Variant report

Variant	esv3375400
Chromosome Location	chr15:78110347-78113670
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	BACH1	chr15:78112581-78112794	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr15:78111596-78111934	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr15:78113211-78113483	K562	blood:	n/a	chr15:78113370-78113391 chr15:78113374-78113387
4	BHLHE40	chr15:78112561-78112947	K562	blood:	n/a	n/a
5	CCNT2	chr15:78112531-78112910	K562	blood:	n/a	n/a
6	CHD1	chr15:78111718-78111742	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr15:78112768-78112882	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr15:78112731-78112878	Hela-S3	cervix:	n/a	n/a
9	CREB1	chr15:78112210-78112963	A549	lung:	n/a	n/a
10	CTBP2	chr15:78111581-78112011	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr15:78112660-78112810	BE2_C	brain:	n/a	chr15:78112771-78112781
12	CTCF	chr15:78112720-78112870	HRE	kidney:	n/a	chr15:78112771-78112781
13	CTCF	chr15:78112700-78112850	AG04449	skin:	n/a	chr15:78112771-78112781
14	CTCF	chr15:78112720-78112870	HFF-Myc	foreskin:	n/a	chr15:78112771-78112781
15	CTCF	chr15:78112720-78112870	Caco-2	colon:	n/a	chr15:78112771-78112781
16	CTCF	chr15:78113596-78114250	HCT-116	colon:	n/a	chr15:78113982-78114000
17	CTCF	chr15:78112720-78112870	WERI-Rb-1	eye:	n/a	chr15:78112771-78112781
18	CTCF	chr15:78113140-78113290	HEK293	kidney:	n/a	n/a
19	CTCF	chr15:78112720-78112870	HCPEpiC	choroid plexus:	n/a	chr15:78112771-78112781
20	CTCF	chr15:78112640-78112790	HRPEpiC	eye:	n/a	chr15:78112771-78112781
21	CTCF	chr15:78112678-78112895	GM12891	blood:	n/a	chr15:78112771-78112781
22	CTCF	chr15:78112720-78112870	SK-N-SH_RA	brain:	n/a	chr15:78112771-78112781
23	CTCF	chr15:78112700-78112850	HRE	kidney:	n/a	chr15:78112771-78112781
24	CTCF	chr15:78112740-78112890	HRPEpiC	eye:	n/a	chr15:78112771-78112781
25	CTCF	chr15:78112630-78112900	A549	lung:	n/a	chr15:78112771-78112781
26	CTCF	chr15:78112713-78112886	GM10266	blood:	n/a	chr15:78112771-78112781
27	CTCF	chr15:78112640-78112790	HCT-116	colon:	n/a	chr15:78112771-78112781
28	CTCF	chr15:78112362-78114448	A549	lung:	n/a	chr15:78112615-78112628 chr15:78112615-78112624 chr15:78112771-78112781 chr15:78113982-78114000
29	CTCF	chr15:78112509-78113097	MCF-7	breast:	n/a	chr15:78112615-78112628 chr15:78112615-78112624 chr15:78112771-78112781
30	CTCF	chr15:78112683-78112896	Fibrobl	skin:	n/a	chr15:78112771-78112781
31	CTCF	chr15:78112699-78112843	GM10248	blood:	n/a	chr15:78112771-78112781
32	CTCF	chr15:78112651-78112918	H1-hESC	embryonic stem cell:	n/a	chr15:78112771-78112781
33	CTCF	chr15:78112695-78112868	HepG2	liver:	n/a	chr15:78112771-78112781
34	CTCF	chr15:78112720-78112870	HAc	cerebellar:	n/a	chr15:78112771-78112781
35	CTCF	chr15:78112627-78112951	MCF-7	breast:	n/a	chr15:78112771-78112781
36	CTCF	chr15:78112512-78112875	H1-hESC	embryonic stem cell:	n/a	chr15:78112615-78112628 chr15:78112615-78112624 chr15:78112771-78112781
37	CTCF	chr15:78112667-78112876	GM19240	blood:	n/a	chr15:78112771-78112781
38	CTCF	chr15:78112700-78112850	SAEC	small airway:	n/a	chr15:78112771-78112781
39	CTCF	chr15:78112696-78112867	Hela-S3	cervix:	n/a	chr15:78112771-78112781
40	CTCF	chr15:78112740-78112890	GM12874	blood:	n/a	chr15:78112771-78112781
41	CTCF	chr15:78112700-78112850	HCFaa	heart:	n/a	chr15:78112771-78112781
42	CTCF	chr15:78112740-78112890	MCF-7	breast:	n/a	chr15:78112771-78112781
43	CTCF	chr15:78112680-78112830	HUVEC	blood vessel:	n/a	chr15:78112771-78112781
44	CTCF	chr15:78112680-78112830	HBMEC	blood vessel:	n/a	chr15:78112771-78112781
45	CTCF	chr15:78112720-78112870	HepG2	liver:	n/a	chr15:78112771-78112781
46	CTCF	chr15:78112680-78112930	GM12869	blood:	n/a	chr15:78112771-78112781
47	CTCF	chr15:78112660-78112810	GM12873	blood:	n/a	chr15:78112771-78112781
48	CTCF	chr15:78112595-78112843	A549	lung:	n/a	chr15:78112615-78112628 chr15:78112615-78112624 chr15:78112771-78112781
49	CTCF	chr15:78112720-78112870	HA-sp	spinal cord:	n/a	chr15:78112771-78112781
50	CTCF	chr15:78112693-78112845	LNCaP	prostate:	n/a	chr15:78112771-78112781

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:78113667-78113717	HIPEpiC	eye:	n/a
2	chr15:78113667-78113717	HIPEpiC	eye:	n/a
3	chr15:78112818-78112868	Hela-S3	cervix:	n/a
4	chr15:78113667-78113717	A549	lung:	n/a
5	chr15:78111830-78111880	AG04450	lung:	fetal
6	chr15:78112818-78112868	LNCaP	prostate:	n/a
7	chr15:78113237-78113287	U87	brain:	n/a
8	chr15:78112026-78112076	AG04449	skin:	fetal
9	chr15:78112818-78112868	AoSMC	blood vessel:	n/a
10	chr15:78113667-78113717	GM12878	blood:	n/a
11	chr15:78113237-78113287	PANC-1	pancreas:	n/a
12	chr15:78113237-78113287	NT2-D1	testis:	n/a
13	chr15:78113667-78113717	GM12892	blood:	n/a
14	chr15:78111196-78111246	PrEC	prostate:	n/a
15	chr15:78113667-78113717	ovcar-3	ovarian:	n/a
16	chr15:78110857-78110907	PANC-1	pancreas:	n/a
17	chr15:78110903-78110953	NT2-D1	testis:	n/a
18	chr15:78112026-78112076	T-47D	breast:	n/a
19	chr15:78112818-78112868	MCF-7	breast:	n/a
20	chr15:78113667-78113717	GM12891	blood:	n/a
21	chr15:78112026-78112076	HCM	heart:	n/a
22	chr15:78110857-78110907	HAEpiC	amniotic membrane:	n/a
23	chr15:78113667-78113717	ProgFib	skin:	n/a
24	chr15:78110857-78110907	Hela-S3	cervix:	n/a
25	chr15:78111196-78111246	GM12891	blood:	n/a
26	chr15:78110857-78110907	NT2-D1	testis:	n/a
27	chr15:78113667-78113717	NB4	blood:	n/a
28	chr15:78113667-78113717	AG09319	gingival:	n/a
29	chr15:78110857-78110907	RPTEC	kidney:	n/a
30	chr15:78111830-78111880	GM12878	blood:	n/a
31	chr15:78112847-78112897	Hepatocyte	liver:	n/a
32	chr15:78112847-78112897	HEEpiC	esophagus:	n/a
33	chr15:78111830-78111880	GM06990	blood:	n/a
34	chr15:78112026-78112076	AG09319	gingival:	n/a
35	chr15:78110857-78110907	HL-60	blood:	n/a
36	chr15:78113667-78113717	GM06990	blood:	n/a
37	chr15:78111830-78111880	HPAEpiC	pulmonary alveolar:	n/a
38	chr15:78113237-78113287	SK-N-SH_RA	brain:	n/a
39	chr15:78111830-78111880	H1-hESC	embryonic stem cell:	embryo
40	chr15:78111390-78111440	GM19239	blood:	n/a
41	chr15:78112818-78112868	T-47D	breast:	n/a
42	chr15:78112026-78112076	SK-N-SH_RA	brain:	n/a
43	chr15:78112847-78112897	GM12892	blood:	n/a
44	chr15:78111830-78111880	Hela-S3	cervix:	n/a
45	chr15:78112818-78112868	SK-N-SH_RA	brain:	n/a
46	chr15:78110903-78110953	AG04450	lung:	fetal
47	chr15:78111196-78111246	LNCaP	prostate:	n/a
48	chr15:78113667-78113717	H1-hESC	embryonic stem cell:	embryo
49	chr15:78112847-78112897	NT2-D1	testis:	n/a
50	chr15:78111196-78111246	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:78093726..78095482-chr15:78109302..78111368,2	K562	blood:
2	chr15:77925072..77927787-chr15:78111223..78115888,59	MCF-7	breast:
3	chr15:77925397..77928069-chr15:78112259..78116246,3	K562	blood:
4	chr15:77925397..77927315-chr15:78112259..78115116,2	K562	blood:
5	chr15:78109668..78112280-chr15:78112604..78115106,3	MCF-7	breast:
6	chr15:78109668..78112280-chr15:78112604..78115106,3	MCF-7	breast:
7	chr15:77925249..77927257-chr15:78113205..78115049,24	MCF-7	breast:
8	chr15:77951738..77952728-chr15:78113529..78114461,5	K562	blood:
9	chr15:77923251..77928296-chr15:78111448..78115771,8	MCF-7	breast:
10	chr15:77951840..77952665-chr15:78112887..78114250,4	MCF-7	breast:
11	chr15:77951785..77952749-chr15:78113535..78114168,4	MCF-7	breast:
12	chr15:77925435..77927439-chr15:78112259..78115090,22	K562	blood:
13	chr15:77925299..77927652-chr15:78112444..78114100,3	MCF-7	breast:
14	chr15:77950482..77951067-chr15:78113646..78114389,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBC1D2B-7	chr15:78113121-78113196	NONHSAT047459
2	lnc-TBC1D2B-7	chr15:78112376-78112566	NONHSAT047460
3	lnc-TBC1D2B-7	chr15:78111613-78111870	NONHSAT047458

Variant related genes	Relation type
LINGO1	TF binding region
LINGO1	CpG island
ENSG00000169783	chromatin interactions
ENSG00000259281	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141201155	chr15:78110466-78110467	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529406613	chr15:78110506-78110507	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550863805	chr15:78110586-78110587	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562812907	chr15:78110595-78110596	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533171790	chr15:78110619-78110620	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551397538	chr15:78110622-78110623	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs62007854	chr15:78110748-78110749	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566836844	chr15:78110761-78110762	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376449595	chr15:78110773-78110774	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs527830508	chr15:78110776-78110777	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549450161	chr15:78110783-78110784	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs150772004	chr15:78110792-78110793	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78281737	chr15:78110832-78110833	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556522160	chr15:78110845-78110846	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139123602	chr15:78110892-78110893	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538911312	chr15:78110946-78110947	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376166106	chr15:78110959-78110960	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553531029	chr15:78110981-78110982	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs73457784	chr15:78111000-78111001	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542366280	chr15:78111027-78111028	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554601760	chr15:78111034-78111035	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573916797	chr15:78111042-78111043	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201879176	chr15:78111048-78111049	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544364701	chr15:78111095-78111096	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147212157	chr15:78111097-78111098	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559663613	chr15:78111121-78111122	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs4243054	chr15:78111156-78111157	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs372545549	chr15:78111163-78111164	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs4243055	chr15:78111216-78111217	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs527646951	chr15:78111274-78111275	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs145382349	chr15:78111295-78111296	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs180908784	chr15:78111359-78111360	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs35981882	chr15:78111402-78111403	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs372088592	chr15:78111519-78111520	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs12911998	chr15:78111563-78111564	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531822614	chr15:78111598-78111599	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs550026719	chr15:78111630-78111631	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs571460945	chr15:78111643-78111644	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs185470896	chr15:78111669-78111670	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs372187360	chr15:78111723-78111724	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs553992491	chr15:78111743-78111744	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs561620983	chr15:78111787-78111788	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs189759565	chr15:78111797-78111798	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs565542642	chr15:78111824-78111825	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs536214865	chr15:78111874-78111875	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs554381935	chr15:78111882-78111883	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs143130993	chr15:78111915-78111916	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs113747076	chr15:78111924-78111925	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs575767569	chr15:78111929-78111930	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs7497690	chr15:78111981-78111982	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78101600-78110400	Weak transcription	Brain Angular Gyrus	brain
2	chr15:78107400-78111600	Weak transcription	Gastric	stomach
3	chr15:78108800-78110600	Bivalent Enhancer	Fetal Brain Male	brain
4	chr15:78109000-78110600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:78109000-78110800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:78109200-78110600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:78109200-78110600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr15:78109400-78110400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr15:78109400-78110400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:78109400-78110600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
11	chr15:78109400-78110800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr15:78109600-78110600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
13	chr15:78109600-78110600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:78109600-78110800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:78109600-78110800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr15:78109800-78110400	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr15:78109800-78111800	Bivalent Enhancer	Spleen	Spleen
18	chr15:78110000-78110800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr15:78110000-78110800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:78110200-78110400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr15:78110200-78110400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:78110200-78111000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:78110400-78110600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
24	chr15:78110400-78110600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:78110400-78110600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
26	chr15:78110400-78110600	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr15:78110400-78110600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
28	chr15:78110400-78111000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
29	chr15:78110400-78111200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:78110400-78111200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
31	chr15:78110600-78110800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:78110600-78110800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:78110600-78110800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
34	chr15:78110600-78110800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
35	chr15:78110600-78110800	Bivalent Enhancer	Fetal Intestine Small	intestine
36	chr15:78110600-78110800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr15:78110600-78110800	Bivalent Enhancer	Fetal Thymus	thymus
38	chr15:78110600-78110800	Bivalent Enhancer	Right Ventricle	heart
39	chr15:78110600-78111000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr15:78110600-78111000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr15:78110600-78111000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr15:78110600-78111000	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr15:78110600-78111000	Bivalent Enhancer	Fetal Intestine Large	intestine
44	chr15:78110600-78111600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:78110600-78111600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
46	chr15:78110600-78111600	Bivalent Enhancer	Esophagus	oesophagus
47	chr15:78110600-78111600	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr15:78110600-78111800	Bivalent Enhancer	Placenta	Placenta
49	chr15:78110600-78112800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr15:78110600-78112800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain

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