Variant report

Variant	rs3103730
Chromosome Location	chr8:100344845-100344846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100340207..100341801-chr8:100343989..100346691,2	MCF-7	breast:
2	chr8:100343791..100346575-chr8:100348119..100349870,2	MCF-7	breast:

Extended variants
information (count: 150 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10088152	0.88[ASN][1000 genomes]
rs10091793	0.86[ASN][1000 genomes]
rs10096925	0.83[ASN][1000 genomes]
rs10098153	0.80[ASN][1000 genomes]
rs10104264	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10104826	0.86[ASN][1000 genomes]
rs10216478	0.94[ASN][1000 genomes]
rs10808363	0.84[ASN][1000 genomes]
rs10808364	0.88[ASN][1000 genomes]
rs10955202	0.81[ASN][1000 genomes]
rs10955213	1.00[JPT][hapmap]
rs10955214	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10955215	0.82[GIH][hapmap];1.00[JPT][hapmap]
rs11778520	0.86[ASN][1000 genomes]
rs11988987	0.84[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs12542214	1.00[JPT][hapmap]
rs12549477	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12550128	0.85[ASN][1000 genomes]
rs12676915	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12680054	0.85[ASN][1000 genomes]
rs13256012	0.85[ASN][1000 genomes]
rs13277925	0.87[ASN][1000 genomes]
rs1388657	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs1487022	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs1545959	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs1565581	0.82[GIH][hapmap];1.00[JPT][hapmap]
rs16897430	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs16897435	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs2291548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28886569	0.87[ASN][1000 genomes]
rs3103696	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3103697	1.00[JPT][hapmap]
rs3103698	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs3103702	1.00[JPT][hapmap]
rs3103707	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3103710	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3103711	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3103712	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3103718	0.82[GIH][hapmap];1.00[JPT][hapmap]
rs3103721	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3103722	1.00[JPT][hapmap]
rs3103727	0.94[ASN][1000 genomes]
rs3103731	0.80[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs3103732	0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3105178	1.00[JPT][hapmap]
rs3110396	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3110397	0.82[GIH][hapmap];1.00[JPT][hapmap]
rs3110399	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3110400	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3110401	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3110404	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3110405	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3134143	0.94[ASN][1000 genomes]
rs3134144	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3134151	1.00[JPT][hapmap]
rs3134153	0.82[GIH][hapmap];1.00[JPT][hapmap]
rs3134159	1.00[JPT][hapmap]
rs3134171	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap]
rs3134177	1.00[JPT][hapmap]
rs3134178	1.00[JPT][hapmap]
rs3134301	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3134305	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3134306	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3134308	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3134309	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34211616	0.85[ASN][1000 genomes]
rs4133425	0.89[ASN][1000 genomes]
rs4307310	0.85[ASN][1000 genomes]
rs4317539	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4319053	0.83[ASN][1000 genomes]
rs4428646	0.87[ASN][1000 genomes]
rs4446702	0.94[ASN][1000 genomes]
rs4455798	0.87[ASN][1000 genomes]
rs4481561	0.89[ASN][1000 genomes]
rs4493885	0.94[ASN][1000 genomes]
rs4552872	0.86[ASN][1000 genomes]
rs4734426	0.84[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs4735603	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4735604	0.83[ASN][1000 genomes]
rs4735607	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs55837765	0.85[ASN][1000 genomes]
rs55871624	0.85[ASN][1000 genomes]
rs6415433	0.85[ASN][1000 genomes]
rs6468663	0.81[ASN][1000 genomes]
rs6468665	0.81[ASN][1000 genomes]
rs6468669	0.85[ASN][1000 genomes]
rs6468671	0.86[ASN][1000 genomes]
rs6468675	0.84[ASN][1000 genomes]
rs6468676	0.91[JPT][hapmap]
rs6468681	1.00[ASN][1000 genomes]
rs6468690	0.81[GIH][hapmap];1.00[JPT][hapmap]
rs6468691	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6986467	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs6986710	0.93[ASN][1000 genomes]
rs6989201	0.81[ASN][1000 genomes]
rs6990637	1.00[JPT][hapmap]
rs6990741	0.87[ASN][1000 genomes]
rs6991283	0.82[ASN][1000 genomes]
rs6991585	0.86[ASN][1000 genomes]
rs6997225	0.81[ASN][1000 genomes]
rs7001154	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7002106	0.96[ASN][1000 genomes]
rs7002148	0.96[ASN][1000 genomes]
rs7011648	0.85[ASN][1000 genomes]
rs7011936	0.89[ASN][1000 genomes]
rs7016044	0.83[ASN][1000 genomes]
rs7016304	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7017261	0.86[ASN][1000 genomes]
rs716454	1.00[JPT][hapmap]
rs72670294	0.86[ASN][1000 genomes]
rs72670297	0.85[ASN][1000 genomes]
rs72670301	0.85[ASN][1000 genomes]
rs72672309	0.85[ASN][1000 genomes]
rs72672313	0.85[ASN][1000 genomes]
rs7460376	0.81[ASN][1000 genomes]
rs7461275	0.81[ASN][1000 genomes]
rs7462457	0.81[ASN][1000 genomes]
rs7815414	0.89[ASN][1000 genomes]
rs7818051	0.85[ASN][1000 genomes]
rs7835084	0.81[ASN][1000 genomes]
rs7836899	0.85[ASN][1000 genomes]
rs7839332	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7840337	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7842393	0.85[ASN][1000 genomes]
rs9297289	0.85[ASN][1000 genomes]
rs9642958	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv821659	chr8:100147641-100369829	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
10	nsv1031524	chr8:100204139-100399935	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv933080	chr8:100204936-100417432	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv611812	chr8:100232372-100464671	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1027031	chr8:100250184-100442195	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv539696	chr8:100250184-100442195	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv933677	chr8:100254133-100455039	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv831407	chr8:100284406-100448725	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv1031100	chr8:100290887-100508952	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv539697	chr8:100290887-100508952	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv529685	chr8:100290888-100463947	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
21	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
22	nsv1019168	chr8:100324341-100361194	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
24	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100326400-100354600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:100327000-100361800	Weak transcription	Aorta	Aorta
3	chr8:100333400-100345000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:100333600-100347600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:100334600-100352800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:100335800-100345600	Weak transcription	Primary B cells from cord blood	blood
7	chr8:100339800-100350000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:100339800-100351600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr8:100340800-100345800	Weak transcription	Primary T cells from cord blood	blood
10	chr8:100340800-100351600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr8:100343400-100345000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:100343800-100346400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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