Variant report

Variant	rs12621493
Chromosome Location	chr2:191467149-191467150
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191466430..191468300-chr2:191469650..191471465,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10451566	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11897266	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12464923	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12472240	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12473460	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12613365	0.95[CEU][hapmap];0.87[CHD][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12615925	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12619125	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12619560	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12622496	0.95[CEU][hapmap];0.87[CHD][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12693576	0.95[CEU][hapmap];0.87[CHD][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12987797	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13013848	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13019278	0.95[CEU][hapmap];0.87[CHD][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13028201	0.92[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029743	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34274882	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34417560	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34825614	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36055519	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3811609	0.95[CEU][hapmap];0.84[CHD][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4073873	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4129081	0.91[CEU][hapmap];0.85[CHD][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap]
rs4264585	0.95[CEU][hapmap];0.87[CHD][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4324342	0.95[CEU][hapmap];0.87[CHD][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4853508	0.80[EUR][1000 genomes]
rs4853512	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4853718	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4853720	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4853721	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs55754136	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55987230	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6434400	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6707773	0.95[CEU][hapmap];0.87[CHD][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6711006	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72911109	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7560318	0.91[CEU][hapmap];0.85[CHD][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs7601745	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7608180	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12621493	TMEM194B	cis	parietal	SCAN
rs12621493	HIBCH	cis	parietal	SCAN
rs12621493	HIBCH	cis	cerebellum	SCAN
rs12621493	ZC3H15	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191450400-191469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:191450600-191467200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:191456600-191491800	Weak transcription	Aorta	Aorta
4	chr2:191457000-191471600	Weak transcription	Psoas Muscle	Psoas
5	chr2:191458400-191468200	Weak transcription	Left Ventricle	heart
6	chr2:191462000-191471600	Weak transcription	Fetal Lung	lung
7	chr2:191462000-191471600	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:191463600-191468800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:191463800-191467200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:191463800-191470600	Weak transcription	HMEC	breast
11	chr2:191464800-191471600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:191464800-191471800	Weak transcription	Right Atrium	heart
13	chr2:191464800-191472000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:191465000-191471800	Weak transcription	Right Ventricle	heart
15	chr2:191465200-191468000	Weak transcription	Fetal Heart	heart
16	chr2:191465400-191467200	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:191465400-191468800	Weak transcription	Hela-S3	cervix
18	chr2:191465400-191470000	Weak transcription	Primary T cells from cord blood	blood
19	chr2:191465600-191471600	Weak transcription	HSMMtube	muscle
20	chr2:191465800-191467400	Weak transcription	A549	lung
21	chr2:191467000-191467800	Enhancers	Brain Substantia Nigra	brain
22	chr2:191467000-191469600	Enhancers	Brain Angular Gyrus	brain

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