Variant report

Variant	rs4777505
Chromosome Location	chr15:72668539-72668540
allele	C/T
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	POLR2A	chr15:72667887-72668855	U87	brain:	n/a	n/a
2	BCL3	chr15:72667758-72668901	A549	lung:	n/a	chr15:72668836-72668845 chr15:72668458-72668467 chr15:72668455-72668464
3	MYC	chr15:72667899-72668876	K562	blood:	n/a	chr15:72668396-72668407 chr15:72668396-72668405 chr15:72668346-72668355 chr15:72668395-72668408 chr15:72668395-72668408 chr15:72668397-72668406 chr15:72668345-72668356 chr15:72668397-72668406 chr15:72668395-72668408
4	TAF1	chr15:72667934-72669104	MCF-7	breast:	n/a	n/a
5	CTCF	chr15:72668521-72668563	Spleen_OC	spleen:	n/a	n/a
6	CEBPB	chr15:72667989-72668871	Hela-S3	cervix:	n/a	n/a
7	MXI1	chr15:72668086-72668847	H1-hESC	embryonic stem cell:	n/a	chr15:72668398-72668407
8	MAZ	chr15:72667913-72668782	K562	blood:	n/a	chr15:72668396-72668407 chr15:72668396-72668405 chr15:72668346-72668355 chr15:72668395-72668408 chr15:72668395-72668408 chr15:72668397-72668406 chr15:72668345-72668356 chr15:72668397-72668406 chr15:72668395-72668408
9	ATF3	chr15:72667915-72668672	K562	blood:	n/a	chr15:72668397-72668417 chr15:72668335-72668355 chr15:72668397-72668406
10	EP300	chr15:72668224-72668595	H1-hESC	embryonic stem cell:	n/a	chr15:72668459-72668466 chr15:72668567-72668583 chr15:72668455-72668469 chr15:72668372-72668381
11	FOSL2	chr15:72667917-72668767	A549	lung:	n/a	n/a
12	HCFC1	chr15:72667984-72668782	K562	blood:	n/a	n/a
13	POLR2A	chr15:72667908-72668682	HepG2	liver:	n/a	n/a
14	CCNT2	chr15:72667860-72668903	K562	blood:	n/a	n/a
15	POLR2A	chr15:72667998-72668801	Gliobla	brain:	n/a	n/a
16	POLR2A	chr15:72667867-72669293	GM18505	blood:	n/a	n/a
17	BHLHE40	chr15:72668039-72669016	GM12878	blood:	n/a	chr15:72668397-72668406 chr15:72668398-72668407 chr15:72668397-72668406 chr15:72668391-72668412 chr15:72668395-72668408
18	ZBTB7A	chr15:72668159-72668603	K562	blood:	n/a	n/a
19	MAFK	chr15:72668191-72668841	K562	blood:	n/a	n/a
20	TRIM28	chr15:72667996-72668819	K562	blood:	n/a	n/a
21	GTF2F1	chr15:72668090-72668837	H1-hESC	embryonic stem cell:	n/a	n/a
22	FOS	chr15:72668148-72668599	K562	blood:	n/a	n/a
23	SMARCB1	chr15:72667842-72668795	Hela-S3	cervix:	n/a	n/a
24	EP300	chr15:72668191-72668955	GM12878	blood:	n/a	chr15:72668459-72668466 chr15:72668837-72668844 chr15:72668567-72668583 chr15:72668455-72668469 chr15:72668372-72668381
25	GABPA	chr15:72667971-72668576	HepG2	liver:	n/a	chr15:72668416-72668430
26	TAF1	chr15:72668233-72668678	SK-N-SH	brain:	n/a	n/a
27	ATF3	chr15:72668111-72668647	HepG2	liver:	n/a	chr15:72668397-72668417 chr15:72668335-72668355 chr15:72668397-72668406
28	YY1	chr15:72667946-72668753	HepG2	liver:	n/a	chr15:72668572-72668583
29	POLR2A	chr15:72667903-72668778	GM12878	blood:	n/a	n/a
30	POLR2A	chr15:72668090-72668668	HepG2	liver:	n/a	n/a
31	RELA	chr15:72668085-72669003	GM18951	blood:	n/a	n/a
32	SP1	chr15:72668056-72668616	H1-hESC	embryonic stem cell:	n/a	n/a
33	USF2	chr15:72668012-72668800	K562	blood:	n/a	chr15:72668397-72668406 chr15:72668361-72668372 chr15:72668398-72668407 chr15:72668397-72668406 chr15:72668344-72668355 chr15:72668391-72668412 chr15:72668396-72668407 chr15:72668395-72668408
34	ETS1	chr15:72667840-72668822	A549	lung:	n/a	chr15:72668458-72668467 chr15:72668455-72668470 chr15:72668458-72668467 chr15:72668458-72668467 chr15:72668457-72668470 chr15:72668458-72668467 chr15:72668458-72668467 chr15:72667932-72667939 chr15:72667932-72667943 chr15:72668455-72668471 chr15:72668456-72668466
35	ELK1	chr15:72668197-72669021	GM12878	blood:	n/a	chr15:72668836-72668845 chr15:72668836-72668845 chr15:72668458-72668467 chr15:72668458-72668467
36	TAF1	chr15:72668091-72668719	K562	blood:	n/a	n/a
37	MAX	chr15:72668047-72668687	HUVEC	blood vessel:	n/a	chr15:72668396-72668407 chr15:72668396-72668405 chr15:72668346-72668355 chr15:72668395-72668408 chr15:72668395-72668408 chr15:72668397-72668406 chr15:72668345-72668356 chr15:72668397-72668406 chr15:72668395-72668408
38	FOS	chr15:72668151-72668593	GM12878	blood:	n/a	n/a
39	YY1	chr15:72668115-72668658	SK-N-SH_RA	brain:	n/a	chr15:72668572-72668583
40	CREB1	chr15:72667850-72668836	HepG2	liver:	n/a	n/a
41	TCF7L2	chr15:72668006-72668577	PANC-1	pancreas:	n/a	n/a
42	YY1	chr15:72668185-72668543	GM12892	blood:	n/a	n/a
43	CREB1	chr15:72667893-72668699	A549	lung:	n/a	n/a
44	POLR2A	chr15:72667807-72668949	HL-60	blood:	n/a	n/a
45	ZNF263	chr15:72667936-72668723	HEK293-T-REx	kidney:	n/a	n/a
46	ELK4	chr15:72668281-72668690	HEK293	kidney:	n/a	chr15:72668456-72668467 chr15:72668458-72668467
47	RELA	chr15:72667883-72668729	GM19099	blood:	n/a	n/a
48	ZMIZ1	chr15:72668212-72668774	K562	blood:	n/a	n/a
49	TAF1	chr15:72668216-72668603	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr15:72668060-72668774	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72666924..72668810-chr17:56735242..56736980,2	MCF-7	breast:
2	chr15:72523860..72524413-chr15:72668313..72668819,2	Hela-S3	cervix:
3	chr15:72666408..72669827-chr15:72764535..72767754,3	MCF-7	breast:
4	chr1:24151871..24152449-chr15:72668348..72668961,2	NB4	blood:
5	chr15:72667344..72672450-chr15:72764755..72768100,8	K562	blood:
6	chr15:72612273..72613953-chr15:72667924..72670021,2	K562	blood:
7	chr15:72666558..72670735-chr15:72765041..72769475,12	MCF-7	breast:
8	chr15:72667335..72670021-chr15:72670916..72672752,3	MCF-7	breast:
9	chr15:72561194..72564093-chr15:72666798..72669351,2	MCF-7	breast:
10	chr15:72667855..72668805-chr19:3506092..3506708,2	Hela-S3	cervix:
11	chr15:72518920..72521207-chr15:72667359..72669171,2	MCF-7	breast:
12	chr15:72667773..72668619-chr7:100026009..100026883,2	NB4	blood:
13	chr15:72668155..72670512-chr20:49346499..49348280,2	MCF-7	breast:
14	chr15:72668330..72669227-chr17:59476887..59477547,2	MCF-7	breast:
15	chr14:69259233..69260141-chr15:72668206..72669170,2	Hela-S3	cervix:

Variant related genes	Relation type
HEXA	TF binding region
ENSG00000260729	TF binding region
ENSG00000202077	Chromatin interaction
ENSG00000273025	Chromatin interaction
ENSG00000243007	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000117305	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000140488	Chromatin interaction
ENSG00000105325	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000146834	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10152810	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10467945	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11072362	0.91[AFR][1000 genomes]
rs11857752	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12437909	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12439082	0.83[ASN][1000 genomes]
rs12440768	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12442850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12591626	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12593434	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12595243	1.00[CEU][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.83[ASN][1000 genomes]
rs12595339	0.83[ASN][1000 genomes]
rs12899167	0.89[ASW][hapmap];0.80[YRI][hapmap]
rs12915032	0.85[TSI][hapmap]
rs16956783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16956788	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16956884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16956890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16956893	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs16956917	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16956997	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16957050	1.00[CEU][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.83[ASN][1000 genomes]
rs17841142	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1800428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114208	0.86[YRI][hapmap];0.86[AFR][1000 genomes]
rs2303448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2303449	0.85[TSI][hapmap]
rs35778233	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3784586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4556749	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4777504	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4777506	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777507	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777508	0.93[AFR][1000 genomes]
rs7167521	0.83[ASN][1000 genomes]
rs7174287	1.00[EUR][1000 genomes]
rs963375	0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv521971	chr15:72666424-72678738	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	23 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	chr15:72666200-72669000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:72666400-72668600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:72666400-72669000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:72666600-72669000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:72666600-72669000	Active TSS	Fetal Intestine Small	intestine
6	chr15:72666600-72669200	Active TSS	Fetal Intestine Large	intestine
7	chr15:72666600-72669400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:72666800-72669400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:72667000-72668800	Active TSS	Colonic Mucosa	Colon
10	chr15:72667000-72669000	Active TSS	NHDF-Ad	bronchial
11	chr15:72667000-72669200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr15:72667000-72669400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr15:72667000-72669400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:72667000-72669400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr15:72667000-72669400	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr15:72667200-72668800	Active TSS	Fetal Brain Female	brain
17	chr15:72667200-72669000	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr15:72667200-72669000	Active TSS	HSMM	muscle
19	chr15:72667200-72669200	Active TSS	H1 Cell Line	embryonic stem cell
20	chr15:72667200-72669200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr15:72667200-72669200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr15:72667200-72669200	Active TSS	HSMMtube	muscle
23	chr15:72667200-72669400	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr15:72667400-72668800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:72667400-72668800	Active TSS	Brain Anterior Caudate	brain
26	chr15:72667400-72668800	Active TSS	Brain Cingulate Gyrus	brain
27	chr15:72667400-72668800	Active TSS	Fetal Kidney	kidney
28	chr15:72667400-72668800	Active TSS	K562	blood
29	chr15:72667400-72668800	Active TSS	NHLF	lung
30	chr15:72667400-72669000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr15:72667400-72669000	Active TSS	Left Ventricle	heart
32	chr15:72667400-72669000	Active TSS	Lung	lung
33	chr15:72667400-72669000	Active TSS	Small Intestine	intestine
34	chr15:72667400-72669000	Active TSS	A549	lung
35	chr15:72667400-72669200	Active TSS	Rectal Smooth Muscle	rectum
36	chr15:72667400-72669200	Active TSS	GM12878-XiMat	blood
37	chr15:72667400-72669400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:72667400-72669400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:72667400-72669400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr15:72667400-72669400	Active TSS	HepG2	liver
41	chr15:72667600-72668600	Active TSS	Stomach Mucosa	stomach
42	chr15:72667600-72668800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr15:72667600-72668800	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr15:72667600-72668800	Active TSS	Gastric	stomach
45	chr15:72667600-72669000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr15:72667600-72669000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:72667600-72669000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:72667600-72669000	Active TSS	Aorta	Aorta
49	chr15:72667600-72669000	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr15:72667600-72669000	Active TSS	Ovary	ovary

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