Variant report

Variant	nsv907015
Chromosome Location	chr16:82203758-82284056
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:82203663-82204220	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:82203782-82203982	K562	blood:	n/a	n/a
3	ATF1	chr16:82273047-82273052	K562	blood:	n/a	n/a
4	ATF1	chr16:82264767-82264890	K562	blood:	n/a	n/a
5	ATF3	chr16:82203551-82204057	HepG2	liver:	n/a	chr16:82203971-82203980 chr16:82203909-82203918
6	ATF3	chr16:82203551-82203958	K562	blood:	n/a	chr16:82203909-82203918
7	BACH1	chr16:82204199-82204294	K562	blood:	n/a	n/a
8	BACH1	chr16:82203841-82204108	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr16:82274419-82274714	GM12878	blood:	n/a	chr16:82274586-82274597
10	BATF	chr16:82270553-82270878	GM12878	blood:	n/a	chr16:82270703-82270714
11	BATF	chr16:82270620-82270821	GM12878	blood:	n/a	chr16:82270703-82270714
12	BATF	chr16:82274450-82274681	GM12878	blood:	n/a	chr16:82274586-82274597
13	BATF	chr16:82270092-82270328	GM12878	blood:	n/a	chr16:82270232-82270243
14	BCLAF1	chr16:82203666-82204152	GM12878	blood:	n/a	n/a
15	BHLHE40	chr16:82203428-82204348	HepG2	liver:	n/a	n/a
16	BHLHE40	chr16:82203561-82204092	GM12878	blood:	n/a	n/a
17	BHLHE40	chr16:82203395-82204432	K562	blood:	n/a	n/a
18	BRCA1	chr16:82203568-82203959	HepG2	liver:	n/a	n/a
19	BRCA1	chr16:82280030-82280037	GM12878	blood:	n/a	n/a
20	BRCA1	chr16:82203499-82203957	Hela-S3	cervix:	n/a	n/a
21	CBX3	chr16:82203410-82204468	K562	blood:	n/a	n/a
22	CCNT2	chr16:82203351-82204398	K562	blood:	n/a	n/a
23	CEBPB	chr16:82203556-82204068	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr16:82216654-82216987	A549	lung:	n/a	chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216828-82216839 chr16:82216828-82216839 chr16:82216826-82216839 chr16:82216826-82216839 chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216826-82216839 chr16:82216826-82216837
25	CEBPB	chr16:82216402-82217002	HepG2	liver:	n/a	chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216828-82216839 chr16:82216828-82216839 chr16:82216826-82216839 chr16:82216826-82216839 chr16:82216433-82216444 chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216826-82216839 chr16:82216826-82216837
26	CEBPB	chr16:82203751-82203965	HepG2	liver:	n/a	n/a
27	CEBPB	chr16:82209244-82209596	HepG2	liver:	n/a	chr16:82209416-82209425 chr16:82209414-82209425 chr16:82209416-82209425 chr16:82209414-82209427 chr16:82209416-82209425 chr16:82209416-82209425
28	CEBPB	chr16:82209296-82209544	Hela-S3	cervix:	n/a	chr16:82209416-82209425 chr16:82209414-82209425 chr16:82209416-82209425 chr16:82209414-82209427 chr16:82209416-82209425 chr16:82209416-82209425
29	CEBPB	chr16:82274368-82274605	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr16:82274416-82274621	IMR90	lung:	n/a	n/a
31	CEBPB	chr16:82258563-82258743	HepG2	liver:	n/a	chr16:82258711-82258724
32	CEBPB	chr16:82216650-82217000	Hela-S3	cervix:	n/a	chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216828-82216839 chr16:82216828-82216839 chr16:82216826-82216839 chr16:82216826-82216839 chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216826-82216839 chr16:82216826-82216837
33	CEBPB	chr16:82216610-82217028	MCF-7	breast:	n/a	chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216828-82216839 chr16:82216828-82216839 chr16:82216826-82216839 chr16:82216826-82216839 chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216826-82216839 chr16:82216826-82216837
34	CEBPB	chr16:82229876-82230076	HepG2	liver:	n/a	n/a
35	CEBPB	chr16:82226258-82226773	IMR90	lung:	n/a	n/a
36	CEBPB	chr16:82217900-82218096	HepG2	liver:	n/a	chr16:82217954-82217965
37	CEBPB	chr16:82205664-82205809	IMR90	lung:	n/a	n/a
38	CEBPB	chr16:82274365-82274679	K562	blood:	n/a	n/a
39	CEBPB	chr16:82209244-82209572	IMR90	lung:	n/a	chr16:82209416-82209425 chr16:82209414-82209425 chr16:82209416-82209425 chr16:82209414-82209427 chr16:82209416-82209425 chr16:82209416-82209425
40	CEBPB	chr16:82216645-82217003	IMR90	lung:	n/a	chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216828-82216839 chr16:82216828-82216839 chr16:82216826-82216839 chr16:82216826-82216839 chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216826-82216839 chr16:82216826-82216837
41	CEBPB	chr16:82216642-82217019	K562	blood:	n/a	chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216828-82216839 chr16:82216828-82216839 chr16:82216826-82216839 chr16:82216826-82216839 chr16:82216828-82216837 chr16:82216828-82216837 chr16:82216826-82216839 chr16:82216826-82216837
42	CEBPB	chr16:82209244-82209577	K562	blood:	n/a	chr16:82209416-82209425 chr16:82209414-82209425 chr16:82209416-82209425 chr16:82209414-82209427 chr16:82209416-82209425 chr16:82209416-82209425
43	CEBPB	chr16:82234190-82234451	HepG2	liver:	n/a	chr16:82234341-82234352
44	CEBPB	chr16:82234232-82234432	K562	blood:	n/a	chr16:82234341-82234352
45	CEBPB	chr16:82214669-82214912	HepG2	liver:	n/a	chr16:82214779-82214790
46	CEBPB	chr16:82276742-82276813	HepG2	liver:	n/a	chr16:82276747-82276758
47	CEBPB	chr16:82205635-82205861	A549	lung:	n/a	n/a
48	CEBPB	chr16:82209387-82209527	H1-hESC	embryonic stem cell:	n/a	chr16:82209416-82209425 chr16:82209414-82209425 chr16:82209416-82209425 chr16:82209414-82209427 chr16:82209416-82209425 chr16:82209416-82209425
49	CEBPB	chr16:82283368-82283508	IMR90	lung:	n/a	chr16:82283461-82283474
50	CEBPB	chr16:82209253-82209562	A549	lung:	n/a	chr16:82209416-82209425 chr16:82209414-82209425 chr16:82209416-82209425 chr16:82209414-82209427 chr16:82209416-82209425 chr16:82209416-82209425

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:82203996-82204046	CMK	blood:	n/a
2	chr16:82204401-82204451	HUVEC	blood vessel:	n/a
3	chr16:82203996-82204046	CMK	blood:	n/a
4	chr16:82204401-82204451	HUVEC	blood vessel:	n/a
5	chr16:82206435-82206485	AoSMC	blood vessel:	n/a
6	chr16:82203988-82204038	AG09319	gingival:	n/a
7	chr16:82203986-82204036	BE2_C	brain:	n/a
8	chr16:82204046-82204096	HRCEpiC	kidney:	n/a
9	chr16:82203996-82204046	NHBE	bronchial:	n/a
10	chr16:82259458-82259508	HCF	heart:	n/a
11	chr16:82203986-82204036	PFSK-1	brain:	n/a
12	chr16:82203986-82204036	HAEpiC	amniotic membrane:	n/a
13	chr16:82203996-82204046	SAEC	small airway:	n/a
14	chr16:82204167-82204217	U87	brain:	n/a
15	chr16:82206435-82206485	HNPCEpiC	eye:	n/a
16	chr16:82226584-82226634	HCF	heart:	n/a
17	chr16:82206435-82206485	T-47D	breast:	n/a
18	chr16:82204172-82204222	HRCEpiC	kidney:	n/a
19	chr16:82204964-82205014	HRE	kidney:	n/a
20	chr16:82204391-82204441	AG09309	skin:	n/a
21	chr16:82203988-82204038	AG10803	skin:	n/a
22	chr16:82203988-82204038	U87	brain:	n/a
23	chr16:82203988-82204038	Hepatocyte	liver:	n/a
24	chr16:82204391-82204441	SK-N-SH_RA	brain:	n/a
25	chr16:82204167-82204217	HUVEC	blood vessel:	n/a
26	chr16:82226584-82226634	SK-N-MC	brain:	n/a
27	chr16:82203988-82204038	HEEpiC	esophagus:	n/a
28	chr16:82204964-82205014	HCM	heart:	n/a
29	chr16:82203988-82204038	AoSMC	blood vessel:	n/a
30	chr16:82204391-82204441	AG09319	gingival:	n/a
31	chr16:82204167-82204217	CMK	blood:	n/a
32	chr16:82204391-82204441	LNCaP	prostate:	n/a
33	chr16:82226584-82226634	PFSK-1	brain:	n/a
34	chr16:82204167-82204217	AG04449	skin:	fetal
35	chr16:82259458-82259508	BJ	skin:	n/a
36	chr16:82226584-82226634	IMR90	lung:	fetal
37	chr16:82204167-82204217	LNCaP	prostate:	n/a
38	chr16:82204172-82204222	HCT-116	colon:	n/a
39	chr16:82206435-82206485	Jurkat	blood:	n/a
40	chr16:82259458-82259508	SK-N-SH_RA	brain:	n/a
41	chr16:82204401-82204451	ECC-1	luminal epithelium:	n/a
42	chr16:82203988-82204038	HRCEpiC	kidney:	n/a
43	chr16:82203986-82204036	Hepatocyte	liver:	n/a
44	chr16:82204401-82204451	HCM	heart:	n/a
45	chr16:82204391-82204441	A549	lung:	n/a
46	chr16:82204172-82204222	HMEC	breast:	n/a
47	chr16:82204964-82205014	HRCEpiC	kidney:	n/a
48	chr16:82204046-82204096	HAEpiC	amniotic membrane:	n/a
49	chr16:82226584-82226634	Hepatocyte	liver:	n/a
50	chr16:82204945-82204995	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81974282..81974975-chr16:82264426..82265394,2	MCF-7	breast:
2	chr16:82064756..82065405-chr16:82263533..82264299,2	K562	blood:
3	chr16:82064722..82065718-chr16:82262987..82264266,17	MCF-7	breast:
4	chr16:82203527..82204190-chr2:26101329..26101957,2	HCT-116	colon:
5	chr16:82253625..82256227-chr16:82257466..82259269,2	MCF-7	breast:
6	chr16:82095196..82096036-chr16:82263712..82264246,2	MCF-7	breast:
7	chr16:82203331..82204106-chr20:18488610..18489467,2	Hela-S3	cervix:
8	chr16:82203934..82205687-chr16:82217060..82219188,2	MCF-7	breast:
9	chr16:82065223..82067133-chr16:82262887..82264649,2	MCF-7	breast:
10	chr16:82215365..82217939-chr16:82221171..82222891,2	MCF-7	breast:
11	chr16:82203331..82204094-chr7:94536560..94537463,2	HCT-116	colon:
12	chr16:82064738..82065659-chr16:82263372..82264240,11	MCF-7	breast:
13	chr15:81281954..81282793-chr16:82203347..82204123,2	Hela-S3	cervix:
14	chr16:81973203..81974111-chr16:82263361..82264340,4	K562	blood:
15	chr16:82202815..82205147-chr16:82258827..82261790,2	MCF-7	breast:
16	chr16:82064816..82065363-chr16:82261080..82262041,2	MCF-7	breast:
17	chr16:82253625..82256227-chr16:82257466..82259269,2	MCF-7	breast:
18	chr16:81974143..81975083-chr16:82263601..82264236,3	K562	blood:
19	chr16:82203390..82203935-chr19:13262639..13263471,2	Hela-S3	cervix:
20	chr16:82211064..82211822-chr16:82263223..82264188,4	MCF-7	breast:
21	chr16:82171180..82173441-chr16:82201395..82203780,2	MCF-7	breast:
22	chr16:82217922..82219781-chr16:82227767..82229767,2	K562	blood:
23	chr16:82202311..82204324-chr16:82256434..82257979,2	K562	blood:
24	chr16:82203572..82204072-chr6:31670450..31671114,2	Hela-S3	cervix:
25	chr16:82204064..82206323-chr16:82214672..82216826,2	K562	blood:
26	chr11:62608799..62609639-chr16:82203591..82204468,2	NB4	blood:
27	chr16:82203772..82205293-chr16:82216452..82219079,2	MCF-7	breast:
28	chr16:82255757..82258661-chr16:82260604..82263594,2	K562	blood:
29	chr16:82207842..82210813-chr16:82220344..82222897,2	MCF-7	breast:
30	chr16:82263616..82264267-chr16:82377230..82378064,2	MCF-7	breast:
31	chr16:82263588..82264475-chr17:60186661..60187255,2	MCF-7	breast:
32	chr16:82204064..82206323-chr16:82214672..82216826,2	K562	blood:
33	chr16:82049544..82050394-chr16:82263299..82263885,2	MCF-7	breast:
34	chr11:64901980..64902550-chr16:82203349..82203968,2	Hela-S3	cervix:
35	chr16:82207842..82210813-chr16:82220344..82222897,2	MCF-7	breast:
36	chr16:82227788..82230560-chr16:82233020..82235910,2	K562	blood:
37	chr16:82203368..82204098-chr18:711824..712742,2	NB4	blood:
38	chr16:82135638..82136440-chr16:82263371..82264096,2	MCF-7	breast:
39	chr16:82276132..82278631-chr16:82297407..82299640,2	MCF-7	breast:
40	chr16:81974180..81974994-chr16:82263377..82264081,3	MCF-7	breast:
41	chr16:82202012..82204954-chr16:82205071..82206681,2	MCF-7	breast:
42	chr16:82255757..82258661-chr16:82260604..82263594,2	K562	blood:
43	chr16:82203934..82205687-chr16:82217060..82219188,2	MCF-7	breast:
44	chr16:82227788..82230560-chr16:82233020..82235910,2	K562	blood:
45	chr16:82122956..82125901-chr16:82268346..82271123,2	K562	blood:
46	chr16:82203485..82205710-chr16:82205973..82207992,2	K562	blood:
47	chr16:82217922..82219781-chr16:82227767..82229767,2	K562	blood:
48	chr16:82202997..82205982-chr16:82208138..82211154,3	K562	blood:
49	chr16:82211064..82211822-chr16:82263223..82264188,4	MCF-7	breast:
50	chr16:81923911..81924649-chr16:82263311..82264070,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MPHOSPH6-5	chr16:82226110-82226395	NONHSAT143984
2	lnc-HSD17B2-1	chr16:82203901-82203952	ENSG00000261029.1
3	lnc-HSD17B2-1	chr16:82209037-82209408	ENSG00000261029.1

Variant related genes	Relation type
RN7SKP190	TF binding region
ENSG00000261029	TF binding region
MPHOSPH6	TF binding region
RN7SKP190	CpG island
ENSG00000261029	CpG island
MPHOSPH6	CpG island
ENSG00000117899	chromatin interactions
ENSG00000158528	chromatin interactions
ENSG00000135698	chromatin interactions
ENSG00000204427	chromatin interactions
ENSG00000101310	chromatin interactions
ENSG00000261029	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000162298	chromatin interactions
ENSG00000132199	chromatin interactions
ENSG00000261235	chromatin interactions
ENSG00000143970	chromatin interactions
ENSG00000160888	chromatin interactions

Extended variants
information (count: 3069 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:3069 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2303262	chr16:82203758-82203759	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2303261	chr16:82203768-82203769	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs568887770	chr16:82203772-82203773	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs2303260	chr16:82203786-82203787	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	mRNA abundance
5	rs370284195	chr16:82203791-82203792	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs375915604	chr16:82203794-82203795	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs57899428	chr16:82203797-82203798	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148602800	chr16:82203801-82203802	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs372260898	chr16:82203803-82203804	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs377090707	chr16:82203806-82203807	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs534963620	chr16:82203824-82203825	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs553223145	chr16:82203836-82203837	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs372104047	chr16:82203864-82203865	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs544522579	chr16:82203875-82203876	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs542166330	chr16:82203877-82203878	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs557175836	chr16:82203896-82203897	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs575687179	chr16:82203914-82203915	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
18	rs374910079	chr16:82203930-82203931	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
19	rs369375641	chr16:82203936-82203937	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
20	rs11647883	chr16:82203953-82203954	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs113174773	chr16:82204005-82204006	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs184006862	chr16:82204012-82204013	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs143203305	chr16:82204027-82204028	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs146872158	chr16:82204034-82204035	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs528888827	chr16:82204071-82204072	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs550548217	chr16:82204078-82204079	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs544556181	chr16:82204094-82204095	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs2967363	chr16:82204132-82204133	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs559032528	chr16:82204179-82204180	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs533031420	chr16:82204190-82204191	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs73593205	chr16:82204209-82204210	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs570732353	chr16:82204226-82204227	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs534854447	chr16:82204234-82204235	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs115221715	chr16:82204238-82204239	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs72835399	chr16:82204268-82204269	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs369009364	chr16:82204309-82204310	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535523606	chr16:82204311-82204312	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs557312752	chr16:82204327-82204328	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs575682160	chr16:82204331-82204332	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs546301883	chr16:82204379-82204380	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs558250112	chr16:82204388-82204389	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs573084490	chr16:82204401-82204402	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs540382171	chr16:82204423-82204424	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs562012950	chr16:82204453-82204454	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs116731014	chr16:82204501-82204502	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs188644303	chr16:82204510-82204511	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs145788724	chr16:82204527-82204528	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs12935646	chr16:82204550-82204551	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs386385245	chr16:82204558-82204559	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs58171235	chr16:82204571-82204572	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82202200-82204400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:82202400-82204000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:82202400-82204000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr16:82202400-82204000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr16:82202400-82204400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr16:82202400-82204400	Active TSS	HSMM	muscle
7	chr16:82202600-82204200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr16:82202600-82204200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr16:82202600-82204200	Active TSS	A549	lung
10	chr16:82202600-82204600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr16:82202600-82204600	Active TSS	HSMMtube	muscle
12	chr16:82202600-82205000	Active TSS	Fetal Brain Female	brain
13	chr16:82202800-82204000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr16:82202800-82204000	Active TSS	H1 Cell Line	embryonic stem cell
15	chr16:82202800-82204000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:82202800-82204000	Active TSS	Fetal Intestine Large	intestine
17	chr16:82202800-82204200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr16:82202800-82204600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr16:82202800-82204600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:82202800-82204600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr16:82202800-82204600	Active TSS	Psoas Muscle	Psoas
22	chr16:82203000-82204000	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr16:82203000-82204000	Active TSS	Colonic Mucosa	Colon
24	chr16:82203000-82204000	Active TSS	Fetal Thymus	thymus
25	chr16:82203000-82204000	Active TSS	Gastric	stomach
26	chr16:82203000-82204000	Active TSS	Pancreas	Pancrea
27	chr16:82203000-82204000	Active TSS	HMEC	breast
28	chr16:82203000-82204200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:82203000-82204200	Active TSS	Right Ventricle	heart
30	chr16:82203000-82204200	Active TSS	Osteobl	bone
31	chr16:82203000-82204400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:82203000-82204400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:82203000-82204400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:82203000-82204400	Active TSS	Brain Substantia Nigra	brain
35	chr16:82203000-82204400	Active TSS	NHDF-Ad	bronchial
36	chr16:82203000-82204400	Active TSS	NHEK	skin
37	chr16:82203000-82204400	Active TSS	NHLF	lung
38	chr16:82203000-82204600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr16:82203000-82204600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:82203000-82204600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr16:82203000-82204600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr16:82203000-82204600	Active TSS	Brain Angular Gyrus	brain
43	chr16:82203000-82204600	Active TSS	Brain Anterior Caudate	brain
44	chr16:82203000-82204600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr16:82203000-82204600	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr16:82203200-82204000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr16:82203200-82204000	Active TSS	Primary B cells from peripheral blood	blood
48	chr16:82203200-82204000	Active TSS	Primary T cells from cord blood	blood
49	chr16:82203200-82204000	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr16:82203200-82204000	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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