Variant report

Variant	rs4777506
Chromosome Location	chr15:72669880-72669881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72669787-72669883	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72667344..72672450-chr15:72764755..72768100,8	K562	blood:
2	chr15:72612273..72613953-chr15:72667924..72670021,2	K562	blood:
3	chr15:72521644..72524080-chr15:72668948..72670929,2	MCF-7	breast:
4	chr15:72669000..72671381-chr15:72700452..72702096,2	MCF-7	breast:
5	chr15:72666558..72670735-chr15:72765041..72769475,12	MCF-7	breast:
6	chr15:72667335..72670021-chr15:72670916..72672752,3	MCF-7	breast:
7	chr15:72669180..72672003-chr15:72765406..72767515,3	K562	blood:
8	chr15:72668155..72670512-chr20:49346499..49348280,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260729	TF binding region
HEXA	TF binding region
ENSG00000261423	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000140488	Chromatin interaction
ENSG00000243007	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000273025	Chromatin interaction
ENSG00000124171	Chromatin interaction

Extended variants
information (count: 44 )
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	0.88[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	0.80[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];0.83[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]
rs4777505	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	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777508	0.89[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:7 , 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
6	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
7	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72669000-72670000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:72669000-72673600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:72669200-72670000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr15:72669200-72670000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:72669200-72670000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:72669200-72670000	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr15:72669200-72670200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr15:72669200-72670200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr15:72669200-72670400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:72669200-72670400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr15:72669200-72670600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr15:72669200-72670600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:72669200-72672000	Weak transcription	HUVEC	blood vessel
14	chr15:72669200-72672600	Weak transcription	Right Atrium	heart
15	chr15:72669400-72670000	Enhancers	Adipose Nuclei	Adipose
16	chr15:72669400-72670200	Enhancers	Primary B cells from cord blood	blood
17	chr15:72669400-72670200	Enhancers	Primary T cells from cord blood	blood
18	chr15:72669400-72670200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr15:72669400-72670200	Enhancers	Duodenum Mucosa	Duodenum
20	chr15:72669400-72670200	Enhancers	Fetal Intestine Large	intestine
21	chr15:72669400-72670200	Enhancers	Fetal Intestine Small	intestine
22	chr15:72669400-72670400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr15:72669400-72670600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr15:72669400-72670600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr15:72669600-72670000	Enhancers	Small Intestine	intestine
26	chr15:72669600-72670200	Enhancers	HepG2	liver
27	chr15:72669800-72670000	Active TSS	Fetal Kidney	kidney
28	chr15:72669800-72670400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr15:72669800-72672600	Weak transcription	Rectal Mucosa Donor 29	rectum

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