Variant report

Variant	esv3341795
Chromosome Location	chr15:72766123-72768671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1058)
CpG islands
(count:733)
Chromatin interactive
region (count:49)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1058 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:72765473-72766792	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:72767457-72767657	HepG2	liver:	n/a	n/a
3	ARID3A	chr15:72765861-72766266	K562	blood:	n/a	n/a
4	ATF1	chr15:72765415-72766833	K562	blood:	n/a	chr15:72766643-72766657
5	ATF2	chr15:72765757-72766895	GM12878	blood:	n/a	chr15:72766643-72766657
6	ATF2	chr15:72765717-72766773	H1-hESC	embryonic stem cell:	n/a	chr15:72766643-72766657
7	ATF2	chr15:72765765-72766771	GM12878	blood:	n/a	chr15:72766643-72766657
8	ATF2	chr15:72765825-72766819	H1-hESC	embryonic stem cell:	n/a	chr15:72766643-72766657
9	ATF3	chr15:72765720-72766864	A549	lung:	n/a	chr15:72766594-72766614 chr15:72766105-72766112 chr15:72766104-72766112 chr15:72766105-72766113 chr15:72766646-72766660 chr15:72766620-72766640 chr15:72766101-72766116
10	ATF3	chr15:72765844-72766327	K562	blood:	n/a	chr15:72766105-72766112 chr15:72766104-72766112 chr15:72766105-72766113 chr15:72766101-72766116
11	ATF3	chr15:72765891-72766911	A549	lung:	n/a	chr15:72766594-72766614 chr15:72766105-72766112 chr15:72766104-72766112 chr15:72766105-72766113 chr15:72766646-72766660 chr15:72766620-72766640 chr15:72766101-72766116
12	ATF3	chr15:72766454-72766768	K562	blood:	n/a	chr15:72766594-72766614 chr15:72766646-72766660 chr15:72766620-72766640
13	ATF3	chr15:72765937-72766280	K562	blood:	n/a	chr15:72766105-72766112 chr15:72766104-72766112 chr15:72766105-72766113 chr15:72766101-72766116
14	BACH1	chr15:72765944-72766716	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr15:72766009-72766177	GM12878	blood:	n/a	chr15:72766102-72766115
16	BCL3	chr15:72765776-72766785	A549	lung:	n/a	chr15:72766587-72766600
17	BCL3	chr15:72766392-72766782	GM12878	blood:	n/a	chr15:72766587-72766600
18	BCL3	chr15:72765450-72767786	A549	lung:	n/a	chr15:72767688-72767697 chr15:72766587-72766600 chr15:72767366-72767375
19	BCL3	chr15:72767299-72768002	A549	lung:	n/a	chr15:72767688-72767697 chr15:72767366-72767375
20	BCLAF1	chr15:72767244-72767821	GM12878	blood:	n/a	chr15:72767688-72767697 chr15:72767366-72767375
21	BCLAF1	chr15:72767234-72767699	GM12878	blood:	n/a	chr15:72767688-72767697 chr15:72767366-72767375
22	BCLAF1	chr15:72765888-72766834	GM12878	blood:	n/a	chr15:72766587-72766600
23	BCLAF1	chr15:72765843-72766924	GM12878	blood:	n/a	chr15:72766587-72766600
24	BHLHE40	chr15:72767284-72767629	K562	blood:	n/a	chr15:72767364-72767380
25	BHLHE40	chr15:72765602-72766850	GM12878	blood:	n/a	chr15:72766718-72766734
26	BHLHE40	chr15:72767305-72767937	GM12878	blood:	n/a	chr15:72767364-72767380
27	BHLHE40	chr15:72765990-72766907	K562	blood:	n/a	chr15:72766718-72766734
28	BHLHE40	chr15:72765990-72766815	HepG2	liver:	n/a	chr15:72766718-72766734
29	BRCA1	chr15:72766061-72766692	H1-hESC	embryonic stem cell:	n/a	chr15:72766241-72766248
30	BRCA1	chr15:72766046-72766852	GM12878	blood:	n/a	chr15:72766241-72766248
31	BRCA1	chr15:72766023-72767132	HepG2	liver:	n/a	chr15:72766241-72766248
32	BRCA1	chr15:72767460-72768018	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr15:72765743-72766810	Hela-S3	cervix:	n/a	chr15:72766241-72766248
34	CBX3	chr15:72767253-72767695	K562	blood:	n/a	n/a
35	CBX3	chr15:72765782-72766378	K562	blood:	n/a	n/a
36	CBX3	chr15:72766387-72766881	K562	blood:	n/a	n/a
37	CCNT2	chr15:72766089-72767776	K562	blood:	n/a	n/a
38	CEBPB	chr15:72766045-72766926	ECC-1	luminal epithelium:	n/a	n/a
39	CEBPB	chr15:72768630-72768837	K562	blood:	n/a	chr15:72768761-72768772
40	CEBPB	chr15:72765793-72766912	A549	lung:	n/a	n/a
41	CEBPB	chr15:72765948-72766776	K562	blood:	n/a	n/a
42	CEBPB	chr15:72765929-72766798	IMR90	lung:	n/a	n/a
43	CEBPB	chr15:72767397-72767676	HepG2	liver:	n/a	n/a
44	CEBPB	chr15:72765949-72766791	A549	lung:	n/a	n/a
45	CEBPB	chr15:72766008-72766902	HepG2	liver:	n/a	n/a
46	CEBPB	chr15:72767398-72767670	K562	blood:	n/a	n/a
47	CEBPB	chr15:72768650-72768896	IMR90	lung:	n/a	chr15:72768761-72768772
48	CEBPB	chr15:72765752-72766543	GM12878	blood:	n/a	n/a
49	CEBPB	chr15:72768671-72768864	Hela-S3	cervix:	n/a	chr15:72768761-72768772
50	CEBPB	chr15:72766486-72766707	HepG2	liver:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:72766740-72766790	NHBE	bronchial:	n/a
2	chr15:72766740-72766790	NHBE	bronchial:	n/a
3	chr15:72766139-72766189	MCF-7	breast:	n/a
4	chr15:72766732-72766782	MCF-7	breast:	n/a
5	chr15:72767565-72767615	SKMC	muscle:	n/a
6	chr15:72766740-72766790	ECC-1	luminal epithelium:	n/a
7	chr15:72766637-72766687	HRCEpiC	kidney:	n/a
8	chr15:72766637-72766687	GM12892	blood:	n/a
9	chr15:72766291-72766341	U87	brain:	n/a
10	chr15:72766732-72766782	LNCaP	prostate:	n/a
11	chr15:72766139-72766189	NHDF-neo	bronchial:	n/a
12	chr15:72766291-72766341	NH-A	brain:	n/a
13	chr15:72766139-72766189	AG04450	lung:	fetal
14	chr15:72766497-72766547	NHBE	bronchial:	n/a
15	chr15:72767332-72767382	AG04449	skin:	fetal
16	chr15:72766497-72766547	HIPEpiC	eye:	n/a
17	chr15:72766497-72766547	HAEpiC	amniotic membrane:	n/a
18	chr15:72766139-72766189	MCF10A-Er-Src	breast:	n/a
19	chr15:72766609-72766659	NHDF-neo	bronchial:	n/a
20	chr15:72766637-72766687	GM12891	blood:	n/a
21	chr15:72766291-72766341	SK-N-SH	brain:	n/a
22	chr15:72766486-72766536	Hela-S3	cervix:	n/a
23	chr15:72767565-72767615	H1-hESC	embryonic stem cell:	embryo
24	chr15:72766139-72766189	Hela-S3	cervix:	n/a
25	chr15:72766486-72766536	HCM	heart:	n/a
26	chr15:72767139-72767189	HAEpiC	amniotic membrane:	n/a
27	chr15:72767565-72767615	HCM	heart:	n/a
28	chr15:72767565-72767615	HAEpiC	amniotic membrane:	n/a
29	chr15:72766470-72766520	LNCaP	prostate:	n/a
30	chr15:72766609-72766659	HCT-116	colon:	n/a
31	chr15:72766497-72766547	BJ	skin:	n/a
32	chr15:72767139-72767189	AG09319	gingival:	n/a
33	chr15:72767139-72767189	PrEC	prostate:	n/a
34	chr15:72766139-72766189	HL-60	blood:	n/a
35	chr15:72766497-72766547	Caco-2	colon:	n/a
36	chr15:72766732-72766782	HUVEC	blood vessel:	n/a
37	chr15:72766470-72766520	NH-A	brain:	n/a
38	chr15:72767565-72767615	HEK293	kidney:	embryo
39	chr15:72767332-72767382	GM19239	blood:	n/a
40	chr15:72767139-72767189	MCF-7	breast:	n/a
41	chr15:72766470-72766520	IMR90	lung:	fetal
42	chr15:72767139-72767189	IMR90	lung:	fetal
43	chr15:72766139-72766189	HRCEpiC	kidney:	n/a
44	chr15:72766470-72766520	PrEC	prostate:	n/a
45	chr15:72766470-72766520	HepG2	liver:	n/a
46	chr15:72767565-72767615	GM19239	blood:	n/a
47	chr15:72766139-72766189	HUVEC	blood vessel:	n/a
48	chr15:72766139-72766189	SK-N-MC	brain:	n/a
49	chr15:72766139-72766189	GM19239	blood:	n/a
50	chr15:72766486-72766536	Hepatocyte	liver:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72766031..72766916-chr19:39881711..39882606,3	Hela-S3	cervix:
2	chr15:72766345..72767161-chr16:2029216..2029791,2	Hela-S3	cervix:
3	chr15:72766094..72767084-chr8:95731493..95732399,2	Hela-S3	cervix:
4	chr15:72766426..72767386-chr19:55580332..55581086,2	Hela-S3	cervix:
5	chr15:72649215..72653843-chr15:72765321..72768285,4	MCF-7	breast:
6	chr12:58334615..58335529-chr15:72766822..72767478,2	NB4	blood:
7	chr15:72766264..72766975-chr6:75952786..75953522,2	Hela-S3	cervix:
8	chr15:72742962..72745809-chr15:72764358..72766379,2	MCF-7	breast:
9	chr15:72692001..72694745-chr15:72764264..72766502,3	MCF-7	breast:
10	chr15:72651340..72653865-chr15:72768318..72770025,2	MCF-7	breast:
11	chr15:72519181..72521639-chr15:72766210..72768068,3	MCF-7	breast:
12	chr13:60970459..60971145-chr15:72766308..72766853,2	Hela-S3	cervix:
13	chr15:72597786..72600011-chr15:72766508..72768760,2	K562	blood:
14	chr15:72667845..72668386-chr15:72766555..72767490,2	MCF-7	breast:
15	chr15:72609440..72614186-chr15:72765313..72769259,6	MCF-7	breast:
16	chr15:72765821..72767148-chr3:160282369..160283817,3	Hela-S3	cervix:
17	chr15:72765649..72767573-chr15:72851905..72854681,2	MCF-7	breast:
18	chr15:72558362..72561235-chr15:72766233..72767996,2	MCF-7	breast:
19	chr15:72765898..72766528-chr22:39096921..39097517,2	Hela-S3	cervix:
20	chr15:72766134..72766991-chr4:170541028..170542024,2	Hela-S3	cervix:
21	chr15:72766307..72767210-chr5:40834451..40835447,2	Hela-S3	cervix:
22	chr15:72765203..72766825-chr15:73342381..73345092,2	MCF-7	breast:
23	chr10:112678753..112679731-chr15:72766280..72767015,2	Hela-S3	cervix:
24	chr12:39836717..39837250-chr15:72766168..72767135,2	Hela-S3	cervix:
25	chr15:72667344..72672450-chr15:72764755..72768100,8	K562	blood:
26	chr10:97889581..97890385-chr15:72766087..72766662,2	NB4	blood:
27	chr15:72635873..72639008-chr15:72766396..72768888,3	MCF-7	breast:
28	chr15:72521977..72524663-chr15:72766747..72769820,3	MCF-7	breast:
29	chr15:72666408..72669827-chr15:72764535..72767754,3	MCF-7	breast:
30	chr15:72523282..72524844-chr15:72764635..72767200,2	MCF-7	breast:
31	chr15:72765939..72768920-chr17:57914780..57917464,3	MCF-7	breast:
32	chr15:72766606..72767120-chr20:34680361..34680953,2	Hela-S3	cervix:
33	chr15:72765370..72766302-chr5:43313191..43314042,2	Hela-S3	cervix:
34	chr15:72765119..72766854-chr2:171784790..171787087,2	K562	blood:
35	chr15:72666558..72670735-chr15:72765041..72769475,12	MCF-7	breast:
36	chr15:72765683..72767705-chr9:134393823..134395690,2	MCF-7	breast:
37	chr15:72750881..72760234-chr15:72764528..72769120,23	MCF-7	breast:
38	chr15:72766257..72767092-chr8:101733763..101734643,2	HCT-116	colon:
39	chr15:72563307..72566923-chr15:72766066..72767771,5	K562	blood:
40	chr15:31283761..31284351-chr15:72766188..72766795,2	Hela-S3	cervix:
41	chr15:72766092..72766632-chr6:111136617..111137192,2	Hela-S3	cervix:
42	chr15:72766492..72767388-chr2:192542439..192543245,2	NB4	blood:
43	chr15:72764850..72767674-chr15:72977020..72979928,5	K562	blood:
44	chr15:72563307..72566923-chr15:72766066..72767771,3	K562	blood:
45	chr15:72764026..72766932-chr15:72877151..72879938,2	K562	blood:
46	chr15:72476533..72478146-chr15:72764010..72766539,2	MCF-7	breast:
47	chr15:72520897..72524301-chr15:72765072..72768298,5	K562	blood:
48	chr15:72497804..72499839-chr15:72765083..72768033,2	K562	blood:
49	chr15:72458549..72461101-chr15:72765178..72767894,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HEXA-3	chr15:72766216-72766550	ENSG00000261423.1
2	lnc-HEXA-3	chr15:72766216-72766399	XLOC_011523
3	lnc-HEXA-3	chr15:72766216-72766615	XLOC_011523
4	lnc-HEXA-3	chr15:72761633-72766666	NONHSAT047096

No data

Variant related genes	Relation type
ENSG00000261423	TF binding region
ARIH1	TF binding region
ENSG00000261423	CpG island
ARIH1	CpG island
ENSG00000173559	chromatin interactions
ENSG00000112695	chromatin interactions
ENSG00000088367	chromatin interactions
ENSG00000155111	chromatin interactions
ENSG00000137817	chromatin interactions
ENSG00000166896	chromatin interactions
ENSG00000115806	chromatin interactions
ENSG00000166912	chromatin interactions
ENSG00000260729	chromatin interactions
ENSG00000160439	chromatin interactions
ENSG00000261187	chromatin interactions
ENSG00000070756	chromatin interactions
ENSG00000139116	chromatin interactions
ENSG00000166233	chromatin interactions
ENSG00000140488	chromatin interactions
ENSG00000108061	chromatin interactions
ENSG00000207690	chromatin interactions
ENSG00000067225	chromatin interactions
ENSG00000186432	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000243007	chromatin interactions
ENSG00000273025	chromatin interactions
ENSG00000112972	chromatin interactions
ENSG00000083544	chromatin interactions
ENSG00000109572	chromatin interactions
ENSG00000214413	chromatin interactions
ENSG00000252974	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000229320	chromatin interactions
ENSG00000196408	chromatin interactions
ENSG00000271072	chromatin interactions
ENSG00000067141	chromatin interactions
ENSG00000063322	chromatin interactions
ENSG00000156162	chromatin interactions
ENSG00000177853	chromatin interactions
ENSG00000100221	chromatin interactions
ENSG00000213614	chromatin interactions
ENSG00000175202	chromatin interactions
ENSG00000175318	chromatin interactions
ENSG00000140463	chromatin interactions
ENSG00000260339	chromatin interactions
ENSG00000006712	chromatin interactions
ENSG00000130714	chromatin interactions
IL8	miRNA target sites

Extended variants
information (count: 98 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564831993	chr15:72766155-72766156	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	Overlapped CNVs	n/a
2	rs532576113	chr15:72766356-72766357	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	39 gene(s)	Overlapped CNVs	n/a
3	rs545223887	chr15:72766371-72766372	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	39 gene(s)	Overlapped CNVs	n/a
4	rs559823841	chr15:72766388-72766389	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	38 gene(s)	Overlapped CNVs	n/a
5	rs144658946	chr15:72766441-72766442	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	39 gene(s)	Overlapped CNVs	n/a
6	rs115603782	chr15:72766458-72766459	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	39 gene(s)	Overlapped CNVs	n/a
7	rs548666702	chr15:72766474-72766475	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	Overlapped CNVs	n/a
8	rs570272399	chr15:72766475-72766476	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	Overlapped CNVs	n/a
9	rs531079263	chr15:72766517-72766518	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	Overlapped CNVs	n/a
10	rs182614593	chr15:72766518-72766519	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	Overlapped CNVs	n/a
11	rs552946198	chr15:72766602-72766603	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	40 gene(s)	Overlapped CNVs	n/a
12	rs571041362	chr15:72766608-72766609	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
13	rs568747610	chr15:72766612-72766613	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
14	rs58719663	chr15:72766614-72766615	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
15	rs201195811	chr15:72766617-72766618	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
16	rs558310121	chr15:72766675-72766676	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
17	rs187106179	chr15:72766683-72766684	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
18	rs553510646	chr15:72766712-72766713	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
19	rs377334917	chr15:72766718-72766719	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
20	rs541660051	chr15:72766795-72766796	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
21	rs563320278	chr15:72766894-72766895	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
22	rs535952731	chr15:72766909-72766910	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
23	rs112702555	chr15:72766933-72766934	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
24	rs554200284	chr15:72766953-72766954	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
25	rs575881343	chr15:72766960-72766961	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
26	rs369855940	chr15:72766973-72766974	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
27	rs150850057	chr15:72767019-72767020	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
28	rs534030629	chr15:72767035-72767036	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
29	rs192648643	chr15:72767052-72767053	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
30	rs143905502	chr15:72767053-72767054	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
31	rs558844066	chr15:72767109-72767110	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
32	rs149715058	chr15:72767145-72767146	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
33	rs541290862	chr15:72767169-72767170	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
34	rs559502830	chr15:72767207-72767208	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
35	rs375614248	chr15:72767215-72767216	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
36	rs12902861	chr15:72767230-72767231	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
37	rs373373660	chr15:72767244-72767245	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
38	rs368784844	chr15:72767279-72767280	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs199624291	chr15:72767292-72767293	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
40	rs12903022	chr15:72767301-72767302	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
41	rs12903051	chr15:72767368-72767369	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
42	rs542346070	chr15:72767372-72767373	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
43	rs372987160	chr15:72767374-72767375	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
44	rs377410220	chr15:72767385-72767386	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
45	rs12903179	chr15:72767394-72767395	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs531163545	chr15:72767401-72767402	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs372199615	chr15:72767421-72767422	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs12903193	chr15:72767429-72767430	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs552784695	chr15:72767461-72767462	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs570997538	chr15:72767499-72767500	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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

Chromatin state (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72761000-72766200	Weak transcription	Small Intestine	intestine
2	chr15:72765400-72766200	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr15:72765400-72766200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr15:72765400-72766200	Flanking Active TSS	Osteobl	bone
5	chr15:72765400-72766400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:72765400-72766400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:72765400-72766400	Flanking Active TSS	HMEC	breast
8	chr15:72765400-72766400	Flanking Active TSS	HSMM	muscle
9	chr15:72765400-72766400	Flanking Active TSS	NH-A	brain
10	chr15:72765400-72768600	Active TSS	H1 Cell Line	embryonic stem cell
11	chr15:72765400-72768800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:72765400-72769000	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr15:72765400-72769200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr15:72765600-72766200	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr15:72765600-72766200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr15:72765600-72766200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:72765600-72766200	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr15:72765600-72766200	Flanking Active TSS	HUVEC	blood vessel
19	chr15:72765600-72766400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr15:72765600-72768200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:72765600-72768200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:72765600-72768200	Active TSS	Left Ventricle	heart
23	chr15:72765600-72768400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr15:72765600-72768400	Active TSS	Aorta	Aorta
25	chr15:72765600-72768400	Active TSS	Fetal Muscle Trunk	muscle
26	chr15:72765600-72768600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:72765600-72769200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:72765600-72769200	Active TSS	Right Ventricle	heart
29	chr15:72765800-72766200	Flanking Active TSS	Fetal Thymus	thymus
30	chr15:72765800-72766400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr15:72765800-72766400	Active TSS	Right Atrium	heart
32	chr15:72765800-72766600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr15:72765800-72766600	Flanking Active TSS	Placenta	Placenta
34	chr15:72765800-72767800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:72765800-72767800	Active TSS	Liver	Liver
36	chr15:72765800-72767800	Active TSS	Brain Angular Gyrus	brain
37	chr15:72765800-72767800	Active TSS	Brain Cingulate Gyrus	brain
38	chr15:72765800-72767800	Active TSS	Colonic Mucosa	Colon
39	chr15:72765800-72767800	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr15:72765800-72768000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:72765800-72768000	Active TSS	Brain Hippocampus Middle	brain
42	chr15:72765800-72768000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:72765800-72768000	Active TSS	Fetal Lung	lung
44	chr15:72765800-72768000	Active TSS	Fetal Stomach	stomach
45	chr15:72765800-72768000	Active TSS	Rectal Smooth Muscle	rectum
46	chr15:72765800-72768000	Active TSS	Spleen	Spleen
47	chr15:72765800-72768200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr15:72765800-72768200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr15:72765800-72768200	Active TSS	Brain Germinal Matrix	brain
50	chr15:72765800-72768200	Active TSS	Colon Smooth Muscle	Colon

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