Variant report

Variant	rs7593770
Chromosome Location	chr2:210820227-210820228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10166289	1.00[ASN][1000 genomes]
rs10170096	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170116	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10178327	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193560	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202111	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1035090	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13389681	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394206	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406181	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409845	1.00[CEU][hapmap];0.93[GIH][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426807	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13426959	1.00[EUR][1000 genomes]
rs1558439	1.00[MEX][hapmap]
rs16843914	1.00[MEX][hapmap]
rs16843943	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843954	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843966	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843970	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843977	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843979	1.00[MEX][hapmap]
rs16843980	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16843983	1.00[MEX][hapmap]
rs2215626	1.00[MEX][hapmap]
rs2215670	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28587774	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41502644	1.00[MEX][hapmap]
rs56947775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59268468	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435539	1.00[MEX][hapmap]
rs6435545	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435547	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705019	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs6711347	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724144	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729366	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737494	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741654	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741657	1.00[MEX][hapmap]
rs6758085	1.00[MEX][hapmap]
rs73078966	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73078987	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73078988	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73078990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079001	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73080863	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557496	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558363	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561328	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572197	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572221	1.00[MEX][hapmap]
rs7575283	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575600	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584962	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598431	1.00[MEX][hapmap]
rs7608699	1.00[MEX][hapmap]

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	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv998029	chr2:210751692-210838759	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv979382	chr2:210817778-210822038	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210797200-210822800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:210806600-210825400	Weak transcription	Fetal Brain Female	brain
3	chr2:210806800-210825400	Weak transcription	Brain Anterior Caudate	brain
4	chr2:210807000-210825000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:210807000-210866000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:210808800-210825400	Weak transcription	Pancreas	Pancrea
7	chr2:210812400-210820800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:210816800-210823600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:210820200-210823800	Weak transcription	Fetal Lung	lung
10	chr2:210820200-210824000	Weak transcription	Fetal Stomach	stomach

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