Variant report

Variant	rs6719241
Chromosome Location	chr2:234215226-234215227
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1000548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10803619	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11679064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11682236	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11682898	1.00[CHB][hapmap]
rs11694406	0.86[JPT][hapmap]
rs11890330	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11890449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2289476	1.00[CHB][hapmap]
rs2304775	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3792099	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3792101	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3828307	0.82[CEU][hapmap];1.00[CHD][hapmap]
rs3828308	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs55754152	1.00[ASN][1000 genomes]
rs55895356	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56242862	1.00[ASN][1000 genomes]
rs59303693	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6748547	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[YRI][hapmap];0.93[ASN][1000 genomes]
rs6753242	0.86[JPT][hapmap]
rs72976324	1.00[ASN][1000 genomes]
rs72976366	1.00[ASN][1000 genomes]
rs72978306	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72978311	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72978313	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72978315	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72978317	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7564805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7565275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7578402	1.00[ASN][1000 genomes]
rs7583380	1.00[CEU][hapmap];1.00[JPT][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]
rs7585217	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7594365	1.00[ASN][1000 genomes]
rs7594781	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7600743	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584699	chr2:234182240-234255547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234181400-234216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:234203400-234216000	Weak transcription	Hela-S3	cervix
3	chr2:234205000-234216200	Weak transcription	Left Ventricle	heart
4	chr2:234205400-234219800	Weak transcription	Spleen	Spleen
5	chr2:234206000-234215400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:234206000-234218600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:234206400-234216200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:234206400-234218800	Weak transcription	Right Atrium	heart
9	chr2:234207800-234216000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:234209600-234216000	Weak transcription	Fetal Stomach	stomach
11	chr2:234215200-234215600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:234215200-234216000	Enhancers	HepG2	liver

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