Variant report

Variant	rs2067512
Chromosome Location	chr4:173026078-173026079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:173021211..173023179-chr4:173025772..173028444,2	K562	blood:
2	chr4:173025369..173026870-chr4:173057043..173059254,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10003069	0.80[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10005071	0.90[ASN][1000 genomes]
rs10011409	0.90[ASN][1000 genomes]
rs10012756	0.80[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10014481	0.80[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10015076	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10015447	0.88[ASN][1000 genomes]
rs10016776	0.80[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10017456	0.90[ASN][1000 genomes]
rs10019010	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10019067	0.90[ASN][1000 genomes]
rs10019168	0.90[ASN][1000 genomes]
rs10026247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10026922	0.90[ASN][1000 genomes]
rs10028917	0.90[ASN][1000 genomes]
rs10028922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10030547	0.90[ASN][1000 genomes]
rs11132928	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11132930	0.80[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11132931	0.86[ASN][1000 genomes]
rs12505392	0.92[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs12506901	0.80[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13110849	0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13124037	0.84[ASN][1000 genomes]
rs13434475	0.82[ASN][1000 genomes]
rs1491617	0.80[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1540653	0.90[ASN][1000 genomes]
rs17058054	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17058064	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs17058085	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs17219583	0.80[CEU][hapmap]
rs1873567	0.86[ASN][1000 genomes]
rs1873568	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1907562	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs28458891	0.83[ASN][1000 genomes]
rs28461733	0.86[ASN][1000 genomes]
rs28482366	0.90[ASN][1000 genomes]
rs28516712	0.86[ASN][1000 genomes]
rs28526698	0.84[ASN][1000 genomes]
rs28666601	0.90[ASN][1000 genomes]
rs28825385	0.90[ASN][1000 genomes]
rs34771884	0.86[ASN][1000 genomes]
rs35379123	0.85[ASN][1000 genomes]
rs3886930	0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4467518	0.82[ASN][1000 genomes]
rs4479668	0.86[ASN][1000 genomes]
rs4692912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4692913	0.82[ASN][1000 genomes]
rs56200377	0.84[ASN][1000 genomes]
rs6553608	0.80[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6553609	0.80[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6553610	0.80[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6553611	0.80[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6812091	0.86[ASN][1000 genomes]
rs6815512	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6828849	0.86[ASN][1000 genomes]
rs6831860	0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6835483	0.84[ASN][1000 genomes]
rs6839159	0.90[ASN][1000 genomes]
rs6840554	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6840612	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6841027	0.85[ASN][1000 genomes]
rs6846244	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6852117	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6852175	0.86[ASN][1000 genomes]
rs719799	0.80[CEU][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs72700908	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72700949	0.85[ASN][1000 genomes]
rs72700951	0.90[ASN][1000 genomes]
rs7377365	0.86[ASN][1000 genomes]
rs7377366	0.80[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7377766	0.80[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7663336	0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs7663655	0.90[ASN][1000 genomes]
rs7664816	0.90[ASN][1000 genomes]
rs7665545	0.82[ASN][1000 genomes]
rs7678546	0.90[ASN][1000 genomes]
rs7684985	0.90[ASN][1000 genomes]
rs7685381	0.80[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7693499	0.90[ASN][1000 genomes]
rs7697010	0.92[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9884573	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9990764	0.81[CHB][hapmap]
rs9991515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9994170	0.90[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	nsv1022527	chr4:172547732-173236939	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv537357	chr4:172547732-173236939	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1024693	chr4:172609237-173236939	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv498033	chr4:172830955-173121438	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv830152	chr4:172906364-173087067	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv596198	chr4:172914759-173035260	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv596199	chr4:172922257-173035260	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv596200	chr4:172932137-173035260	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv980436	chr4:173005588-173060038	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	esv1798129	chr4:173026078-173043756	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173026000-173026200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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