Variant report

Variant	rs10091130
Chromosome Location	chr8:131373887-131373888
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131322070..131324327-chr8:131371483..131374194,2	K562	blood:
2	chr8:131370791..131374454-chr8:131375102..131378755,4	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10109236	0.94[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10505548	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10505549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10956513	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10956515	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10956517	0.80[EUR][1000 genomes]
rs10956525	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs11779014	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11781752	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11786705	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12541083	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12675390	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12676836	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12679283	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12681954	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12681955	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1417007	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1469286	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1549455	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16904212	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs16904219	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs16904231	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs16904239	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16904241	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs16904242	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16904249	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1974313	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2027377	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34721076	0.87[EUR][1000 genomes]
rs4733573	0.94[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes]
rs4733782	0.92[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4733783	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4733788	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57198371	0.80[EUR][1000 genomes]
rs62517707	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62524647	0.81[AFR][1000 genomes]
rs62525922	0.81[EUR][1000 genomes]
rs62525927	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62525928	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6415511	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6415513	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6415514	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6415517	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6470813	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6470814	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6991714	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6996469	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6999216	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72724433	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs754021	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9297806	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1799913	chr8:131370231-131377219	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv1803345	chr8:131370231-131377219	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv612290	chr8:131370231-131381098	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371400-131374000	Weak transcription	Small Intestine	intestine
2	chr8:131371400-131374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:131371400-131376000	Weak transcription	HMEC	breast
4	chr8:131371400-131376400	Weak transcription	Hela-S3	cervix
5	chr8:131371400-131376600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:131371400-131376800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:131371400-131382000	Weak transcription	Lung	lung
8	chr8:131371400-131391400	Weak transcription	Spleen	Spleen
9	chr8:131371600-131374000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:131371600-131374000	Weak transcription	Pancreas	Pancrea
11	chr8:131371600-131374200	Enhancers	Fetal Thymus	thymus
12	chr8:131371600-131374200	Weak transcription	HSMMtube	muscle
13	chr8:131371600-131378600	Weak transcription	Psoas Muscle	Psoas
14	chr8:131371600-131383800	Weak transcription	Ovary	ovary
15	chr8:131371600-131386800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:131371600-131389800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
18	chr8:131371800-131374000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:131371800-131374000	Weak transcription	Left Ventricle	heart
20	chr8:131371800-131374200	Weak transcription	Brain Anterior Caudate	brain
21	chr8:131371800-131374400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:131371800-131374600	Enhancers	GM12878-XiMat	blood
23	chr8:131371800-131374800	Strong transcription	A549	lung
24	chr8:131371800-131376000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:131371800-131376600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:131371800-131376600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:131371800-131376600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:131371800-131376600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:131371800-131376600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:131371800-131376600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:131371800-131376800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:131371800-131376800	Weak transcription	Adipose Nuclei	Adipose
33	chr8:131371800-131376800	Weak transcription	Fetal Intestine Large	intestine
34	chr8:131371800-131377200	Weak transcription	Primary B cells from cord blood	blood
35	chr8:131371800-131382800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:131371800-131384400	Weak transcription	Brain Germinal Matrix	brain
37	chr8:131371800-131389800	Weak transcription	Fetal Stomach	stomach
38	chr8:131371800-131390800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:131371800-131396400	Weak transcription	HepG2	liver
40	chr8:131371800-131398400	Weak transcription	Fetal Lung	lung
41	chr8:131372000-131374200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:131372000-131376000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr8:131372000-131376600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr8:131372000-131376800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:131372200-131374600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:131372200-131374600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:131372200-131374600	Strong transcription	HUVEC	blood vessel
48	chr8:131372400-131376800	Weak transcription	Thymus	Thymus
49	chr8:131372600-131374000	Strong transcription	HSMM	muscle
50	chr8:131372600-131374600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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