Variant report

Variant	rs1075811
Chromosome Location	chr10:49787624-49787625
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	chr10:49781506..49783468-chr10:49787135..49789633,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10491036	1.00[JPT][hapmap]
rs10491037	1.00[JPT][hapmap]
rs10491038	1.00[JPT][hapmap]
rs11593803	0.94[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs1345107	0.83[GIH][hapmap]
rs1373786	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1373792	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445167	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17010841	1.00[JPT][hapmap]
rs17010845	1.00[JPT][hapmap]
rs1814474	0.94[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs1838577	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1838578	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2120909	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2377517	0.83[GIH][hapmap]
rs2377518	0.94[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs2377519	0.94[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs2377520	0.89[EUR][1000 genomes]
rs2889659	0.94[CEU][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs3843000	0.94[CEU][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs3843001	1.00[JPT][hapmap]
rs3844200	1.00[JPT][hapmap]
rs3851549	1.00[JPT][hapmap]
rs3851551	0.89[EUR][1000 genomes]
rs4282942	1.00[JPT][hapmap]
rs4320911	1.00[JPT][hapmap]
rs4572084	0.89[EUR][1000 genomes]
rs4838424	1.00[ASN][1000 genomes]
rs4838427	1.00[JPT][hapmap]
rs4838624	1.00[ASN][1000 genomes]
rs4838625	1.00[ASN][1000 genomes]
rs4838628	1.00[JPT][hapmap]
rs4838629	1.00[JPT][hapmap]
rs56117471	1.00[ASN][1000 genomes]
rs57675373	1.00[ASN][1000 genomes]
rs57736095	1.00[ASN][1000 genomes]
rs57752920	1.00[ASN][1000 genomes]
rs58254275	1.00[ASN][1000 genomes]
rs59556761	1.00[ASN][1000 genomes]
rs60617338	1.00[ASN][1000 genomes]
rs60932029	1.00[ASN][1000 genomes]
rs7075804	0.85[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap]
rs7085095	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73300223	1.00[ASN][1000 genomes]
rs73300252	1.00[ASN][1000 genomes]
rs7909968	0.88[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7911853	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs870353	1.00[JPT][hapmap]
rs935264	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs935285	1.00[JPT][hapmap]
rs935287	1.00[JPT][hapmap]
rs935288	1.00[JPT][hapmap]
rs935291	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv550815	chr10:49774633-49794481	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv550816	chr10:49782417-49794481	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49773200-49787800	Weak transcription	Brain Angular Gyrus	brain
2	chr10:49779400-49788000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr10:49782800-49790200	Weak transcription	Aorta	Aorta
4	chr10:49783000-49788400	Enhancers	Primary B cells from cord blood	blood
5	chr10:49783200-49787800	Enhancers	Primary B cells from peripheral blood	blood
6	chr10:49783200-49787800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr10:49784000-49788000	Weak transcription	HUVEC	blood vessel
8	chr10:49786200-49787800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr10:49786200-49787800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr10:49786200-49788000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:49786200-49788200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:49786200-49788200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:49786200-49788400	Genic enhancers	NHLF	lung
14	chr10:49786200-49789000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr10:49786200-49789000	Enhancers	Colon Smooth Muscle	Colon
16	chr10:49786200-49792800	Enhancers	Brain Substantia Nigra	brain
17	chr10:49786400-49787800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr10:49786400-49788200	Genic enhancers	Osteobl	bone
19	chr10:49786600-49788200	Weak transcription	Adipose Nuclei	Adipose
20	chr10:49787000-49787800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:49787000-49788400	Enhancers	NHDF-Ad	bronchial
22	chr10:49787000-49788800	Genic enhancers	Muscle Satellite Cultured Cells	--
23	chr10:49787000-49791800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:49787200-49787800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr10:49787200-49788000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:49787200-49788600	Enhancers	HMEC	breast
27	chr10:49787400-49787800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:49787400-49787800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:49787400-49787800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:49787400-49787800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:49787400-49787800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:49787400-49787800	Enhancers	Fetal Muscle Leg	muscle
33	chr10:49787400-49787800	Enhancers	Fetal Thymus	thymus
34	chr10:49787400-49787800	Enhancers	Spleen	Spleen
35	chr10:49787400-49787800	Flanking Active TSS	HSMMtube	muscle
36	chr10:49787400-49788000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr10:49787400-49788000	Enhancers	Fetal Stomach	stomach
38	chr10:49787400-49788000	Bivalent Enhancer	NHEK	skin
39	chr10:49787400-49788200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr10:49787400-49788200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:49787400-49788200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr10:49787400-49788600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:49787400-49788600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr10:49787400-49788800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr10:49787600-49787800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr10:49787600-49787800	Enhancers	Placenta	Placenta
47	chr10:49787600-49787800	Enhancers	Gastric	stomach
48	chr10:49787600-49787800	Enhancers	Pancreas	Pancrea
49	chr10:49787600-49787800	Enhancers	Right Atrium	heart
50	chr10:49787600-49787800	Enhancers	Right Ventricle	heart

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