Variant report

Variant	esv3357023
Chromosome Location	chr5:179333371-179336219
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	BCLAF1	chr5:179334652-179335306	GM12878	blood:	n/a	chr5:179334996-179335005 chr5:179334947-179334960
2	BHLHE40	chr5:179334707-179335146	K562	blood:	n/a	n/a
3	BHLHE40	chr5:179334661-179335166	GM12878	blood:	n/a	n/a
4	CCNT2	chr5:179334676-179335175	K562	blood:	n/a	n/a
5	CCNT2	chr5:179333806-179334195	K562	blood:	n/a	n/a
6	CEBPB	chr5:179335272-179335408	HepG2	liver:	n/a	chr5:179335338-179335349
7	CEBPB	chr5:179334784-179334827	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr5:179335054-179335397	Hela-S3	cervix:	n/a	chr5:179335338-179335349
9	CEBPB	chr5:179335192-179335350	K562	blood:	n/a	chr5:179335338-179335349
10	CEBPD	chr5:179334637-179334930	HepG2	liver:	n/a	n/a
11	CHD1	chr5:179334302-179334396	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr5:179334743-179335155	GM12878	blood:	n/a	n/a
13	CHD2	chr5:179334062-179334318	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr5:179334770-179335105	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr5:179334713-179334912	GM12878	blood:	n/a	n/a
16	CHD2	chr5:179333994-179334363	GM12878	blood:	n/a	n/a
17	CREB1	chr5:179334551-179335116	K562	blood:	n/a	n/a
18	CREB1	chr5:179334566-179335297	HepG2	liver:	n/a	n/a
19	CREB1	chr5:179334672-179335193	A549	lung:	n/a	n/a
20	CTCF	chr5:179335800-179335950	HepG2	liver:	n/a	n/a
21	CTCF	chr5:179334960-179335110	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr5:179334891-179335075	LNCaP	prostate:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
23	CTCF	chr5:179335761-179335924	HepG2	liver:	n/a	n/a
24	CTCF	chr5:179335720-179335870	HEK293	kidney:	n/a	n/a
25	CTCF	chr5:179335774-179335915	NHEK	skin:	n/a	n/a
26	CTCF	chr5:179335740-179335890	AG09319	gingival:	n/a	n/a
27	CTCF	chr5:179335080-179335230	Caco-2	colon:	n/a	n/a
28	CTCF	chr5:179335780-179335930	GM06990	blood:	n/a	n/a
29	CTCF	chr5:179335780-179335930	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr5:179335180-179335330	HEK293	kidney:	n/a	n/a
31	CTCF	chr5:179335940-179336090	RPTEC	kidney:	n/a	n/a
32	CTCF	chr5:179334920-179335070	HAc	cerebellar:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
33	CTCF	chr5:179334575-179335329	SK-N-SH	brain:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
34	CTCF	chr5:179334900-179335050	GM12873	blood:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
35	CTCF	chr5:179335100-179335250	BJ	skin:	n/a	n/a
36	CTCF	chr5:179334723-179335115	MCF-7	breast:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
37	CTCF	chr5:179335760-179335910	HCT-116	colon:	n/a	n/a
38	CTCF	chr5:179334778-179334780	GM13977	blood:	n/a	n/a
39	CTCF	chr5:179334920-179335070	HCPEpiC	choroid plexus:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
40	CTCF	chr5:179335720-179335870	BE2_C	brain:	n/a	n/a
41	CTCF	chr5:179335720-179335870	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr5:179334900-179335050	GM12874	blood:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
43	CTCF	chr5:179335760-179335910	NHEK	skin:	n/a	n/a
44	CTCF	chr5:179334665-179335122	K562	blood:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
45	CTCF	chr5:179335788-179335921	GM19239	blood:	n/a	n/a
46	CTCF	chr5:179334868-179335133	T-47D	breast:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
47	CTCF	chr5:179334771-179335222	Spleen_OC	spleen:	n/a	chr5:179334949-179334962 chr5:179334947-179334965 chr5:179334950-179334960 chr5:179334948-179334964 chr5:179334953-179334962 chr5:179334949-179334962
48	CTCF	chr5:179335657-179335915	HepG2	liver:	n/a	n/a
49	CTCF	chr5:179335760-179335910	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr5:179335720-179335870	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179333932-179333982	AG09319	gingival:	n/a
2	chr5:179334739-179334789	HNPCEpiC	eye:	n/a
3	chr5:179334288-179334338	IMR90	lung:	fetal
4	chr5:179333958-179334008	SK-N-SH	brain:	n/a
5	chr5:179333958-179334008	T-47D	breast:	n/a
6	chr5:179335243-179335293	GM12892	blood:	n/a
7	chr5:179334771-179334821	Jurkat	blood:	n/a
8	chr5:179335243-179335293	Jurkat	blood:	n/a
9	chr5:179334288-179334338	A549	lung:	n/a
10	chr5:179335223-179335273	HL-60	blood:	n/a
11	chr5:179333932-179333982	AG10803	skin:	n/a
12	chr5:179334771-179334821	HCT-116	colon:	n/a
13	chr5:179333958-179334008	Hela-S3	cervix:	n/a
14	chr5:179335631-179335681	HepG2	liver:	n/a
15	chr5:179335243-179335293	HRCEpiC	kidney:	n/a
16	chr5:179334771-179334821	LNCaP	prostate:	n/a
17	chr5:179335607-179335657	H1-hESC	embryonic stem cell:	embryo
18	chr5:179333932-179333982	HPAEpiC	pulmonary alveolar:	n/a
19	chr5:179335631-179335681	HEEpiC	esophagus:	n/a
20	chr5:179335631-179335681	HL-60	blood:	n/a
21	chr5:179335223-179335273	NB4	blood:	n/a
22	chr5:179335607-179335657	HRPEpiC	eye:	n/a
23	chr5:179333932-179333982	BE2_C	brain:	n/a
24	chr5:179335607-179335657	PFSK-1	brain:	n/a
25	chr5:179335243-179335293	AG10803	skin:	n/a
26	chr5:179335704-179335754	NH-A	brain:	n/a
27	chr5:179335704-179335754	HRCEpiC	kidney:	n/a
28	chr5:179335631-179335681	AG09309	skin:	n/a
29	chr5:179335223-179335273	GM12892	blood:	n/a
30	chr5:179334771-179334821	PFSK-1	brain:	n/a
31	chr5:179335704-179335754	RPTEC	kidney:	n/a
32	chr5:179335243-179335293	HRE	kidney:	n/a
33	chr5:179333958-179334008	SAEC	small airway:	n/a
34	chr5:179335607-179335657	HNPCEpiC	eye:	n/a
35	chr5:179335243-179335293	GM19239	blood:	n/a
36	chr5:179335704-179335754	HEEpiC	esophagus:	n/a
37	chr5:179333958-179334008	MCF-7	breast:	n/a
38	chr5:179334739-179334789	SKMC	muscle:	n/a
39	chr5:179334771-179334821	PrEC	prostate:	n/a
40	chr5:179333958-179334008	ECC-1	luminal epithelium:	n/a
41	chr5:179334771-179334821	HEEpiC	esophagus:	n/a
42	chr5:179333958-179334008	NB4	blood:	n/a
43	chr5:179335243-179335293	HRPEpiC	eye:	n/a
44	chr5:179333932-179333982	K562	blood:	n/a
45	chr5:179334771-179334821	AG04449	skin:	fetal
46	chr5:179335607-179335657	ovcar-3	ovarian:	n/a
47	chr5:179333932-179333982	SKMC	muscle:	n/a
48	chr5:179335607-179335657	HMEC	breast:	n/a
49	chr5:179335223-179335273	AG10803	skin:	n/a
50	chr5:179333932-179333982	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179330011..179331710-chr5:179335227..179337896,2	K562	blood:
2	chr5:179263833..179265352-chr5:179332066..179334694,2	K562	blood:
3	chr19:10305209..10305779-chr5:179334660..179335178,2	HCT-116	colon:
4	chr5:179284572..179287253-chr5:179332885..179335031,4	MCF-7	breast:
5	chr5:179220191..179222591-chr5:179331659..179334767,3	MCF-7	breast:
6	chr5:179231022..179234564-chr5:179332456..179334964,4	MCF-7	breast:
7	chr5:179332164..179334090-chr5:179510604..179512176,2	MCF-7	breast:
8	chr5:179319773..179322794-chr5:179334864..179337112,3	MCF-7	breast:
9	chr5:179333483..179336002-chr5:179498536..179500364,3	K562	blood:
10	chr5:179242122..179245901-chr5:179334184..179337544,4	K562	blood:
11	chr5:179284415..179287305-chr5:179333085..179336223,5	MCF-7	breast:
12	chr5:179246876..179249284-chr5:179332914..179335716,2	MCF-7	breast:
13	chr2:191746477..191747283-chr5:179333954..179334548,2	Hela-S3	cervix:
14	chr5:179247476..179249200-chr5:179334152..179336100,2	K562	blood:
15	chr5:179293404..179294329-chr5:179334551..179335058,2	MCF-7	breast:
16	chr5:179232711..179234875-chr5:179332233..179334161,2	K562	blood:
17	chr5:179332761..179336643-chr5:179497180..179500753,5	MCF-7	breast:
18	chr5:179333483..179336281-chr5:179498634..179500565,2	K562	blood:
19	chr5:179297068..179300274-chr5:179333410..179335141,3	MCF-7	breast:
20	chr5:179325019..179329362-chr5:179330614..179334824,8	K562	blood:
21	chr5:179323028..179325776-chr5:179336197..179338772,2	K562	blood:
22	chr5:179227831..179231343-chr5:179333679..179336075,3	MCF-7	breast:
23	chr5:179312827..179319105-chr5:179330918..179335028,6	MCF-7	breast:
24	chr5:179297185..179299708-chr5:179331980..179334560,2	K562	blood:
25	chr5:179334236..179335161-chr6:31587804..31588782,2	Hela-S3	cervix:
26	chr5:179320962..179322826-chr5:179332050..179333678,2	K562	blood:
27	chr5:179263833..179265410-chr5:179333194..179335753,2	K562	blood:
28	chr5:179126146..179127712-chr5:179333460..179335651,2	MCF-7	breast:
29	chr5:179247957..179250042-chr5:179330844..179333661,2	K562	blood:
30	chr5:179159153..179161624-chr5:179334257..179336629,3	MCF-7	breast:
31	chr5:179049837..179051764-chr5:179334057..179336513,2	MCF-7	breast:
32	chr5:179247476..179250281-chr5:179333231..179336105,3	K562	blood:
33	chr5:179231951..179234998-chr5:179332268..179335922,5	MCF-7	breast:

Variant related genes	Relation type
TBC1D9B	TF binding region
TBC1D9B	CpG island
ENSG00000161013	chromatin interactions
ENSG00000161021	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000213316	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000197226	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000161010	chromatin interactions
ENSG00000245317	chromatin interactions
ENSG00000130816	chromatin interactions
ENSG00000204469	chromatin interactions
ENSG00000113269	chromatin interactions
ENSG00000235852	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547087329	chr5:179333399-179333400	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs565281666	chr5:179333422-179333423	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs537664241	chr5:179333459-179333460	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs573344507	chr5:179333488-179333489	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs532592577	chr5:179333495-179333496	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs550696157	chr5:179333500-179333501	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs548155597	chr5:179333551-179333552	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs569162493	chr5:179333592-179333593	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs371495874	chr5:179333622-179333623	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs536141282	chr5:179333637-179333638	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs548383440	chr5:179333688-179333689	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs182086	chr5:179333702-179333703	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs375803893	chr5:179333728-179333729	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs533646705	chr5:179333729-179333730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs116317761	chr5:179333737-179333738	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs155796	chr5:179333740-179333741	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs34506518	chr5:179333745-179333746	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs269476	chr5:179333820-179333821	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs555861875	chr5:179333826-179333827	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs181082066	chr5:179333835-179333836	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs570714099	chr5:179333853-179333854	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs542916471	chr5:179333861-179333862	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs561487947	chr5:179333871-179333872	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs533121100	chr5:179333887-179333888	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs573427783	chr5:179333888-179333889	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs116649469	chr5:179333903-179333904	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs185388017	chr5:179333913-179333914	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs532630776	chr5:179333921-179333922	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs535289191	chr5:179333952-179333953	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs550989097	chr5:179333989-179333990	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs189027244	chr5:179333996-179333997	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs530025653	chr5:179334000-179334001	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs548141500	chr5:179334019-179334020	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs373403749	chr5:179334024-179334025	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs533775817	chr5:179334026-179334027	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs155797	chr5:179334052-179334053	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs570239644	chr5:179334053-179334054	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs537526485	chr5:179334061-179334062	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs369919693	chr5:179334078-179334079	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs567933268	chr5:179334081-179334082	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs180827179	chr5:179334118-179334119	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs555261073	chr5:179334144-179334145	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs187318750	chr5:179334167-179334168	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs371434374	chr5:179334306-179334307	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs559861478	chr5:179334337-179334338	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs559181991	chr5:179334434-179334435	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs577284767	chr5:179334563-179334564	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs535201591	chr5:179334619-179334620	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs371855129	chr5:179334631-179334632	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs370440182	chr5:179334735-179334736	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:617 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179287200-179333600	Weak transcription	Right Atrium	heart
2	chr5:179295200-179334000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:179311400-179333800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:179312000-179333400	Weak transcription	Fetal Brain Male	brain
5	chr5:179312800-179333400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:179313600-179333400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:179320400-179333600	Weak transcription	Stomach Mucosa	stomach
8	chr5:179320800-179333400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:179321000-179333600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:179325000-179333400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:179326400-179333800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:179326600-179333400	Weak transcription	Fetal Heart	heart
13	chr5:179326800-179333400	Weak transcription	NH-A	brain
14	chr5:179326800-179333400	Weak transcription	NHDF-Ad	bronchial
15	chr5:179327000-179333600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:179328200-179333600	Weak transcription	Psoas Muscle	Psoas
17	chr5:179329600-179333600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:179329800-179333600	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr5:179330800-179333400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:179331000-179333400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:179331000-179333600	Weak transcription	Fetal Kidney	kidney
22	chr5:179331200-179333400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:179331200-179333400	Weak transcription	HSMMtube	muscle
24	chr5:179331400-179333400	Weak transcription	Primary T cells from cord blood	blood
25	chr5:179331600-179333400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:179331800-179333400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:179331800-179333400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr5:179332000-179333400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:179332000-179333400	Weak transcription	Spleen	Spleen
30	chr5:179332000-179333400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr5:179332000-179333600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:179332000-179333600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:179332000-179333600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:179332000-179333600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr5:179332000-179333600	Weak transcription	Brain Angular Gyrus	brain
36	chr5:179332000-179333600	Weak transcription	Left Ventricle	heart
37	chr5:179332000-179333600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:179332000-179333600	Genic enhancers	K562	blood
39	chr5:179332000-179333800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:179332000-179334000	Weak transcription	Aorta	Aorta
41	chr5:179332200-179333400	Weak transcription	Brain Germinal Matrix	brain
42	chr5:179332200-179333400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr5:179332200-179333400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr5:179332200-179333400	Weak transcription	HSMM	muscle
45	chr5:179332200-179333400	Weak transcription	NHLF	lung
46	chr5:179332200-179333400	Weak transcription	Osteobl	bone
47	chr5:179332200-179333600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:179332200-179333600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr5:179332200-179333600	Weak transcription	Fetal Lung	lung
50	chr5:179332400-179333400	Weak transcription	Primary B cells from cord blood	blood

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