Variant report

Variant	rs6650153
Chromosome Location	chr10:5019320-5019321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11252861	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11252862	0.89[ASN][1000 genomes]
rs11252870	0.81[ASN][1000 genomes]
rs12250633	0.89[ASN][1000 genomes]
rs12264914	1.00[CHB][hapmap]
rs12355347	0.96[ASN][1000 genomes]
rs12774134	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs1937859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35767584	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3885232	0.81[ASN][1000 genomes]
rs3890593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3890643	0.92[ASN][1000 genomes]
rs3898029	1.00[ASN][1000 genomes]
rs3923936	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4268415	1.00[CEU][hapmap];0.81[TSI][hapmap]
rs4332428	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4344395	1.00[JPT][hapmap]
rs4397735	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4445550	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs5011018	0.92[CEU][hapmap];0.96[GIH][hapmap];0.91[TSI][hapmap]
rs5011019	0.92[CEU][hapmap]
rs56136181	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601884	1.00[ASN][1000 genomes]
rs6601887	0.89[ASN][1000 genomes]
rs6601888	0.89[ASN][1000 genomes]
rs67362530	0.85[ASN][1000 genomes]
rs68057779	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7068923	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7076886	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7089378	0.92[ASN][1000 genomes]
rs71230207	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72769971	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7893456	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7906245	0.88[ASN][1000 genomes]
rs7908994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7909151	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7915365	1.00[JPT][hapmap]
rs7916500	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7916644	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7922153	1.00[CEU][hapmap];0.96[GIH][hapmap];0.91[TSI][hapmap]
rs7922874	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv894794	chr10:4972761-5121745	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv430122	chr10:4986040-5134511	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv825221	chr10:4999349-5046239	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6650153	AKR1C2	cis	parietal	SCAN
rs6650153	AKR1C2	cis	Skin Sun Exposed Lower leg	GTEx
rs6650153	AKR1C2	cis	Esophagus Muscularis	GTEx
rs6650153	AKR1C1	cis	Whole Blood	GTEx
rs6650153	AKR1C2	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4998200-5023800	Weak transcription	Gastric	stomach
2	chr10:5004800-5023800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:5005800-5027400	Weak transcription	Fetal Stomach	stomach
4	chr10:5005800-5045800	Weak transcription	HSMMtube	muscle
5	chr10:5006000-5023800	Weak transcription	Esophagus	oesophagus
6	chr10:5006000-5023800	Weak transcription	Left Ventricle	heart
7	chr10:5006000-5024000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr10:5007200-5021600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr10:5007200-5023200	Weak transcription	Fetal Intestine Large	intestine
10	chr10:5007200-5023600	Weak transcription	Fetal Intestine Small	intestine
11	chr10:5007200-5023800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr10:5007400-5023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:5007400-5023800	Weak transcription	Right Ventricle	heart
14	chr10:5007400-5024200	Weak transcription	NHEK	skin
15	chr10:5008200-5021000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr10:5008200-5044000	Weak transcription	Fetal Brain Male	brain
17	chr10:5008800-5023200	Weak transcription	Stomach Mucosa	stomach
18	chr10:5009400-5027200	Weak transcription	Spleen	Spleen
19	chr10:5009600-5023600	Weak transcription	Fetal Muscle Leg	muscle
20	chr10:5009600-5024000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:5009600-5027000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr10:5009800-5021800	Strong transcription	Liver	Liver
23	chr10:5010200-5024000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:5010800-5023800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:5011400-5023000	Weak transcription	K562	blood
26	chr10:5011600-5023800	Weak transcription	Lung	lung
27	chr10:5011600-5044200	Weak transcription	Fetal Brain Female	brain
28	chr10:5011800-5023800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr10:5011800-5024200	Weak transcription	Aorta	Aorta
30	chr10:5011800-5027000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr10:5011800-5043800	Weak transcription	Psoas Muscle	Psoas
32	chr10:5012000-5024000	Weak transcription	Osteobl	bone
33	chr10:5012000-5027000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:5012200-5023800	Weak transcription	Ovary	ovary
35	chr10:5013200-5023800	Weak transcription	Pancreas	Pancrea
36	chr10:5016000-5020600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr10:5016000-5024000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr10:5017200-5023800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr10:5018200-5019800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:5018200-5021800	Strong transcription	Adipose Nuclei	Adipose
41	chr10:5018400-5020200	Strong transcription	HepG2	liver
42	chr10:5018400-5021200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:5018600-5019400	Strong transcription	Brain Germinal Matrix	brain
44	chr10:5018600-5019600	Strong transcription	NHDF-Ad	bronchial
45	chr10:5018800-5019600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr10:5018800-5019600	Genic enhancers	A549	lung
47	chr10:5019000-5023800	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links