Variant report

Variant	rs4657855
Chromosome Location	chr1:193309614-193309615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10754054	0.84[EUR][1000 genomes]
rs10754055	0.86[EUR][1000 genomes]
rs10801194	0.86[EUR][1000 genomes]
rs10921336	0.83[EUR][1000 genomes]
rs10921343	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12025186	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12025393	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12032958	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12034095	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12037055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12040365	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12040832	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12041558	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12041893	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12047390	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12048579	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12124282	0.99[ASN][1000 genomes]
rs1221502	0.89[EUR][1000 genomes]
rs1339961	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1361405	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1616234	0.86[EUR][1000 genomes]
rs1632444	0.86[EUR][1000 genomes]
rs16835282	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16835304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16835319	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16835320	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16835338	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1749429	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1749430	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1749431	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1749432	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1769999	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1770000	0.99[ASN][1000 genomes]
rs1972344	0.83[EUR][1000 genomes]
rs1972345	0.89[EUR][1000 genomes]
rs2050799	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2254646	0.86[EUR][1000 genomes]
rs2275506	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2477549	0.87[EUR][1000 genomes]
rs2486842	0.82[EUR][1000 genomes]
rs2486843	0.99[ASN][1000 genomes]
rs4428863	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4657854	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657856	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4657858	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs475163	0.81[EUR][1000 genomes]
rs497362	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs503265	0.86[EUR][1000 genomes]
rs515964	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs523402	0.83[EUR][1000 genomes]
rs524701	0.83[EUR][1000 genomes]
rs531327	0.87[ASN][1000 genomes]
rs543788	0.86[EUR][1000 genomes]
rs560900	0.89[EUR][1000 genomes]
rs569656	0.87[EUR][1000 genomes]
rs571029	0.84[EUR][1000 genomes]
rs578639	0.89[EUR][1000 genomes]
rs59264807	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6428159	0.83[EUR][1000 genomes]
rs6428163	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6428166	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662104	0.99[ASN][1000 genomes]
rs6671476	0.86[EUR][1000 genomes]
rs6693734	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6697195	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6702762	1.00[ASN][1000 genomes]
rs693519	0.81[EUR][1000 genomes]
rs7528595	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7543029	0.99[ASN][1000 genomes]
rs7550521	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs817136	0.83[EUR][1000 genomes]
rs817138	0.81[EUR][1000 genomes]
rs817140	0.81[EUR][1000 genomes]
rs817142	0.83[EUR][1000 genomes]
rs817143	0.83[EUR][1000 genomes]
rs843844	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv3358111	chr1:193308994-193309943	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3365489	chr1:193309004-193309944	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193305800-193317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:193307600-193310800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:193308000-193310400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:193308000-193310400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:193308000-193317400	Weak transcription	HSMM	muscle
6	chr1:193308200-193310600	Weak transcription	NHDF-Ad	bronchial
7	chr1:193308400-193309800	Enhancers	Fetal Intestine Large	intestine
8	chr1:193308400-193311600	Enhancers	Fetal Intestine Small	intestine
9	chr1:193309600-193310600	Weak transcription	Duodenum Mucosa	Duodenum

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