Variant report

Variant	rs59785662
Chromosome Location	chr2:46917764-46917765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46916264..46918533-chr2:46923065..46926019,3	K562	blood:
2	chr2:46917588..46920626-chr2:47107576..47110678,3	K562	blood:
3	chr2:46916264..46918860-chr2:46922817..46927485,4	K562	blood:

Variant related genes	Relation type
ENSG00000171150	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10495937	1.00[ASN][1000 genomes]
rs1446496	1.00[ASN][1000 genomes]
rs1446497	1.00[ASN][1000 genomes]
rs1446498	1.00[ASN][1000 genomes]
rs17035524	1.00[ASN][1000 genomes]
rs17771098	1.00[ASN][1000 genomes]
rs17771201	1.00[ASN][1000 genomes]
rs17771942	1.00[ASN][1000 genomes]
rs17773016	1.00[ASN][1000 genomes]
rs17823065	1.00[ASN][1000 genomes]
rs17823581	1.00[ASN][1000 genomes]
rs41453849	0.83[ASN][1000 genomes]
rs55928499	1.00[ASN][1000 genomes]
rs56060227	0.83[ASN][1000 genomes]
rs56199036	1.00[ASN][1000 genomes]
rs56800355	1.00[ASN][1000 genomes]
rs57124017	1.00[ASN][1000 genomes]
rs57420323	1.00[ASN][1000 genomes]
rs58200475	1.00[ASN][1000 genomes]
rs58362257	0.83[ASN][1000 genomes]
rs58509367	1.00[ASN][1000 genomes]
rs58903656	1.00[ASN][1000 genomes]
rs59186028	1.00[ASN][1000 genomes]
rs59882453	0.83[ASN][1000 genomes]
rs60506146	1.00[ASN][1000 genomes]
rs61075718	0.83[ASN][1000 genomes]
rs61654472	0.83[ASN][1000 genomes]
rs72802441	1.00[ASN][1000 genomes]
rs72802445	1.00[ASN][1000 genomes]
rs72802456	1.00[ASN][1000 genomes]
rs72802458	1.00[ASN][1000 genomes]
rs72802462	1.00[ASN][1000 genomes]
rs72802463	1.00[ASN][1000 genomes]
rs72802464	1.00[ASN][1000 genomes]
rs72802465	1.00[ASN][1000 genomes]
rs72802486	1.00[ASN][1000 genomes]
rs72802487	1.00[ASN][1000 genomes]
rs72802492	1.00[ASN][1000 genomes]
rs72802493	1.00[ASN][1000 genomes]
rs72802498	1.00[ASN][1000 genomes]
rs72802499	1.00[ASN][1000 genomes]
rs72802501	1.00[ASN][1000 genomes]
rs72802502	1.00[ASN][1000 genomes]
rs7566275	1.00[ASN][1000 genomes]
rs7578911	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
6	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv3365634	chr2:46910377-46929000	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3460455	chr2:46910422-46928955	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv3460454	chr2:46910435-46928955	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv3460456	chr2:46910436-46928951	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46911600-46924600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:46916800-46920400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:46917000-46918000	Enhancers	NHDF-Ad	bronchial
4	chr2:46917000-46918200	Enhancers	Hela-S3	cervix
5	chr2:46917000-46919800	Enhancers	Osteobl	bone
6	chr2:46917000-46920000	Enhancers	NHLF	lung
7	chr2:46917200-46918000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:46917200-46918000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr2:46917200-46918400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:46917200-46918600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:46917200-46919200	Enhancers	A549	lung
12	chr2:46917400-46917800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:46917400-46919200	Enhancers	NH-A	brain
14	chr2:46917600-46918200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:46917600-46919000	Enhancers	HUVEC	blood vessel

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