Variant report

Variant	nsv521971
Chromosome Location	chr15:72666424-72678738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:72669014-72669015	K562	blood:	n/a	n/a
2	ATF2	chr15:72668149-72668787	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr15:72668056-72668553	GM12878	blood:	n/a	n/a
4	ATF2	chr15:72668079-72668719	GM12878	blood:	n/a	n/a
5	ATF2	chr15:72668106-72668603	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr15:72668103-72668651	H1-hESC	embryonic stem cell:	n/a	chr15:72668397-72668417 chr15:72668335-72668355 chr15:72668397-72668406
7	ATF3	chr15:72667957-72668745	A549	lung:	n/a	chr15:72668397-72668417 chr15:72668335-72668355 chr15:72668397-72668406
8	ATF3	chr15:72668040-72668616	K562	blood:	n/a	chr15:72668397-72668417 chr15:72668335-72668355 chr15:72668397-72668406
9	ATF3	chr15:72667923-72668642	GM12878	blood:	n/a	chr15:72668397-72668417 chr15:72668335-72668355 chr15:72668397-72668406
10	ATF3	chr15:72668124-72668584	GM12878	blood:	n/a	chr15:72668397-72668417 chr15:72668335-72668355 chr15:72668397-72668406
11	ATF3	chr15:72667915-72668672	K562	blood:	n/a	chr15:72668397-72668417 chr15:72668335-72668355 chr15:72668397-72668406
12	ATF3	chr15:72668030-72668592	H1-hESC	embryonic stem cell:	n/a	chr15:72668397-72668417 chr15:72668335-72668355 chr15:72668397-72668406
13	ATF3	chr15:72667947-72668709	A549	lung:	n/a	chr15:72668397-72668417 chr15:72668335-72668355 chr15:72668397-72668406
14	ATF3	chr15:72668111-72668647	HepG2	liver:	n/a	chr15:72668397-72668417 chr15:72668335-72668355 chr15:72668397-72668406
15	ATF3	chr15:72668080-72668649	HepG2	liver:	n/a	chr15:72668397-72668417 chr15:72668335-72668355 chr15:72668397-72668406
16	BCL11A	chr15:72668118-72668572	GM12878	blood:	n/a	chr15:72668458-72668467 chr15:72668455-72668464
17	BCL11A	chr15:72671811-72672028	GM12878	blood:	n/a	n/a
18	BCL3	chr15:72667758-72668901	A549	lung:	n/a	chr15:72668836-72668845 chr15:72668458-72668467 chr15:72668455-72668464
19	BCL3	chr15:72667877-72668982	A549	lung:	n/a	chr15:72668836-72668845 chr15:72668458-72668467 chr15:72668455-72668464
20	BCL3	chr15:72668122-72668615	GM12878	blood:	n/a	chr15:72668458-72668467 chr15:72668455-72668464
21	BCLAF1	chr15:72668006-72668766	GM12878	blood:	n/a	chr15:72668458-72668467 chr15:72668455-72668464
22	BCLAF1	chr15:72668145-72668699	GM12878	blood:	n/a	chr15:72668458-72668467 chr15:72668455-72668464
23	BHLHE40	chr15:72667818-72668958	K562	blood:	n/a	chr15:72668397-72668406 chr15:72668398-72668407 chr15:72668397-72668406 chr15:72668391-72668412 chr15:72668395-72668408
24	BHLHE40	chr15:72667931-72668923	HepG2	liver:	n/a	chr15:72668397-72668406 chr15:72668398-72668407 chr15:72668397-72668406 chr15:72668391-72668412 chr15:72668395-72668408
25	BHLHE40	chr15:72668173-72668708	HepG2	liver:	n/a	chr15:72668397-72668406 chr15:72668398-72668407 chr15:72668397-72668406 chr15:72668391-72668412 chr15:72668395-72668408
26	BHLHE40	chr15:72668039-72669016	GM12878	blood:	n/a	chr15:72668397-72668406 chr15:72668398-72668407 chr15:72668397-72668406 chr15:72668391-72668412 chr15:72668395-72668408
27	BHLHE40	chr15:72668207-72668671	A549	lung:	n/a	chr15:72668397-72668406 chr15:72668398-72668407 chr15:72668397-72668406 chr15:72668391-72668412 chr15:72668395-72668408
28	BRCA1	chr15:72668226-72668648	GM12878	blood:	n/a	n/a
29	BRCA1	chr15:72667989-72668563	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr15:72667869-72668660	Hela-S3	cervix:	n/a	n/a
31	CBX3	chr15:72668158-72668523	K562	blood:	n/a	n/a
32	CBX3	chr15:72667837-72668721	K562	blood:	n/a	n/a
33	CCNT2	chr15:72667860-72668903	K562	blood:	n/a	n/a
34	CEBPB	chr15:72677782-72677966	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr15:72677761-72678083	HepG2	liver:	n/a	n/a
36	CEBPB	chr15:72677794-72678054	A549	lung:	n/a	n/a
37	CEBPB	chr15:72668176-72668503	K562	blood:	n/a	n/a
38	CEBPB	chr15:72677800-72678046	IMR90	lung:	n/a	n/a
39	CEBPB	chr15:72677748-72678034	K562	blood:	n/a	n/a
40	CEBPB	chr15:72667989-72668871	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr15:72667875-72668644	GM12878	blood:	n/a	n/a
42	CEBPB	chr15:72671582-72671787	IMR90	lung:	n/a	n/a
43	CEBPD	chr15:72668234-72668582	HepG2	liver:	n/a	n/a
44	CEBPD	chr15:72667959-72668657	K562	blood:	n/a	n/a
45	CEBPD	chr15:72668129-72668698	HepG2	liver:	n/a	n/a
46	CHD1	chr15:72667866-72669102	GM12878	blood:	n/a	n/a
47	CHD2	chr15:72668046-72668658	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr15:72668034-72668630	HepG2	liver:	n/a	n/a
49	CHD2	chr15:72668883-72669011	K562	blood:	n/a	n/a
50	CHD2	chr15:72667941-72668922	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:72668042-72668092	GM19239	blood:	n/a
2	chr15:72667883-72667933	PrEC	prostate:	n/a
3	chr15:72668413-72668463	NB4	blood:	n/a
4	chr15:72668042-72668092	NHDF-neo	bronchial:	n/a
5	chr15:72668720-72668770	AG04449	skin:	fetal
6	chr15:72669047-72669097	SAEC	small airway:	n/a
7	chr15:72668114-72668164	AG04450	lung:	fetal
8	chr15:72668275-72668325	ECC-1	luminal epithelium:	n/a
9	chr15:72668130-72668180	ProgFib	skin:	n/a
10	chr15:72669047-72669097	ProgFib	skin:	n/a
11	chr15:72668130-72668180	BJ	skin:	n/a
12	chr15:72669047-72669097	HRPEpiC	eye:	n/a
13	chr15:72668275-72668325	NH-A	brain:	n/a
14	chr15:72668269-72668319	HEEpiC	esophagus:	n/a
15	chr15:72668720-72668770	AG10803	skin:	n/a
16	chr15:72668114-72668164	U87	brain:	n/a
17	chr15:72668269-72668319	HPAEpiC	pulmonary alveolar:	n/a
18	chr15:72669149-72669199	SK-N-SH	brain:	n/a
19	chr15:72667883-72667933	HRPEpiC	eye:	n/a
20	chr15:72668413-72668463	GM12892	blood:	n/a
21	chr15:72671985-72672035	NHDF-neo	bronchial:	n/a
22	chr15:72671985-72672035	HCT-116	colon:	n/a
23	chr15:72668265-72668315	HRE	kidney:	n/a
24	chr15:72667883-72667933	HIPEpiC	eye:	n/a
25	chr15:72668413-72668463	ovcar-3	ovarian:	n/a
26	chr15:72668042-72668092	CMK	blood:	n/a
27	chr15:72668543-72668593	ProgFib	skin:	n/a
28	chr15:72668413-72668463	HCF	heart:	n/a
29	chr15:72668042-72668092	AoSMC	blood vessel:	n/a
30	chr15:72668042-72668092	GM12891	blood:	n/a
31	chr15:72667883-72667933	HUVEC	blood vessel:	n/a
32	chr15:72668350-72668400	NHBE	bronchial:	n/a
33	chr15:72668657-72668707	NT2-D1	testis:	n/a
34	chr15:72668413-72668463	HIPEpiC	eye:	n/a
35	chr15:72668275-72668325	HRCEpiC	kidney:	n/a
36	chr15:72668130-72668180	SAEC	small airway:	n/a
37	chr15:72668130-72668180	PrEC	prostate:	n/a
38	chr15:72668265-72668315	HEEpiC	esophagus:	n/a
39	chr15:72668720-72668770	NB4	blood:	n/a
40	chr15:72671985-72672035	HIPEpiC	eye:	n/a
41	chr15:72667883-72667933	T-47D	breast:	n/a
42	chr15:72668269-72668319	T-47D	breast:	n/a
43	chr15:72668275-72668325	U87	brain:	n/a
44	chr15:72667883-72667933	RPTEC	kidney:	n/a
45	chr15:72668042-72668092	HUVEC	blood vessel:	n/a
46	chr15:72668130-72668180	AG10803	skin:	n/a
47	chr15:72668413-72668463	K562	blood:	n/a
48	chr15:72671985-72672035	GM19239	blood:	n/a
49	chr15:72668042-72668092	HAEpiC	amniotic membrane:	n/a
50	chr15:72669149-72669199	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72672210..72674476-chr15:72789128..72791611,2	MCF-7	breast:
2	chr14:69259233..69260141-chr15:72668206..72669170,2	Hela-S3	cervix:
3	chr15:72668330..72669227-chr17:59476887..59477547,2	MCF-7	breast:
4	chr15:72521644..72524080-chr15:72668948..72670929,2	MCF-7	breast:
5	chr15:72668155..72670512-chr20:49346499..49348280,2	MCF-7	breast:
6	chr15:72666924..72668810-chr17:56735242..56736980,2	MCF-7	breast:
7	chr15:72677155..72678832-chr15:72765731..72767908,2	MCF-7	breast:
8	chr15:72667788..72670263-chr15:72673288..72675129,2	MCF-7	breast:
9	chr15:72660052..72661960-chr15:72663740..72668025,4	MCF-7	breast:
10	chr15:72669180..72672003-chr15:72765406..72767515,3	K562	blood:
11	chr15:72672709..72674738-chr15:72742581..72744215,2	MCF-7	breast:
12	chr15:72672853..72674425-chr15:72675478..72677681,2	K562	blood:
13	chr15:72674377..72675186-chr15:72877692..72878568,2	MCF-7	breast:
14	chr15:72665297..72667242-chr15:72744937..72746629,2	K562	blood:
15	chr15:72672866..72674648-chr15:72766879..72768997,2	MCF-7	breast:
16	chr1:24151871..24152449-chr15:72668348..72668961,2	NB4	blood:
17	chr15:72667773..72668619-chr7:100026009..100026883,2	NB4	blood:
18	chr15:72667335..72670021-chr15:72670916..72672752,3	MCF-7	breast:
19	chr15:72667335..72670021-chr15:72670916..72672752,3	MCF-7	breast:
20	chr15:72667344..72672450-chr15:72764755..72768100,8	K562	blood:
21	chr15:72666408..72669827-chr15:72764535..72767754,3	MCF-7	breast:
22	chr15:72650512..72652405-chr15:72665607..72667984,2	K562	blood:
23	chr15:72672853..72674425-chr15:72675478..72677681,2	K562	blood:
24	chr15:72669000..72671381-chr15:72700452..72702096,2	MCF-7	breast:
25	chr15:72666558..72670735-chr15:72765041..72769475,12	MCF-7	breast:
26	chr15:72637386..72639806-chr15:72671952..72673876,2	K562	blood:
27	chr15:72673165..72676968-chr15:72765350..72768460,6	MCF-7	breast:
28	chr15:72518920..72521207-chr15:72667359..72669171,2	MCF-7	breast:
29	chr15:72677627..72680154-chr15:72878183..72880939,2	MCF-7	breast:
30	chr15:72667855..72668805-chr19:3506092..3506708,2	Hela-S3	cervix:
31	chr15:72667863..72668401-chr3:73159932..73160626,2	Hela-S3	cervix:
32	chr15:72658842..72661325-chr15:72665023..72667156,2	K562	blood:
33	chr15:72667201..72670488-chr15:72672607..72675873,3	K562	blood:
34	chr15:72523860..72524413-chr15:72668313..72668819,2	Hela-S3	cervix:
35	chr15:72668754..72670395-chr15:72675953..72677752,2	K562	blood:
36	chr15:72667956..72668530-chr9:140135073..140135812,3	Hela-S3	cervix:
37	chr15:72612273..72613953-chr15:72667924..72670021,2	K562	blood:
38	chr15:72561194..72564093-chr15:72666798..72669351,2	MCF-7	breast:
39	chr15:72668754..72670960-chr15:72675953..72678141,2	K562	blood:
40	chr15:72667845..72668386-chr15:72766555..72767490,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260729	TF binding region
HEXA-AS1	TF binding region
ENSG00000243007	TF binding region
HEXA	TF binding region
ENSG00000260729	CpG island
HEXA-AS1	CpG island
ENSG00000243007	CpG island
HEXA	CpG island
ENSG00000105325	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000243007	chromatin interactions
ENSG00000185650	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000137817	chromatin interactions
ENSG00000260729	chromatin interactions
ENSG00000213614	chromatin interactions
ENSG00000271072	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000166233	chromatin interactions
ENSG00000207690	chromatin interactions
ENSG00000117305	chromatin interactions
ENSG00000273025	chromatin interactions
ENSG00000067225	chromatin interactions
ENSG00000260339	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000140488	chromatin interactions
ENSG00000261423	chromatin interactions
ENSG00000124171	chromatin interactions

Extended variants
information (count: 460 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12899167	chr15:72666424-72666425	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560038099	chr15:72666440-72666441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs58696963	chr15:72666445-72666446	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs370316270	chr15:72666447-72666448	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs372267193	chr15:72666448-72666449	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs398057824	chr15:72666449-72666450	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs199978584	chr15:72666562-72666563	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs527549149	chr15:72666570-72666571	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs397724994	chr15:72666571-72666572	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs201133587	chr15:72666572-72666573	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs548851666	chr15:72666614-72666615	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs140463021	chr15:72666624-72666625	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558644425	chr15:72666626-72666627	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538227309	chr15:72666660-72666661	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs572071638	chr15:72666734-72666735	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs571667140	chr15:72666749-72666750	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs80093196	chr15:72666760-72666761	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs554369286	chr15:72666797-72666798	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs34496117	chr15:72666888-72666889	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs67256256	chr15:72666889-72666890	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs71133988	chr15:72666890-72666891	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs201818519	chr15:72666891-72666892	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs199905437	chr15:72666892-72666893	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs555300139	chr15:72666895-72666896	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs573597940	chr15:72666902-72666903	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs531538592	chr15:72666907-72666908	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs554861305	chr15:72666970-72666971	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs28572383	chr15:72667008-72667009	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs562449056	chr15:72667036-72667037	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs550072661	chr15:72667194-72667195	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs12904366	chr15:72667215-72667216	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs559951607	chr15:72667295-72667296	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs527478424	chr15:72667302-72667303	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs548905514	chr15:72667391-72667392	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs199673103	chr15:72667403-72667404	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs377545705	chr15:72667404-72667405	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs200595117	chr15:72667423-72667424	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs563192897	chr15:72667430-72667431	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs531612453	chr15:72667436-72667437	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs58016062	chr15:72667437-72667438	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs550117658	chr15:72667446-72667447	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs571419343	chr15:72667505-72667506	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs7170481	chr15:72667516-72667517	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs12905052	chr15:72667581-72667582	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs117973455	chr15:72667702-72667703	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs547888903	chr15:72667722-72667723	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs532346060	chr15:72667737-72667738	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs536833422	chr15:72667742-72667743	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs114580705	chr15:72667769-72667770	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs570286469	chr15:72667842-72667843	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Lung cancer	18438408	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Autism	20678247	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72613200-72666800	Weak transcription	Fetal Heart	heart
2	chr15:72613400-72667600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:72634600-72667400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:72640600-72667200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:72642000-72667000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr15:72648400-72667600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:72648600-72667000	Weak transcription	Colonic Mucosa	Colon
8	chr15:72648600-72667200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr15:72648800-72667000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:72649000-72667600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:72649200-72666800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:72649200-72667000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:72649200-72667000	Weak transcription	Fetal Brain Female	brain
14	chr15:72649200-72667600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr15:72649400-72666600	Weak transcription	Gastric	stomach
16	chr15:72649400-72667000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr15:72651400-72667200	Weak transcription	Brain Angular Gyrus	brain
18	chr15:72651600-72667800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:72651800-72666800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:72651800-72667000	Weak transcription	NHDF-Ad	bronchial
21	chr15:72651800-72667000	Weak transcription	Osteobl	bone
22	chr15:72651800-72667200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:72651800-72667200	Weak transcription	HSMM	muscle
24	chr15:72651800-72667200	Weak transcription	NHLF	lung
25	chr15:72658800-72666600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr15:72659400-72667000	Weak transcription	HSMMtube	muscle
27	chr15:72659600-72666600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr15:72660200-72666600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:72660200-72666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:72661200-72667400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr15:72661400-72667200	Weak transcription	Right Ventricle	heart
32	chr15:72661600-72667400	Weak transcription	Esophagus	oesophagus
33	chr15:72661600-72667800	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr15:72661800-72666600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr15:72661800-72667000	Weak transcription	Fetal Kidney	kidney
36	chr15:72661800-72667200	Weak transcription	Stomach Mucosa	stomach
37	chr15:72662200-72666600	Weak transcription	Right Atrium	heart
38	chr15:72662200-72667000	Weak transcription	Placenta	Placenta
39	chr15:72663000-72666600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr15:72663000-72666800	Weak transcription	HUVEC	blood vessel
41	chr15:72663000-72667000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr15:72663000-72667000	Weak transcription	Fetal Lung	lung
43	chr15:72663000-72667200	Weak transcription	HMEC	breast
44	chr15:72663200-72666600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr15:72663200-72666600	Weak transcription	Fetal Intestine Large	intestine
46	chr15:72663200-72667000	Weak transcription	NHEK	skin
47	chr15:72663400-72666600	Genic enhancers	Primary B cells from peripheral blood	blood
48	chr15:72663400-72667800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:72663600-72667000	Weak transcription	Fetal Thymus	thymus
50	chr15:72663800-72666600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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