	chr16:30405743-30405744	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs544053743	chr16:30405773-30405774	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs562245345	chr16:30405792-30405793	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs150129456	chr16:30405795-30405796	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs548024413	chr16:30405819-30405820	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs77871165	chr16:30405895-30405896	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
19	rs7500104	chr16:30405917-30405918	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
20	rs77927272	chr16:30405925-30405926	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
21	rs540155443	chr16:30405976-30405977	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
22	rs551884876	chr16:30405998-30405999	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
23	rs570470774	chr16:30406004-30406005	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
24	rs138846845	chr16:30406006-30406007	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
25	rs9924949	chr16:30406141-30406142	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
26	rs143087807	chr16:30406163-30406164	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
27	rs28588108	chr16:30406168-30406169	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
28	rs553585358	chr16:30406221-30406222	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
29	rs565831792	chr16:30406241-30406242	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
30	rs539962209	chr16:30406260-30406261	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs557980115	chr16:30406307-30406308	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs529163748	chr16:30406333-30406334	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs576338834	chr16:30406397-30406398	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs543472309	chr16:30406399-30406400	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
35	rs80225586	chr16:30406410-30406411	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs111536084	chr16:30406430-30406431	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs574418227	chr16:30406449-30406450	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs371567286	chr16:30406472-30406473	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs541614500	chr16:30406475-30406476	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
40	rs560036716	chr16:30406479-30406480	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
41	rs73532601	chr16:30406588-30406589	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
42	rs113143225	chr16:30406643-30406644	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs138311011	chr16:30406667-30406668	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs564032021	chr16:30406680-30406681	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs531309123	chr16:30406809-30406810	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs143806405	chr16:30406821-30406822	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs567999142	chr16:30406875-30406876	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs529195821	chr16:30406893-30406894	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs547179538	chr16:30406957-30406958	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs111302117	chr16:30407045-30407046	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:578 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30390800-30405600	Weak transcription	Right Atrium	heart
2	chr16:30403800-30405600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:30404800-30405600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:30405000-30405600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:30405000-30405600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:30405000-30405600	Enhancers	Fetal Muscle Trunk	muscle
7	chr16:30405000-30405600	Enhancers	Fetal Stomach	stomach
8	chr16:30405000-30405600	Flanking Active TSS	HepG2	liver
9	chr16:30405000-30405600	Enhancers	NHDF-Ad	bronchial
10	chr16:30405000-30405600	Enhancers	NHLF	lung
11	chr16:30405000-30405800	Enhancers	Fetal Heart	heart
12	chr16:30405000-30407400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:30405000-30407600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:30405200-30405600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr16:30405200-30405600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr16:30405200-30405600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr16:30405200-30405600	Active TSS	Fetal Lung	lung
18	chr16:30405200-30405600	Enhancers	HUVEC	blood vessel
19	chr16:30405200-30406000	Flanking Active TSS	Fetal Brain Female	brain
20	chr16:30405400-30405600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:30405400-30405600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:30405400-30405600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr16:30405400-30405600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:30405400-30405600	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr16:30405400-30405600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr16:30405400-30405600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr16:30405400-30405600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:30405400-30405600	Enhancers	Primary T cells from cord blood	blood
29	chr16:30405400-30405600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr16:30405400-30405600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:30405400-30405600	Enhancers	Adipose Nuclei	Adipose
32	chr16:30405400-30405600	Enhancers	Brain Angular Gyrus	brain
33	chr16:30405400-30405600	Enhancers	Brain Substantia Nigra	brain
34	chr16:30405400-30405600	Enhancers	Duodenum Mucosa	Duodenum
35	chr16:30405400-30405600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr16:30405400-30405600	Enhancers	Fetal Intestine Large	intestine
37	chr16:30405400-30405600	Enhancers	Fetal Intestine Small	intestine
38	chr16:30405400-30405600	Enhancers	Right Ventricle	heart
39	chr16:30405400-30405600	Active TSS	Stomach Smooth Muscle	stomach
40	chr16:30405400-30405600	Enhancers	Dnd41	blood
41	chr16:30405400-30405600	Active TSS	HSMMtube	muscle
42	chr16:30405400-30405600	Enhancers	K562	blood
43	chr16:30405400-30405600	Enhancers	Osteobl	bone
44	chr16:30405400-30405800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr16:30405400-30405800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr16:30405400-30405800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:30405400-30405800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr16:30405400-30405800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr16:30405400-30405800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr16:30405400-30405800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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