Variant report

Variant	rs2691444
Chromosome Location	chr1:58004009-58004010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10493229	1.00[EUR][1000 genomes]
rs10889057	1.00[EUR][1000 genomes]
rs11207053	1.00[EUR][1000 genomes]
rs11803909	1.00[EUR][1000 genomes]
rs11805586	1.00[EUR][1000 genomes]
rs11810273	1.00[EUR][1000 genomes]
rs12067444	1.00[EUR][1000 genomes]
rs12067490	1.00[EUR][1000 genomes]
rs1341311	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1341312	1.00[GIH][hapmap];0.94[LWK][hapmap];0.98[MKK][hapmap];0.83[AFR][1000 genomes]
rs1417761	1.00[GIH][hapmap]
rs1524706	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1524712	1.00[EUR][1000 genomes]
rs1524718	1.00[GIH][hapmap]
rs1524719	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1524722	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs1524731	1.00[EUR][1000 genomes]
rs1534048	1.00[EUR][1000 genomes]
rs1547793	1.00[AMR][1000 genomes]
rs17115844	1.00[GIH][hapmap]
rs1815685	1.00[EUR][1000 genomes]
rs1880442	1.00[ASW][hapmap];0.97[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1935045	1.00[EUR][1000 genomes]
rs2204376	1.00[EUR][1000 genomes]
rs2265623	1.00[EUR][1000 genomes]
rs2691429	1.00[AMR][1000 genomes]
rs2691443	0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691445	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2691447	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2691448	1.00[EUR][1000 genomes]
rs2691455	1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[EUR][1000 genomes]
rs2793624	1.00[GIH][hapmap]
rs2793641	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2793649	1.00[AMR][1000 genomes]
rs2805850	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2805851	1.00[EUR][1000 genomes]
rs2805856	1.00[AMR][1000 genomes]
rs28391765	1.00[EUR][1000 genomes]
rs28621926	1.00[EUR][1000 genomes]
rs4310463	1.00[EUR][1000 genomes]
rs4348747	1.00[EUR][1000 genomes]
rs4526638	1.00[EUR][1000 genomes]
rs4529731	1.00[EUR][1000 genomes]
rs4553222	1.00[EUR][1000 genomes]
rs4554738	1.00[EUR][1000 genomes]
rs486804	1.00[GIH][hapmap]
rs523282	1.00[GIH][hapmap]
rs539257	1.00[GIH][hapmap]
rs56873272	1.00[EUR][1000 genomes]
rs58873103	1.00[EUR][1000 genomes]
rs60116819	1.00[EUR][1000 genomes]
rs60867983	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908597	1.00[EUR][1000 genomes]
rs7551052	1.00[EUR][1000 genomes]
rs947237	1.00[EUR][1000 genomes]
rs947238	1.00[EUR][1000 genomes]
rs947241	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1012555	chr1:57950355-58103389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv870802	chr1:57965114-58037031	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv530017	chr1:58002290-58669736	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57989200-58012200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:58002200-58007800	Weak transcription	Stomach Mucosa	stomach
3	chr1:58002600-58007400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:58003800-58004400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:58003800-58004600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr1:58003800-58004800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:58003800-58004800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr1:58003800-58004800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:58004000-58005000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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