Variant report

Variant	esv3524934
Chromosome Location	chr16:71756501-71759099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:489)
CpG islands
(count:122)
Chromatin interactive
region (count:20)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:71756734-71756807	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:71757994-71758139	HepG2	liver:	n/a	n/a
3	ATF2	chr16:71756735-71757220	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr16:71756728-71758174	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr16:71756646-71757162	A549	lung:	n/a	n/a
6	BCL3	chr16:71756796-71757323	A549	lung:	n/a	chr16:71757198-71757211 chr16:71757178-71757187 chr16:71757271-71757284
7	BHLHE40	chr16:71757499-71758169	GM12878	blood:	n/a	chr16:71757976-71757992 chr16:71757932-71757948 chr16:71757574-71757590
8	BHLHE40	chr16:71757606-71758105	K562	blood:	n/a	chr16:71757976-71757992 chr16:71757932-71757948
9	BHLHE40	chr16:71757511-71758328	HepG2	liver:	n/a	chr16:71757976-71757992 chr16:71757932-71757948 chr16:71757574-71757590
10	BRCA1	chr16:71756908-71757108	HepG2	liver:	n/a	n/a
11	BRCA1	chr16:71757075-71757380	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr16:71757646-71757697	GM12878	blood:	n/a	n/a
13	CBX3	chr16:71757885-71758239	K562	blood:	n/a	n/a
14	CCNT2	chr16:71756984-71758163	K562	blood:	n/a	n/a
15	CEBPB	chr16:71756873-71757079	HepG2	liver:	n/a	chr16:71756939-71756950
16	CEBPB	chr16:71756647-71757308	A549	lung:	n/a	chr16:71756939-71756950
17	CEBPB	chr16:71756797-71757212	HepG2	liver:	n/a	chr16:71756939-71756950
18	CEBPB	chr16:71756718-71757155	ECC-1	luminal epithelium:	n/a	chr16:71756939-71756950
19	CEBPB	chr16:71756758-71757138	IMR90	lung:	n/a	chr16:71756939-71756950
20	CEBPB	chr16:71756647-71757234	MCF-7	breast:	n/a	chr16:71756939-71756950
21	CEBPB	chr16:71756695-71757122	A549	lung:	n/a	chr16:71756939-71756950
22	CEBPB	chr16:71756556-71757354	Hela-S3	cervix:	n/a	chr16:71756939-71756950
23	CEBPB	chr16:71757699-71758233	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr16:71756773-71757226	HepG2	liver:	n/a	chr16:71756939-71756950
25	CEBPB	chr16:71756673-71757269	ECC-1	luminal epithelium:	n/a	chr16:71756939-71756950
26	CEBPB	chr16:71756783-71757117	K562	blood:	n/a	chr16:71756939-71756950
27	CEBPB	chr16:71756715-71757178	A549	lung:	n/a	chr16:71756939-71756950
28	CEBPB	chr16:71756770-71757144	H1-hESC	embryonic stem cell:	n/a	chr16:71756939-71756950
29	CEBPD	chr16:71757608-71758094	HepG2	liver:	n/a	n/a
30	CEBPD	chr16:71756687-71757306	HepG2	liver:	n/a	n/a
31	CHD1	chr16:71757581-71757600	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD1	chr16:71757530-71757765	GM12878	blood:	n/a	n/a
33	CHD1	chr16:71756585-71757251	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr16:71756558-71757214	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr16:71758096-71758289	HepG2	liver:	n/a	n/a
36	CHD2	chr16:71756603-71757329	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr16:71757570-71758218	GM12878	blood:	n/a	n/a
38	CHD2	chr16:71757938-71758158	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr16:71756878-71757340	HepG2	liver:	n/a	n/a
40	CHD2	chr16:71757608-71758234	Hela-S3	cervix:	n/a	n/a
41	CREB1	chr16:71757531-71758302	K562	blood:	n/a	n/a
42	CREB1	chr16:71756835-71757565	A549	lung:	n/a	n/a
43	CREB1	chr16:71756556-71758432	HepG2	liver:	n/a	n/a
44	CREB1	chr16:71757574-71758058	A549	lung:	n/a	n/a
45	CTBP2	chr16:71756759-71757345	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTBP2	chr16:71757654-71758377	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr16:71758060-71758210	GM12864	blood:	n/a	n/a
48	CTCF	chr16:71758040-71758190	MCF-7	breast:	n/a	n/a
49	CTCF	chr16:71758160-71758310	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr16:71757600-71757750	GM12867	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:71757240-71757290	RPTEC	kidney:	n/a
2	chr16:71757240-71757290	AG04450	lung:	fetal
3	chr16:71758038-71758088	K562	blood:	n/a
4	chr16:71758038-71758088	Caco-2	colon:	n/a
5	chr16:71757240-71757290	HL-60	blood:	n/a
6	chr16:71757240-71757290	HRE	kidney:	n/a
7	chr16:71758038-71758088	AG10803	skin:	n/a
8	chr16:71757240-71757290	SK-N-MC	brain:	n/a
9	chr16:71758038-71758088	IMR90	lung:	fetal
10	chr16:71757240-71757290	HIPEpiC	eye:	n/a
11	chr16:71758038-71758088	ovcar-3	ovarian:	n/a
12	chr16:71758038-71758088	NB4	blood:	n/a
13	chr16:71757240-71757290	HUVEC	blood vessel:	n/a
14	chr16:71758038-71758088	T-47D	breast:	n/a
15	chr16:71757240-71757290	SK-N-SH	brain:	n/a
16	chr16:71758038-71758088	HEK293	kidney:	embryo
17	chr16:71757240-71757290	GM12892	blood:	n/a
18	chr16:71758038-71758088	GM12892	blood:	n/a
19	chr16:71757240-71757290	NH-A	brain:	n/a
20	chr16:71757240-71757290	U87	brain:	n/a
21	chr16:71758038-71758088	AG04449	skin:	fetal
22	chr16:71757240-71757290	GM12878	blood:	n/a
23	chr16:71758038-71758088	U87	brain:	n/a
24	chr16:71757240-71757290	Hepatocyte	liver:	n/a
25	chr16:71757240-71757290	SK-N-SH_RA	brain:	n/a
26	chr16:71757240-71757290	HNPCEpiC	eye:	n/a
27	chr16:71757240-71757290	HPAEpiC	pulmonary alveolar:	n/a
28	chr16:71757240-71757290	H1-hESC	embryonic stem cell:	embryo
29	chr16:71757240-71757290	GM12891	blood:	n/a
30	chr16:71758038-71758088	AG04450	lung:	fetal
31	chr16:71758038-71758088	PFSK-1	brain:	n/a
32	chr16:71758038-71758088	HIPEpiC	eye:	n/a
33	chr16:71757240-71757290	HCM	heart:	n/a
34	chr16:71757240-71757290	HAEpiC	amniotic membrane:	n/a
35	chr16:71758038-71758088	H1-hESC	embryonic stem cell:	embryo
36	chr16:71758038-71758088	LNCaP	prostate:	n/a
37	chr16:71757240-71757290	HCPEpiC	choroid plexus:	n/a
38	chr16:71757240-71757290	ProgFib	skin:	n/a
39	chr16:71757240-71757290	AoSMC	blood vessel:	n/a
40	chr16:71758038-71758088	CMK	blood:	n/a
41	chr16:71758038-71758088	GM19239	blood:	n/a
42	chr16:71757240-71757290	HEK293	kidney:	embryo
43	chr16:71758038-71758088	MCF-7	breast:	n/a
44	chr16:71757240-71757290	LNCaP	prostate:	n/a
45	chr16:71758038-71758088	RPTEC	kidney:	n/a
46	chr16:71757240-71757290	AG10803	skin:	n/a
47	chr16:71758038-71758088	SK-N-SH_RA	brain:	n/a
48	chr16:71758038-71758088	HL-60	blood:	n/a
49	chr16:71757240-71757290	AG09309	skin:	n/a
50	chr16:71758038-71758088	PANC-1	pancreas:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71758014..71760790-chr16:71779924..71782486,2	K562	blood:
2	chr16:71748955..71755873-chr16:71756069..71760101,14	MCF-7	breast:
3	chr16:71756383..71758703-chr16:71759355..71761226,2	MCF-7	breast:
4	chr16:71756273..71758753-chr16:71927656..71930818,3	MCF-7	breast:
5	chr16:71756251..71759040-chr16:71918074..71919809,2	K562	blood:
6	chr16:71658952..71666464-chr16:71755738..71760832,8	MCF-7	breast:
7	chr1:11967125..11969776-chr16:71755847..71757507,2	MCF-7	breast:
8	chr1:6844657..6845258-chr16:71757161..71757923,2	Hela-S3	cervix:
9	chr16:71756009..71758513-chr16:71878989..71881221,2	K562	blood:
10	chr16:71756102..71758936-chr16:71915033..71919382,3	MCF-7	breast:
11	chr16:71697444..71699494-chr16:71756866..71759011,2	MCF-7	breast:
12	chr16:71755880..71759578-chr16:71759607..71764621,8	MCF-7	breast:
13	chr16:71756649..71759449-chr16:71879809..71882216,3	MCF-7	breast:
14	chr16:71756712..71759795-chr16:71768156..71771579,4	MCF-7	breast:
15	chr16:71755537..71758357-chr16:71878950..71881033,2	K562	blood:
16	chr16:71756413..71761113-chr16:71764688..71769079,7	K562	blood:
17	chr16:71696881..71698945-chr16:71757287..71759170,2	MCF-7	breast:
18	chr16:71755635..71758602-chr16:71927230..71929480,2	MCF-7	breast:
19	chr16:71756422..71758416-chr16:71842004..71843953,2	MCF-7	breast:
20	chr16:71757196..71759664-chr16:71766555..71771218,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARVELD3-2	chr16:71757083-71757344	ENSG00000261513.1
2	lnc-MARVELD3-2	chr16:71757619-71758133	ENSG00000261513.1

No data

Variant related genes	Relation type
ENSG00000261513	TF binding region
PHLPP2	TF binding region
ENSG00000260612	TF binding region
ENSG00000261513	CpG island
PHLPP2	CpG island
ENSG00000260612	CpG island
ENSG00000182149	chromatin interactions
ENSG00000237436	chromatin interactions
ENSG00000261765	chromatin interactions
ENSG00000166747	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000260612	chromatin interactions
ENSG00000224470	chromatin interactions
ENSG00000040199	chromatin interactions
ENSG00000260593	chromatin interactions
ENSG00000102984	chromatin interactions
ENSG00000140832	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546797085	chr16:71756529-71756530	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs143484712	chr16:71756557-71756558	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs537504300	chr16:71756605-71756606	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs75015501	chr16:71756616-71756617	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs551591608	chr16:71756626-71756627	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs565740586	chr16:71756649-71756650	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs569983784	chr16:71756680-71756681	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs537044593	chr16:71756698-71756699	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs76967766	chr16:71756735-71756736	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs534686209	chr16:71756739-71756740	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs567602896	chr16:71756742-71756743	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs535012390	chr16:71756780-71756781	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs35850809	chr16:71756792-71756793	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs553498876	chr16:71756820-71756821	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs9934301	chr16:71756845-71756846	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs186913063	chr16:71756909-71756910	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs368022470	chr16:71756924-71756925	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs78304444	chr16:71756941-71756942	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs575454116	chr16:71756943-71756944	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs554807719	chr16:71756947-71756948	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs560897694	chr16:71756959-71756960	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs11860518	chr16:71756961-71756962	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540547817	chr16:71756992-71756993	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs565048377	chr16:71756994-71756995	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs116338900	chr16:71757015-71757016	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs568177575	chr16:71757020-71757021	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs550796410	chr16:71757124-71757125	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
28	rs563620779	chr16:71757145-71757146	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
29	rs147174874	chr16:71757230-71757231	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
30	rs557036498	chr16:71757237-71757238	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
31	rs548942450	chr16:71757245-71757246	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
32	rs567343289	chr16:71757248-71757249	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
33	rs534947355	chr16:71757261-71757262	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
34	rs115620559	chr16:71757283-71757284	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
35	rs571955921	chr16:71757356-71757357	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs538848878	chr16:71757362-71757363	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs9934715	chr16:71757387-71757388	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs12923990	chr16:71757395-71757396	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs536376823	chr16:71757450-71757451	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs554569250	chr16:71757482-71757483	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs572883225	chr16:71757613-71757614	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs372656363	chr16:71757620-71757621	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
43	rs540471429	chr16:71757761-71757762	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
44	rs565027517	chr16:71757788-71757789	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
45	rs191759405	chr16:71757795-71757796	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
46	rs111334255	chr16:71757837-71757838	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
47	rs577107762	chr16:71757851-71757852	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
48	rs7201649	chr16:71757939-71757940	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs182677657	chr16:71757942-71757943	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
50	rs569334111	chr16:71758010-71758011	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71683800-71756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:71705000-71756800	Weak transcription	Gastric	stomach
3	chr16:71710600-71756800	Weak transcription	Lung	lung
4	chr16:71716800-71756600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr16:71725000-71756600	Weak transcription	Left Ventricle	heart
6	chr16:71733400-71756600	Weak transcription	Aorta	Aorta
7	chr16:71734000-71756600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr16:71734000-71756600	Weak transcription	Thymus	Thymus
9	chr16:71734000-71756800	Weak transcription	Pancreas	Pancrea
10	chr16:71741600-71756800	Weak transcription	Small Intestine	intestine
11	chr16:71741800-71756600	Weak transcription	Psoas Muscle	Psoas
12	chr16:71742000-71756600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:71742000-71756800	Weak transcription	Spleen	Spleen
14	chr16:71753400-71756800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:71753800-71756600	Weak transcription	Fetal Muscle Leg	muscle
16	chr16:71755600-71758000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr16:71755800-71758400	Active TSS	NHLF	lung
18	chr16:71756000-71756600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr16:71756000-71756600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:71756000-71756600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr16:71756000-71756600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr16:71756000-71756600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr16:71756000-71756600	Enhancers	Brain Hippocampus Middle	brain
24	chr16:71756000-71756600	Enhancers	Fetal Muscle Trunk	muscle
25	chr16:71756000-71756600	Enhancers	Fetal Thymus	thymus
26	chr16:71756000-71756600	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr16:71756000-71756600	Enhancers	Stomach Mucosa	stomach
28	chr16:71756000-71756600	Flanking Active TSS	HepG2	liver
29	chr16:71756000-71756800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr16:71756000-71756800	Enhancers	Esophagus	oesophagus
31	chr16:71756000-71756800	Flanking Active TSS	Hela-S3	cervix
32	chr16:71756000-71757000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:71756000-71757000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr16:71756200-71756600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr16:71756200-71756600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr16:71756200-71756600	Enhancers	Primary B cells from peripheral blood	blood
37	chr16:71756200-71756600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr16:71756200-71756600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr16:71756200-71756600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:71756200-71756600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:71756200-71756600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:71756200-71756600	Enhancers	Colon Smooth Muscle	Colon
43	chr16:71756200-71756600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr16:71756200-71756600	Enhancers	Fetal Stomach	stomach
45	chr16:71756200-71756600	Weak transcription	Ovary	ovary
46	chr16:71756200-71756600	Flanking Active TSS	HMEC	breast
47	chr16:71756200-71756800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr16:71756200-71756800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr16:71756200-71756800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr16:71756200-71756800	Flanking Active TSS	GM12878-XiMat	blood

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