Variant report

Variant	rs2290473
Chromosome Location	chr8:99007024-99007025
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	chr8:99006609..99009034-chr8:99014356..99016713,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10090458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994638	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12375372	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12674810	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12675146	0.80[EUR][1000 genomes]
rs12675608	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12676252	0.89[JPT][hapmap]
rs12680911	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1378121	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16892217	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16896467	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16896468	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16896471	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16896476	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16896503	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16896514	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];1.00[ASN][1000 genomes]
rs16896518	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16896521	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16896531	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16896564	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16896600	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1869607	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1961270	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2010014	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2045805	1.00[AFR][1000 genomes]
rs2045807	1.00[AFR][1000 genomes]
rs2061053	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2513844	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs34354078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35407519	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4734381	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735516	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4735519	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59704264	1.00[AFR][1000 genomes]
rs60346298	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60580631	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6980810	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6988458	1.00[AFR][1000 genomes]
rs7010226	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7018411	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72677062	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72677068	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72677085	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72677098	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72678728	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72678733	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72678734	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72678737	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72678752	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72678755	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72678761	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72678762	1.00[AFR][1000 genomes]
rs7830701	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7843262	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv1801513	chr8:98996645-99009024	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98988000-99011800	Weak transcription	Aorta	Aorta
2	chr8:98992600-99019400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:98994200-99014800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:98994600-99008200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:98994600-99008400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:98994600-99014200	Weak transcription	Ovary	ovary
7	chr8:98995200-99008000	Weak transcription	Fetal Stomach	stomach
8	chr8:99002800-99008200	Weak transcription	Right Atrium	heart
9	chr8:99003000-99007200	Weak transcription	NH-A	brain
10	chr8:99003200-99007200	Weak transcription	NHEK	skin
11	chr8:99003400-99007200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:99003400-99007200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:99003400-99007600	Weak transcription	HMEC	breast
14	chr8:99003400-99008400	Weak transcription	Adipose Nuclei	Adipose
15	chr8:99003600-99007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:99003600-99013200	Weak transcription	Brain Anterior Caudate	brain
17	chr8:99004400-99007400	Enhancers	NHDF-Ad	bronchial
18	chr8:99005200-99007200	Enhancers	Fetal Lung	lung
19	chr8:99005800-99009200	Enhancers	Osteobl	bone
20	chr8:99006000-99007200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:99006000-99007200	Enhancers	A549	lung
22	chr8:99006000-99009600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:99006200-99008800	Enhancers	HSMM	muscle
24	chr8:99006400-99007200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:99006400-99007200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:99006400-99007200	Enhancers	Brain Angular Gyrus	brain
27	chr8:99006400-99007400	Enhancers	Fetal Heart	heart
28	chr8:99006400-99008800	Enhancers	Fetal Brain Male	brain
29	chr8:99006400-99010000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:99006600-99007400	Enhancers	Brain Cingulate Gyrus	brain
31	chr8:99006600-99008600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr8:99006600-99009400	Enhancers	NHLF	lung
33	chr8:99006800-99007200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:99006800-99007400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:99006800-99007600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr8:99006800-99008800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr8:99007000-99009000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:99007000-99009600	Enhancers	Fetal Muscle Leg	muscle
39	chr8:99007000-99014200	Weak transcription	Brain Hippocampus Middle	brain

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