Variant report

Variant	nsv525769
Chromosome Location	chr15:76632487-76661925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:440)
CpG islands
(count:1282)
Chromatin interactive
region (count:41)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr15:76637952-76638533	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr15:76634034-76634230	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr15:76633060-76633168	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr15:76639502-76639793	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr15:76635138-76635241	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr15:76632473-76632973	GM12878	blood:	n/a	n/a
7	CCNT2	chr15:76639424-76639559	K562	blood:	n/a	n/a
8	CCNT2	chr15:76632649-76632846	K562	blood:	n/a	n/a
9	CCNT2	chr15:76634873-76635129	K562	blood:	n/a	chr15:76634952-76634961
10	CEBPB	chr15:76638078-76639374	Hela-S3	cervix:	n/a	n/a
11	CHD1	chr15:76638371-76638584	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr15:76638253-76638795	HepG2	liver:	n/a	n/a
13	CHD2	chr15:76638126-76639093	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr15:76634522-76635194	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr15:76631455-76635500	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTBP2	chr15:76637866-76639885	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr15:76647587-76647695	K562	blood:	n/a	n/a
18	CTCF	chr15:76633440-76633590	HPF	lung:	n/a	n/a
19	CTCF	chr15:76633320-76633470	GM12870	blood:	n/a	n/a
20	CTCF	chr15:76638760-76638910	GM12875	blood:	n/a	chr15:76638837-76638850
21	CTCF	chr15:76633460-76633610	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr15:76633480-76633630	HMF	breast:	n/a	n/a
23	CTCF	chr15:76633420-76633570	GM12864	blood:	n/a	n/a
24	CTCF	chr15:76633460-76633610	BJ	skin:	n/a	n/a
25	CTCF	chr15:76638620-76638770	GM12871	blood:	n/a	n/a
26	CTCF	chr15:76633416-76633590	GM10266	blood:	n/a	n/a
27	CTCF	chr15:76633440-76633590	GM12865	blood:	n/a	n/a
28	CTCF	chr15:76632840-76632990	GM12871	blood:	n/a	n/a
29	CTCF	chr15:76633380-76633530	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chr15:76638840-76638990	Caco-2	colon:	n/a	n/a
31	CTCF	chr15:76638760-76638910	Hela-S3	cervix:	n/a	chr15:76638837-76638850
32	CTCF	chr15:76634560-76634710	NHEK	skin:	n/a	n/a
33	CTCF	chr15:76633400-76633550	AG04449	skin:	n/a	n/a
34	CTCF	chr15:76633440-76633590	GM12874	blood:	n/a	n/a
35	CTCF	chr15:76633500-76633650	HL-60	blood:	n/a	n/a
36	CTCF	chr15:76633460-76633610	GM12872	blood:	n/a	n/a
37	CTCF	chr15:76633410-76633645	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr15:76633416-76633607	GM13976	blood:	n/a	n/a
39	CTCF	chr15:76648380-76648530	GM12864	blood:	n/a	n/a
40	CTCF	chr15:76632841-76632943	GM19238	blood:	n/a	n/a
41	CTCF	chr15:76633320-76633470	RPTEC	kidney:	n/a	n/a
42	CTCF	chr15:76633420-76633570	AG04449	skin:	n/a	n/a
43	CTCF	chr15:76633469-76633574	Lung_OC	lung:	n/a	n/a
44	CTCF	chr15:76633334-76633665	GM12878	blood:	n/a	n/a
45	CTCF	chr15:76633420-76633570	GM12873	blood:	n/a	n/a
46	CTCF	chr15:76633000-76633150	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr15:76632700-76632850	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr15:76633380-76633530	HPF	lung:	n/a	n/a
49	CTCF	chr15:76638820-76638970	NHEK	skin:	n/a	chr15:76638837-76638850
50	CTCF	chr15:76638820-76638970	HepG2	liver:	n/a	chr15:76638837-76638850

(count:1282 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:76633086-76633136	RPTEC	kidney:	n/a
2	chr15:76633086-76633136	RPTEC	kidney:	n/a
3	chr15:76639713-76639763	SK-N-SH	brain:	n/a
4	chr15:76635638-76635688	BJ	skin:	n/a
5	chr15:76635953-76636003	SK-N-MC	brain:	n/a
6	chr15:76635357-76635407	HUVEC	blood vessel:	n/a
7	chr15:76635514-76635564	GM12878	blood:	n/a
8	chr15:76640005-76640055	AG10803	skin:	n/a
9	chr15:76635953-76636003	GM06990	blood:	n/a
10	chr15:76633817-76633867	AoSMC	blood vessel:	n/a
11	chr15:76633364-76633414	BJ	skin:	n/a
12	chr15:76639713-76639763	Hepatocyte	liver:	n/a
13	chr15:76634380-76634430	AG04449	skin:	fetal
14	chr15:76638473-76638523	CMK	blood:	n/a
15	chr15:76633086-76633136	NHDF-neo	bronchial:	n/a
16	chr15:76632813-76632863	NH-A	brain:	n/a
17	chr15:76633627-76633677	U87	brain:	n/a
18	chr15:76635514-76635564	SAEC	small airway:	n/a
19	chr15:76634843-76634893	HCM	heart:	n/a
20	chr15:76632813-76632863	NB4	blood:	n/a
21	chr15:76639558-76639608	ProgFib	skin:	n/a
22	chr15:76638216-76638266	K562	blood:	n/a
23	chr15:76633627-76633677	T-47D	breast:	n/a
24	chr15:76638473-76638523	NHBE	bronchial:	n/a
25	chr15:76634454-76634504	PANC-1	pancreas:	n/a
26	chr15:76633817-76633867	Hepatocyte	liver:	n/a
27	chr15:76633627-76633677	HRCEpiC	kidney:	n/a
28	chr15:76635953-76636003	HRE	kidney:	n/a
29	chr15:76634380-76634430	RPTEC	kidney:	n/a
30	chr15:76633627-76633677	ECC-1	luminal epithelium:	n/a
31	chr15:76633086-76633136	SAEC	small airway:	n/a
32	chr15:76639212-76639262	GM19239	blood:	n/a
33	chr15:76634843-76634893	LNCaP	prostate:	n/a
34	chr15:76633364-76633414	T-47D	breast:	n/a
35	chr15:76638473-76638523	ProgFib	skin:	n/a
36	chr15:76635357-76635407	HCM	heart:	n/a
37	chr15:76638473-76638523	SKMC	muscle:	n/a
38	chr15:76634887-76634937	H1-hESC	embryonic stem cell:	embryo
39	chr15:76639212-76639262	SKMC	muscle:	n/a
40	chr15:76634380-76634430	SKMC	muscle:	n/a
41	chr15:76633364-76633414	HIPEpiC	eye:	n/a
42	chr15:76633364-76633414	NHDF-neo	bronchial:	n/a
43	chr15:76634516-76634566	HEK293	kidney:	embryo
44	chr15:76633817-76633867	ovcar-3	ovarian:	n/a
45	chr15:76635514-76635564	AoSMC	blood vessel:	n/a
46	chr15:76638473-76638523	SK-N-MC	brain:	n/a
47	chr15:76634380-76634430	NHBE	bronchial:	n/a
48	chr15:76635953-76636003	IMR90	lung:	fetal
49	chr15:76639713-76639763	AG04450	lung:	fetal
50	chr15:76635514-76635564	HCPEpiC	choroid plexus:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:76645100..76646638-chr15:76649972..76652010,2	K562	blood:
2	chr15:76628671..76632944-chr15:76633969..76642252,10	MCF-7	breast:
3	chr15:76625840..76631025-chr15:76637216..76641688,7	MCF-7	breast:
4	chr15:76482702..76486394-chr15:76633656..76636389,3	K562	blood:
5	chr15:76655095..76656625-chr15:76656910..76658925,2	K562	blood:
6	chr15:76601775..76604028-chr15:76652704..76655186,2	K562	blood:
7	chr15:76627980..76632315-chr15:76633215..76636196,5	MCF-7	breast:
8	chr15:76642774..76644385-chr15:76648635..76651524,2	K562	blood:
9	chr15:76481529..76484202-chr15:76633877..76636476,2	K562	blood:
10	chr15:76634433..76636784-chr15:76639688..76642552,2	MCF-7	breast:
11	chr15:76630323..76632934-chr15:77355490..77357171,2	K562	blood:
12	chr15:76655095..76656625-chr15:76656910..76658925,2	K562	blood:
13	chr15:76628671..76632944-chr15:76633969..76642252,10	MCF-7	breast:
14	chr15:76654411..76657574-chr15:76660615..76665795,4	K562	blood:
15	chr15:76645100..76646638-chr15:76649972..76652010,2	K562	blood:
16	chr15:76634896..76638270-chr15:76657044..76660007,3	K562	blood:
17	chr15:76654196..76656448-chr15:76658606..76661419,2	MCF-7	breast:
18	chr15:76651584..76653764-chr15:76658090..76659845,2	MCF-7	breast:
19	chr15:76651211..76653723-chr15:76658057..76660329,2	K562	blood:
20	chr15:76660945..76663101-chr15:76670042..76672423,3	MCF-7	breast:
21	chr15:76654196..76656448-chr15:76658606..76661419,2	MCF-7	breast:
22	chr15:76641252..76643550-chr15:76644457..76646516,2	MCF-7	breast:
23	chr15:76626919..76629539-chr15:76643967..76646665,2	MCF-7	breast:
24	chr15:76651115..76653988-chr15:76656127..76658474,2	MCF-7	breast:
25	chr15:76642774..76644385-chr15:76648635..76651524,2	K562	blood:
26	chr15:76637265..76640642-chr15:76644223..76647135,3	MCF-7	breast:
27	chr15:76630618..76633246-chr15:76671829..76673785,2	K562	blood:
28	chr15:76586734..76589503-chr15:76636258..76638931,2	K562	blood:
29	chr15:76601310..76610583-chr15:76618699..76634643,40	K562	blood:
30	chr15:76638304..76638890-chr19:16188696..16189520,2	Hela-S3	cervix:
31	chr15:76654411..76657574-chr15:76660615..76665795,4	K562	blood:
32	chr15:76641252..76643550-chr15:76644457..76646516,2	MCF-7	breast:
33	chr15:76441645..76443484-chr15:76650484..76652153,2	K562	blood:
34	chr15:76651584..76653764-chr15:76658090..76659845,2	MCF-7	breast:
35	chr15:76627109..76630617-chr15:76650461..76653550,4	MCF-7	breast:
36	chr15:76641041..76642748-chr15:76666424..76668885,2	K562	blood:
37	chr15:76601574..76614388-chr15:76623703..76634730,38	K562	blood:
38	chr15:76651115..76653988-chr15:76656127..76658474,2	MCF-7	breast:
39	chr15:76653804..76656033-chr15:76682972..76685314,2	K562	blood:
40	chr15:76651211..76653723-chr15:76658057..76660329,2	K562	blood:
41	chr15:76660891..76663592-chr15:76663710..76667547,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ISL2-1	chr15:76635983-76636706	ENSG00000270036.1

No data

Variant related genes	Relation type
SCAPER	TF binding region
ENSG00000270036	TF binding region
ENSG00000259514	TF binding region
SCAPER	CpG island
ENSG00000270036	CpG island
ENSG00000259514	CpG island
ENSG00000159556	chromatin interactions
ENSG00000140386	chromatin interactions
ENSG00000169758	chromatin interactions
ENSG00000259514	chromatin interactions
ENSG00000270036	chromatin interactions
ENSG00000140374	chromatin interactions

Extended variants
information (count: 974 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:974 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1810348	chr15:76632487-76632488	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs28699253	chr15:76632532-76632533	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs558838050	chr15:76632553-76632554	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs570780574	chr15:76632563-76632564	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs534641349	chr15:76632569-76632570	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs552677896	chr15:76632587-76632588	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs574516161	chr15:76632598-76632599	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs545439408	chr15:76632602-76632603	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs376971357	chr15:76632619-76632620	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs371415237	chr15:76632626-76632627	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs374940510	chr15:76632627-76632628	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs200917260	chr15:76632631-76632632	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs374903982	chr15:76632639-76632640	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs575520177	chr15:76632641-76632642	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs545987313	chr15:76632646-76632647	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs367795331	chr15:76632651-76632652	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs200011600	chr15:76632678-76632679	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs200114561	chr15:76632681-76632682	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs541451867	chr15:76632684-76632685	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs367845589	chr15:76632705-76632706	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs559480819	chr15:76632726-76632727	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs375432836	chr15:76632746-76632747	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs552886276	chr15:76632756-76632757	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs548400431	chr15:76632758-76632759	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs372019352	chr15:76632855-76632856	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs145440339	chr15:76632861-76632862	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs148825148	chr15:76632871-76632872	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs376307405	chr15:76632885-76632886	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs559849941	chr15:76632887-76632888	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs369945656	chr15:76632889-76632890	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs372898179	chr15:76632903-76632904	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs7180257	chr15:76632907-76632908	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs552329032	chr15:76632918-76632919	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs570842317	chr15:76632931-76632932	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs117918544	chr15:76632965-76632966	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs546620901	chr15:76633010-76633011	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs567965861	chr15:76633094-76633095	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs74844968	chr15:76633134-76633135	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs553054004	chr15:76633152-76633153	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs574370249	chr15:76633181-76633182	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs75544916	chr15:76633192-76633193	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs539674025	chr15:76633195-76633196	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs557971390	chr15:76633253-76633254	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs573135852	chr15:76633286-76633287	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs148103758	chr15:76633287-76633288	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs561975124	chr15:76633302-76633303	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs117096992	chr15:76633356-76633357	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs541671609	chr15:76633389-76633390	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs563467475	chr15:76633406-76633407	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs192837346	chr15:76633408-76633409	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1104 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76627400-76635400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr15:76627600-76634400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
3	chr15:76629000-76633600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
4	chr15:76629200-76632600	Bivalent Enhancer	Fetal Thymus	thymus
5	chr15:76629400-76633400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
6	chr15:76629800-76632800	Bivalent Enhancer	Stomach Mucosa	stomach
7	chr15:76630200-76641800	Weak transcription	A549	lung
8	chr15:76630400-76632600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
9	chr15:76630400-76636400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:76630600-76635600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:76631000-76632600	Bivalent Enhancer	Liver	Liver
12	chr15:76631200-76632600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:76631200-76633400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
14	chr15:76631400-76632600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:76631400-76633600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
16	chr15:76631600-76632600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr15:76631600-76632600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
18	chr15:76631600-76633200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
19	chr15:76631600-76633600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
20	chr15:76631600-76634800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr15:76631600-76636400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:76631800-76632800	Weak transcription	Hela-S3	cervix
23	chr15:76631800-76633600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
24	chr15:76631800-76633600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
25	chr15:76631800-76633600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
26	chr15:76631800-76634400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr15:76631800-76634400	Strong transcription	K562	blood
28	chr15:76631800-76635600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
29	chr15:76632000-76632600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:76632000-76632600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
31	chr15:76632000-76632800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr15:76632000-76632800	Bivalent/Poised TSS	Fetal Stomach	stomach
33	chr15:76632000-76632800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
34	chr15:76632000-76633200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
35	chr15:76632000-76633200	Active TSS	HSMM	muscle
36	chr15:76632000-76633400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
37	chr15:76632000-76633600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
38	chr15:76632000-76633600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
39	chr15:76632000-76633600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:76632000-76633600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:76632000-76633600	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
42	chr15:76632000-76634400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr15:76632000-76634400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:76632000-76634400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
45	chr15:76632000-76634400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
46	chr15:76632000-76634600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
47	chr15:76632000-76634600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr15:76632200-76632600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:76632200-76632600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
50	chr15:76632200-76632600	Bivalent/Poised TSS	Esophagus	oesophagus

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