Variant report

Variant	rs11101137
Chromosome Location	chr10:50665031-50665032
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	chr10:50664489..50667007-chr10:50746262..50748316,2	MCF-7	breast:
2	chr10:50663321..50665073-chr10:50668527..50670258,2	K562	blood:

Variant related genes	Relation type
ENSG00000258838	Chromatin interaction
ENSG00000225830	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1012553	0.82[CHB][hapmap]
rs10857494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10857495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10857496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857498	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10857500	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11101133	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11101152	0.83[ASN][1000 genomes]
rs11527805	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11594945	0.81[CHB][hapmap]
rs12218602	0.81[CHB][hapmap]
rs12219170	0.83[ASN][1000 genomes]
rs12219670	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12220085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12221460	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12244804	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12413113	0.81[CHB][hapmap]
rs17177717	0.95[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap]
rs1917799	0.81[CHB][hapmap]
rs2222638	0.81[CHB][hapmap]
rs2228528	0.86[CHB][hapmap];0.83[MEX][hapmap]
rs2281794	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28454254	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3750749	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3793786	0.82[CHB][hapmap]
rs3793788	0.86[CHB][hapmap]
rs3810945	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253004	0.83[ASN][1000 genomes]
rs4253005	0.86[ASW][hapmap];0.81[TSI][hapmap];0.81[YRI][hapmap]
rs4253013	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4253040	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4253043	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4253060	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4253082	0.86[CHB][hapmap]
rs4253095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4253138	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4253145	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4253215	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253226	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61143747	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7080607	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7086144	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73297748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305562	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7909342	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv895377	chr10:50588990-50678212	ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer 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	17 gene(s)	inside rSNPs	diseases
5	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50638400-50665800	Weak transcription	Gastric	stomach
2	chr10:50649600-50665600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr10:50656600-50672600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:50660000-50666800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr10:50660400-50672400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:50662000-50669800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:50662200-50669600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr10:50662200-50669600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:50662200-50669600	Strong transcription	Left Ventricle	heart
10	chr10:50662200-50669800	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr10:50662200-50677800	Weak transcription	Fetal Heart	heart
12	chr10:50662200-50691600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:50662400-50665600	Weak transcription	Esophagus	oesophagus
14	chr10:50662400-50666000	Strong transcription	Hela-S3	cervix
15	chr10:50662400-50667000	Weak transcription	Psoas Muscle	Psoas
16	chr10:50662400-50690000	Weak transcription	Stomach Mucosa	stomach
17	chr10:50662400-50693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:50662600-50665400	Weak transcription	Fetal Brain Male	brain
19	chr10:50662600-50665400	Weak transcription	Fetal Intestine Small	intestine
20	chr10:50662600-50665400	Weak transcription	Fetal Stomach	stomach
21	chr10:50662600-50665400	Weak transcription	HSMMtube	muscle
22	chr10:50662600-50665600	Weak transcription	Fetal Brain Female	brain
23	chr10:50662600-50665800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:50662600-50665800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:50662600-50666000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr10:50662600-50666600	Weak transcription	Brain Germinal Matrix	brain
27	chr10:50662600-50667000	Weak transcription	Brain Hippocampus Middle	brain
28	chr10:50662600-50669600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr10:50662600-50669600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr10:50662600-50670200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:50662600-50670400	Strong transcription	Osteobl	bone
32	chr10:50662600-50674800	Weak transcription	Colonic Mucosa	Colon
33	chr10:50662600-50676600	Weak transcription	Small Intestine	intestine
34	chr10:50662600-50677600	Weak transcription	NHDF-Ad	bronchial
35	chr10:50662600-50691400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:50662800-50665400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr10:50662800-50665600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr10:50662800-50666800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:50662800-50666800	Weak transcription	GM12878-XiMat	blood
40	chr10:50662800-50667000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr10:50662800-50667000	Weak transcription	Brain Angular Gyrus	brain
42	chr10:50662800-50667800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr10:50663000-50665400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr10:50663000-50665600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr10:50663000-50665800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:50663000-50666400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr10:50663000-50666600	Weak transcription	Primary B cells from cord blood	blood
48	chr10:50663000-50669400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr10:50663000-50669600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:50663000-50675800	Weak transcription	Colon Smooth Muscle	Colon

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