Variant report

Variant	rs531079263
Chromosome Location	chr15:72766517-72766518
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:527)
CpG islands
(count:183)
Chromatin interactive
region (count:41)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:527 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr15:72766244-72766753	HepG2	liver:	n/a	n/a
2	MYC	chr15:72766111-72766768	K562	blood:	n/a	n/a
3	TBP	chr15:72765836-72766875	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr15:72765894-72767099	GM12892	blood:	n/a	n/a
5	CREB1	chr15:72765774-72767081	GM12878	blood:	n/a	chr15:72766102-72766115
6	E2F4	chr15:72765886-72766752	MCF10A-Er-Src	breast:	n/a	chr15:72766103-72766112 chr15:72766290-72766302 chr15:72766105-72766114 chr15:72766301-72766308
7	CEBPD	chr15:72766362-72766906	K562	blood:	n/a	n/a
8	E2F6	chr15:72766448-72767254	K562	blood:	n/a	n/a
9	CTCF	chr15:72765872-72766854	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:72765737-72766951	SK-N-SH	brain:	n/a	n/a
11	JUND	chr15:72766418-72766758	HepG2	liver:	n/a	n/a
12	BCL3	chr15:72765450-72767786	A549	lung:	n/a	chr15:72767688-72767697 chr15:72766587-72766600 chr15:72767366-72767375
13	TCF7L2	chr15:72766048-72766800	Hela-S3	cervix:	n/a	chr15:72766657-72766666
14	IRF1	chr15:72765670-72766919	K562	blood:	n/a	n/a
15	PAX5	chr15:72766461-72766730	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:72765868-72766909	U87	brain:	n/a	n/a
17	JUN	chr15:72765892-72766812	K562	blood:	n/a	chr15:72766104-72766113 chr15:72766289-72766298 chr15:72766100-72766113
18	JUN	chr15:72765884-72766634	K562	blood:	n/a	chr15:72766104-72766113 chr15:72766289-72766298 chr15:72766100-72766113
19	ATF2	chr15:72765765-72766771	GM12878	blood:	n/a	chr15:72766643-72766657
20	POLR2A	chr15:72765802-72767083	K562	blood:	n/a	n/a
21	CREB1	chr15:72765816-72767157	HepG2	liver:	n/a	chr15:72766102-72766115
22	MYC	chr15:72766230-72767688	MCF-7	breast:	n/a	n/a
23	TCF3	chr15:72766369-72766764	GM12878	blood:	n/a	n/a
24	TBP	chr15:72765837-72767840	K562	blood:	n/a	n/a
25	FOS	chr15:72765839-72766716	MCF10A-Er-Src	breast:	n/a	chr15:72766104-72766113 chr15:72766289-72766298
26	SIN3A	chr15:72765845-72767732	GM12878	blood:	n/a	n/a
27	BCL3	chr15:72765776-72766785	A549	lung:	n/a	chr15:72766587-72766600
28	REST	chr15:72766357-72766747	Hela-S3	cervix:	n/a	n/a
29	TAL1	chr15:72765477-72767094	K562	blood:	n/a	n/a
30	RFX5	chr15:72765996-72766782	GM12878	blood:	n/a	chr15:72766230-72766245 chr15:72766230-72766245 chr15:72766229-72766246 chr15:72766230-72766245
31	BHLHE40	chr15:72765602-72766850	GM12878	blood:	n/a	chr15:72766718-72766734
32	GATA3	chr15:72765698-72767958	A549	lung:	n/a	n/a
33	POLR2A	chr15:72765819-72767923	GM12878	blood:	n/a	n/a
34	POLR2A	chr15:72765859-72766849	HepG2	liver:	n/a	n/a
35	POLR2A	chr15:72765298-72767176	SK-N-MC	brain:	n/a	n/a
36	IRF4	chr15:72765942-72766517	GM12878	blood:	n/a	n/a
37	MAX	chr15:72765355-72768226	A549	lung:	n/a	n/a
38	STAT3	chr15:72765910-72766610	MCF10A-Er-Src	breast:	n/a	n/a
39	EP300	chr15:72765800-72766845	K562	blood:	n/a	chr15:72766476-72766492 chr15:72766581-72766597 chr15:72766037-72766047
40	JUND	chr15:72765340-72768137	SK-N-SH	brain:	n/a	chr15:72766104-72766113 chr15:72766289-72766298
41	POLR2A	chr15:72765904-72767199	ECC-1	luminal epithelium:	n/a	n/a
42	MYC	chr15:72765912-72768147	MCF10A-Er-Src	breast:	n/a	n/a
43	TAF7	chr15:72766165-72766867	H1-hESC	embryonic stem cell:	n/a	n/a
44	BCLAF1	chr15:72765843-72766924	GM12878	blood:	n/a	chr15:72766587-72766600
45	POLR2A	chr15:72765973-72767885	GM18526	blood:	n/a	n/a
46	HEY1	chr15:72765980-72767054	K562	blood:	n/a	chr15:72766722-72766737
47	RELA	chr15:72765805-72767007	GM12891	blood:	n/a	n/a
48	MAX	chr15:72765872-72767800	ECC-1	luminal epithelium:	n/a	n/a
49	RCOR1	chr15:72766009-72767045	HepG2	liver:	n/a	n/a
50	JUND	chr15:72765893-72767014	GM12878	blood:	n/a	chr15:72766104-72766113 chr15:72766289-72766298

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:72766486-72766536	PANC-1	pancreas:	n/a
2	chr15:72766497-72766547	SK-N-MC	brain:	n/a
3	chr15:72766497-72766547	HPAEpiC	pulmonary alveolar:	n/a
4	chr15:72766486-72766536	HRCEpiC	kidney:	n/a
5	chr15:72766497-72766547	AG04450	lung:	fetal
6	chr15:72766497-72766547	HCF	heart:	n/a
7	chr15:72766486-72766536	NHBE	bronchial:	n/a
8	chr15:72766486-72766536	GM12891	blood:	n/a
9	chr15:72766470-72766520	Hela-S3	cervix:	n/a
10	chr15:72766486-72766536	HepG2	liver:	n/a
11	chr15:72766470-72766520	GM12878	blood:	n/a
12	chr15:72766486-72766536	HL-60	blood:	n/a
13	chr15:72766497-72766547	HEK293	kidney:	embryo
14	chr15:72766486-72766536	CMK	blood:	n/a
15	chr15:72766470-72766520	GM19239	blood:	n/a
16	chr15:72766470-72766520	T-47D	breast:	n/a
17	chr15:72766470-72766520	AG09319	gingival:	n/a
18	chr15:72766470-72766520	HPAEpiC	pulmonary alveolar:	n/a
19	chr15:72766486-72766536	NT2-D1	testis:	n/a
20	chr15:72766470-72766520	HCPEpiC	choroid plexus:	n/a
21	chr15:72766486-72766536	T-47D	breast:	n/a
22	chr15:72766497-72766547	ProgFib	skin:	n/a
23	chr15:72766470-72766520	AG04449	skin:	fetal
24	chr15:72766470-72766520	HCT-116	colon:	n/a
25	chr15:72766497-72766547	AG09319	gingival:	n/a
26	chr15:72766497-72766547	HCPEpiC	choroid plexus:	n/a
27	chr15:72766486-72766536	H1-hESC	embryonic stem cell:	embryo
28	chr15:72766486-72766536	NB4	blood:	n/a
29	chr15:72766497-72766547	AoSMC	blood vessel:	n/a
30	chr15:72766470-72766520	GM12891	blood:	n/a
31	chr15:72766497-72766547	NH-A	brain:	n/a
32	chr15:72766497-72766547	ECC-1	luminal epithelium:	n/a
33	chr15:72766486-72766536	HPAEpiC	pulmonary alveolar:	n/a
34	chr15:72766497-72766547	NT2-D1	testis:	n/a
35	chr15:72766470-72766520	PrEC	prostate:	n/a
36	chr15:72766470-72766520	HNPCEpiC	eye:	n/a
37	chr15:72766486-72766536	ovcar-3	ovarian:	n/a
38	chr15:72766486-72766536	HEEpiC	esophagus:	n/a
39	chr15:72766470-72766520	A549	lung:	n/a
40	chr15:72766497-72766547	NHBE	bronchial:	n/a
41	chr15:72766470-72766520	HRCEpiC	kidney:	n/a
42	chr15:72766486-72766536	NHDF-neo	bronchial:	n/a
43	chr15:72766470-72766520	ECC-1	luminal epithelium:	n/a
44	chr15:72766497-72766547	Hela-S3	cervix:	n/a
45	chr15:72766470-72766520	HepG2	liver:	n/a
46	chr15:72766470-72766520	Hepatocyte	liver:	n/a
47	chr15:72766470-72766520	SK-N-SH	brain:	n/a
48	chr15:72766497-72766547	HepG2	liver:	n/a
49	chr15:72766497-72766547	HRCEpiC	kidney:	n/a
50	chr15:72766497-72766547	GM06990	blood:	n/a

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

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

(count:3 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ARIH1	TF binding region
ARIH1	CpG island
ENSG00000186432	Chromatin interaction
ENSG00000140463	Chromatin interaction
ENSG00000175202	Chromatin interaction
ENSG00000175318	Chromatin interaction
ENSG00000155111	Chromatin interaction
ENSG00000063322	Chromatin interaction
ENSG00000083544	Chromatin interaction
ENSG00000252974	Chromatin interaction
ENSG00000166912	Chromatin interaction
ENSG00000140488	Chromatin interaction
ENSG00000100221	Chromatin interaction
ENSG00000108061	Chromatin interaction
ENSG00000115806	Chromatin interaction
ENSG00000112695	Chromatin interaction
ENSG00000260729	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000139116	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000130714	Chromatin interaction
ENSG00000109572	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000006712	Chromatin interaction
ENSG00000229320	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000273025	Chromatin interaction
ENSG00000196408	Chromatin interaction
ENSG00000177853	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000207690	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000067141	Chromatin interaction
ENSG00000173559	Chromatin interaction
ENSG00000213614	Chromatin interaction
ENSG00000160439	Chromatin interaction
ENSG00000214413	Chromatin interaction
ENSG00000070756	Chromatin interaction
ENSG00000260339	Chromatin interaction
ENSG00000243007	Chromatin interaction
ENSG00000261187	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
3	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv469704	chr15:72669374-72853927	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv482685	chr15:72669374-72853927	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
6	nsv1050558	chr15:72739150-72860350	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
7	nsv542427	chr15:72739150-72860350	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
8	nsv827384	chr15:72765222-72768609	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	esv3341795	chr15:72766123-72768671	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72765400-72768600	Active TSS	H1 Cell Line	embryonic stem cell
2	chr15:72765400-72768800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:72765400-72769000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr15:72765400-72769200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr15:72765600-72768200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:72765600-72768200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:72765600-72768200	Active TSS	Left Ventricle	heart
8	chr15:72765600-72768400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr15:72765600-72768400	Active TSS	Aorta	Aorta
10	chr15:72765600-72768400	Active TSS	Fetal Muscle Trunk	muscle
11	chr15:72765600-72768600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:72765600-72769200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:72765600-72769200	Active TSS	Right Ventricle	heart
14	chr15:72765800-72766600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr15:72765800-72766600	Flanking Active TSS	Placenta	Placenta
16	chr15:72765800-72767800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:72765800-72767800	Active TSS	Liver	Liver
18	chr15:72765800-72767800	Active TSS	Brain Angular Gyrus	brain
19	chr15:72765800-72767800	Active TSS	Brain Cingulate Gyrus	brain
20	chr15:72765800-72767800	Active TSS	Colonic Mucosa	Colon
21	chr15:72765800-72767800	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr15:72765800-72768000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:72765800-72768000	Active TSS	Brain Hippocampus Middle	brain
24	chr15:72765800-72768000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr15:72765800-72768000	Active TSS	Fetal Lung	lung
26	chr15:72765800-72768000	Active TSS	Fetal Stomach	stomach
27	chr15:72765800-72768000	Active TSS	Rectal Smooth Muscle	rectum
28	chr15:72765800-72768000	Active TSS	Spleen	Spleen
29	chr15:72765800-72768200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:72765800-72768200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:72765800-72768200	Active TSS	Brain Germinal Matrix	brain
32	chr15:72765800-72768200	Active TSS	Colon Smooth Muscle	Colon
33	chr15:72765800-72768200	Active TSS	Lung	lung
34	chr15:72765800-72768200	Active TSS	Pancreas	Pancrea
35	chr15:72765800-72768200	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr15:72765800-72768400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr15:72765800-72768400	Bivalent/Poised TSS	HepG2	liver
38	chr15:72765800-72768600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:72765800-72768600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:72765800-72768600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:72765800-72768600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:72765800-72768600	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr15:72765800-72768600	Active TSS	K562	blood
44	chr15:72765800-72768800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:72765800-72768800	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr15:72765800-72768800	Active TSS	Psoas Muscle	Psoas
47	chr15:72765800-72769000	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr15:72765800-72769000	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr15:72765800-72769000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:72765800-72769000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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