Variant report

Variant	rs12331633
Chromosome Location	chr4:30832319-30832320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10006361	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs10008728	0.83[CHB][hapmap]
rs10024115	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs10517219	0.82[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13108018	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1348921	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1374658	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447360	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs1447364	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs1486787	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs4235010	0.82[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs4235011	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4368569	0.81[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes]
rs4380480	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs4466008	0.82[CEU][hapmap];0.91[CHB][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes]
rs4493494	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4498103	0.82[CEU][hapmap];0.91[CHB][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap]
rs4504214	0.82[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4505780	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs4527444	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4557224	0.91[CHB][hapmap];0.85[GIH][hapmap];0.80[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap]
rs4611883	0.82[CEU][hapmap];0.91[CHB][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes]
rs4619848	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4692105	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.83[MEX][hapmap];0.98[MKK][hapmap];0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6448723	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6812005	0.88[GIH][hapmap]
rs6815007	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6828872	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs6856144	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs7434610	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7654583	0.81[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7670155	0.86[CHB][hapmap]
rs7678055	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692210	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695488	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs9291549	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs9291553	0.85[CEU][hapmap];0.82[AMR][1000 genomes]
rs9999290	0.86[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4285	chr4:30815642-30838784	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr4:30813800-30835800	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:30825200-30835800	Weak transcription	Aorta	Aorta
3	chr4:30827200-30833400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:30830200-30838400	Weak transcription	Fetal Stomach	stomach
5	chr4:30830600-30837800	Weak transcription	NH-A	brain
6	chr4:30830800-30838400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:30832000-30832800	Enhancers	HUVEC	blood vessel
8	chr4:30832200-30832400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:30832200-30834200	Enhancers	Fetal Heart	heart

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