Variant report

Variant	rs4588817
Chromosome Location	chr8:102621670-102621671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102481107..102483505-chr8:102620149..102622971,2	MCF-7	breast:
2	chr8:102620271..102621973-chr8:102646232..102648776,2	MCF-7	breast:
3	chr8:102618309..102622005-chr8:102635683..102639742,4	MCF-7	breast:
4	chr8:102329492..102331583-chr8:102621198..102623417,2	MCF-7	breast:
5	chr8:102588119..102597900-chr8:102614552..102624670,18	MCF-7	breast:
6	chr8:102619702..102621730-chr8:103818248..103820356,2	MCF-7	breast:
7	chr8:102525449..102527790-chr8:102621194..102623795,2	MCF-7	breast:
8	chr8:102619314..102627249-chr8:102640943..102646440,7	MCF-7	breast:
9	chr8:102524405..102527812-chr8:102618321..102621883,4	MCF-7	breast:
10	chr8:102619068..102621889-chr8:103209199..103211504,2	MCF-7	breast:
11	chr8:102620661..102623620-chr8:102631815..102633375,2	MCF-7	breast:
12	chr8:102368939..102370495-chr8:102621232..102623192,2	MCF-7	breast:
13	chr8:102497120..102519676-chr8:102608888..102627613,87	MCF-7	breast:
14	chr8:102618937..102621907-chr8:102637698..102639886,2	MCF-7	breast:
15	chr8:102503101..102510814-chr8:102611042..102623761,44	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000083307	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10095196	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10095480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955259	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10955260	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10955261	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11783504	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12541858	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12544314	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12678441	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12678894	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1404949	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1573279	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1573280	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1573281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1573282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1573283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16867971	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs2030783	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2030784	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2030785	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2030786	0.87[CEU][hapmap]
rs2211918	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2507794	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2507795	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35890104	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4002334	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4236766	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4305864	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4392865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4593516	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4734027	0.88[CEU][hapmap]
rs4734028	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734544	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4734545	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4734546	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4734548	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4734549	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4734550	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4734551	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4734553	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4734557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4734558	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4734559	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4734560	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5023181	0.92[EUR][1000 genomes]
rs503895	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs567029	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs579505	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6468780	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6468781	0.95[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6468782	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7462010	1.00[CEU][hapmap]
rs7819613	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7820410	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7820809	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7821380	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7823289	0.88[CEU][hapmap]
rs7824065	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7835187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7835323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7836018	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7836164	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7838863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7838983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7845751	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9642972	0.83[CEU][hapmap]
rs9649995	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757285	chr8:102609474-102649681	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2759635	chr8:102609474-102649681	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2761235	chr8:102613079-102646059	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2764126	chr8:102618059-102625712	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv13338	chr8:102619280-102626751	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3511009	chr8:102619876-102627874	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv8370	chr8:102620173-102626866	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3511013	chr8:102620226-102627824	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3511012	chr8:102620518-102627190	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv1798037	chr8:102620606-102625712	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv1830889	chr8:102620606-102625712	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv1839854	chr8:102620606-102625712	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv442525	chr8:102620606-102625712	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv2421697	chr8:102620606-102627912	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	esv3479694	chr8:102620795-102626911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv3511010	chr8:102620829-102626906	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv3511007	chr8:102620832-102626906	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv3479692	chr8:102620846-102626883	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv3511006	chr8:102620851-102626838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	esv3479693	chr8:102620860-102626848	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	esv3479691	chr8:102620864-102626835	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	esv3511011	chr8:102620882-102626845	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	esv3479695	chr8:102620947-102626792	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	esv3511014	chr8:102620947-102626792	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
25	nsv515051	chr8:102621032-102625520	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102590600-102631600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr8:102590600-102635200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:102612800-102623000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:102615200-102623000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:102616200-102623600	Weak transcription	Right Atrium	heart
6	chr8:102616800-102643800	Weak transcription	Gastric	stomach
7	chr8:102617400-102625800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:102618000-102640800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:102618800-102622600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:102619000-102622400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:102619200-102631800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:102619600-102622800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:102619600-102623200	Weak transcription	Placenta	Placenta
14	chr8:102619600-102631800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:102619800-102656200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:102620000-102625000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:102620200-102627400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:102620600-102625800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:102620800-102622200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:102620800-102623400	Weak transcription	HMEC	breast
21	chr8:102620800-102637800	Weak transcription	HUVEC	blood vessel
22	chr8:102621200-102622400	Enhancers	A549	lung
23	chr8:102621200-102624800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:102621200-102625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:102621200-102635800	Weak transcription	Pancreas	Pancrea
26	chr8:102621400-102623000	Weak transcription	Hela-S3	cervix
27	chr8:102621400-102623600	Weak transcription	Fetal Intestine Small	intestine
28	chr8:102621400-102626800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:102621400-102627000	Weak transcription	Fetal Intestine Large	intestine
30	chr8:102621600-102623000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:102621600-102623200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:102621600-102623400	Weak transcription	NHEK	skin
33	chr8:102621600-102623600	Weak transcription	Esophagus	oesophagus
34	chr8:102621600-102626800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:102621600-102627000	Weak transcription	Stomach Mucosa	stomach
36	chr8:102621600-102627200	Weak transcription	Rectal Mucosa Donor 31	rectum

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