Variant report

Variant	rs2119461
Chromosome Location	chr8:95574634-95574635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95573335..95575279-chr8:95583967..95586245,2	MCF-7	breast:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10086307	0.96[EUR][1000 genomes]
rs10086311	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10087221	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10089982	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10090029	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10090628	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10093542	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10094155	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10094298	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10094477	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095474	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095883	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10097107	0.96[EUR][1000 genomes]
rs10098298	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10098682	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10102139	0.96[EUR][1000 genomes]
rs10103436	0.96[EUR][1000 genomes]
rs10104301	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104637	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10104756	1.00[CEU][hapmap]
rs10104797	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10105476	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10106455	0.96[EUR][1000 genomes]
rs10110389	0.96[EUR][1000 genomes]
rs10111251	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs10111789	0.84[AMR][1000 genomes]
rs10217108	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10441536	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10441537	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1055798	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334369	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334578	0.96[EUR][1000 genomes]
rs12334675	1.00[CEU][hapmap]
rs12334783	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334844	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334990	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12335104	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13438933	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13438940	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439154	0.96[EUR][1000 genomes]
rs13439558	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439676	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2381883	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28386976	0.96[EUR][1000 genomes]
rs28397924	0.96[EUR][1000 genomes]
rs28406352	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28409018	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28420254	0.96[EUR][1000 genomes]
rs28436849	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28449797	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28475734	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28480604	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28481457	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28498495	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28502182	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28524089	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28526027	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28539788	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28542193	0.96[EUR][1000 genomes]
rs28563951	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28564036	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28572173	0.96[EUR][1000 genomes]
rs28605692	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs28608052	0.96[EUR][1000 genomes]
rs28634264	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28666401	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28681034	0.96[EUR][1000 genomes]
rs28775004	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28805925	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28829590	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28848914	0.96[EUR][1000 genomes]
rs28897138	0.84[AMR][1000 genomes]
rs3136421	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4567002	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56859277	0.96[EUR][1000 genomes]
rs57897120	0.96[EUR][1000 genomes]
rs6992902	0.96[EUR][1000 genomes]
rs6998829	0.96[EUR][1000 genomes]
rs73695616	0.96[EUR][1000 genomes]
rs73695617	0.96[EUR][1000 genomes]
rs73695619	0.96[EUR][1000 genomes]
rs73695620	0.96[EUR][1000 genomes]
rs73695622	0.96[EUR][1000 genomes]
rs73695624	0.96[EUR][1000 genomes]
rs73698013	0.96[EUR][1000 genomes]
rs7835534	1.00[GIH][hapmap]
rs8117	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9297938	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv611750	chr8:95519205-95574634	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1033318	chr8:95556054-95576338	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1032065	chr8:95556054-95578349	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1016339	chr8:95556054-95585807	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1021702	chr8:95556054-95589194	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1029802	chr8:95556959-95578349	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv3584580	chr8:95557287-95576350	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv429929	chr8:95564533-95676894	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv971684	chr8:95566071-95577827	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95566800-95575200	Weak transcription	Small Intestine	intestine
2	chr8:95566800-95576000	Weak transcription	Fetal Heart	heart
3	chr8:95567000-95575000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:95567000-95575200	Weak transcription	Brain Anterior Caudate	brain
5	chr8:95567000-95575200	Weak transcription	Fetal Brain Female	brain
6	chr8:95567000-95575200	Weak transcription	Pancreas	Pancrea
7	chr8:95567000-95575200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:95567000-95575400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:95567000-95575400	Weak transcription	Placenta	Placenta
10	chr8:95567000-95575800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:95567000-95576200	Weak transcription	Brain Angular Gyrus	brain
12	chr8:95567000-95576600	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:95567000-95576600	Weak transcription	Fetal Intestine Large	intestine
14	chr8:95567000-95576800	Weak transcription	Lung	lung
15	chr8:95567000-95577000	Weak transcription	Fetal Thymus	thymus
16	chr8:95567000-95577200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:95567000-95577400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:95567000-95577800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:95567000-95578800	Weak transcription	Fetal Lung	lung
20	chr8:95567000-95579200	Weak transcription	Aorta	Aorta
21	chr8:95567000-95579200	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:95567000-95579600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:95567000-95580600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:95567000-95583000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:95567000-95584000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:95567200-95574800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:95567200-95575000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:95567200-95575000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:95567200-95575400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:95567200-95576800	Weak transcription	NH-A	brain
31	chr8:95567400-95575600	Weak transcription	Primary B cells from cord blood	blood
32	chr8:95569200-95574800	Weak transcription	HepG2	liver
33	chr8:95570000-95574800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:95570000-95575200	Weak transcription	Osteobl	bone
35	chr8:95570000-95584400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:95570200-95579400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:95570200-95582400	Weak transcription	Brain Substantia Nigra	brain
38	chr8:95570400-95576000	Weak transcription	Right Ventricle	heart
39	chr8:95570400-95579000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:95570400-95579200	Weak transcription	Ovary	ovary
41	chr8:95570400-95579600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:95570400-95582400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:95572200-95579600	Weak transcription	GM12878-XiMat	blood
44	chr8:95573000-95575600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:95573000-95576000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:95573000-95576000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr8:95573200-95575000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr8:95573200-95575400	Strong transcription	Liver	Liver
49	chr8:95573400-95575000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:95573400-95575600	Strong transcription	Left Ventricle	heart

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