Variant report

Variant	rs4657856
Chromosome Location	chr1:193324405-193324406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10732293	0.82[CHB][hapmap]
rs10754052	0.81[CHB][hapmap]
rs10801183	0.82[CHB][hapmap]
rs10801184	0.82[CHB][hapmap];0.85[GIH][hapmap]
rs10801187	0.82[CHB][hapmap]
rs10801189	0.82[CHB][hapmap];0.85[GIH][hapmap]
rs10921323	0.82[CHB][hapmap]
rs10921326	0.82[CHB][hapmap];0.85[GIH][hapmap]
rs10921330	0.82[CHB][hapmap]
rs10921343	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10921344	0.95[ASN][1000 genomes]
rs11577299	0.82[CHB][hapmap];0.85[GIH][hapmap]
rs12025186	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12025393	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12032958	0.82[EUR][1000 genomes]
rs12033428	0.81[ASN][1000 genomes]
rs12034095	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12037055	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12040365	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12040832	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12041558	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12041893	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12047390	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12048579	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12125235	0.92[ASN][1000 genomes]
rs12145954	0.92[ASN][1000 genomes]
rs12410213	0.81[CHB][hapmap]
rs1325197	0.81[CHB][hapmap]
rs1339961	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1361404	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1361405	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1408830	0.82[CHB][hapmap];0.85[GIH][hapmap]
rs1536098	0.82[CHB][hapmap]
rs1536099	0.82[CHB][hapmap]
rs16835282	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16835304	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16835319	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16835320	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16835338	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1749429	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1749430	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1749431	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1749432	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1769999	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1972344	0.84[EUR][1000 genomes]
rs2050799	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2181858	0.90[ASN][1000 genomes]
rs2182106	0.82[CHB][hapmap]
rs2275506	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2275507	0.91[ASN][1000 genomes]
rs3738244	0.82[CHB][hapmap]
rs4379660	0.82[CHB][hapmap]
rs4403612	0.88[ASN][1000 genomes]
rs4428863	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4657848	0.82[CHB][hapmap]
rs4657854	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4657855	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4657858	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs497362	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs515964	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs523402	0.84[EUR][1000 genomes]
rs531327	0.84[ASN][1000 genomes]
rs569656	0.81[CEU][hapmap]
rs59264807	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61082463	0.90[ASN][1000 genomes]
rs61648161	0.90[ASN][1000 genomes]
rs6428152	0.86[CEU][hapmap];0.82[CHB][hapmap];0.82[GIH][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap]
rs6428154	0.81[CHB][hapmap]
rs6428156	0.82[CHB][hapmap];0.84[GIH][hapmap]
rs6428157	0.82[CHB][hapmap];0.85[GIH][hapmap]
rs6428159	0.82[CHB][hapmap]
rs6428163	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6428166	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6665666	0.82[CHB][hapmap]
rs6673271	0.82[CHB][hapmap]
rs6675833	0.82[CHB][hapmap]
rs6676878	0.82[CHB][hapmap]
rs6686065	0.90[ASN][1000 genomes]
rs6693734	0.90[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6694727	0.80[ASN][1000 genomes]
rs6697079	0.84[GIH][hapmap]
rs6697195	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs693519	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs7367986	0.90[ASN][1000 genomes]
rs7515024	0.82[CHB][hapmap]
rs7518792	0.86[CEU][hapmap];0.82[CHB][hapmap];0.82[GIH][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap]
rs7528595	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7534504	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7544027	0.90[ASN][1000 genomes]
rs7550521	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7555466	0.90[ASN][1000 genomes]
rs817138	0.83[EUR][1000 genomes]
rs817140	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs817142	0.84[EUR][1000 genomes]
rs817143	0.84[EUR][1000 genomes]
rs843844	0.91[CEU][hapmap];0.82[GIH][hapmap];0.88[TSI][hapmap];0.83[EUR][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	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1004003	chr1:193322299-193477254	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv535253	chr1:193322299-193477254	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193317800-193324800	Weak transcription	Psoas Muscle	Psoas
2	chr1:193318600-193325400	Weak transcription	HSMM	muscle
3	chr1:193320000-193325400	Weak transcription	HSMMtube	muscle
4	chr1:193321000-193325000	Weak transcription	Fetal Lung	lung
5	chr1:193323400-193325400	Enhancers	Stomach Mucosa	stomach
6	chr1:193323600-193324800	Weak transcription	Pancreas	Pancrea
7	chr1:193323600-193325200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr1:193323800-193325000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:193323800-193325200	Enhancers	HUVEC	blood vessel
10	chr1:193323800-193325600	Enhancers	Fetal Intestine Large	intestine
11	chr1:193323800-193325600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:193324000-193324600	Enhancers	HMEC	breast
13	chr1:193324000-193325000	Enhancers	NHEK	skin
14	chr1:193324000-193325200	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:193324000-193325600	Enhancers	Fetal Intestine Small	intestine
16	chr1:193324200-193324600	Flanking Active TSS	A549	lung
17	chr1:193324200-193324800	Enhancers	Hela-S3	cervix
18	chr1:193324200-193325000	Weak transcription	Fetal Heart	heart
19	chr1:193324400-193324800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:193324400-193324800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:193324400-193324800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:193324400-193325000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:193324400-193325000	Enhancers	HepG2	liver
24	chr1:193324400-193325000	Enhancers	NHLF	lung

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