Variant report

Variant	rs12623472
Chromosome Location	chr2:99498620-99498621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99468965..99470613-chr2:99498482..99500430,2	MCF-7	breast:
2	chr2:99482631..99484233-chr2:99497565..99499483,2	MCF-7	breast:
3	chr2:99496861..99499359-chr2:99536872..99539467,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12232948	1.00[CHB][hapmap]
rs12611969	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12612736	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12614153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12615518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12616060	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12616866	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12617554	0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12619244	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12620812	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12622254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12622445	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12623022	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12623171	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12623172	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2871242	0.93[AMR][1000 genomes]
rs35979410	1.00[CHB][hapmap];0.96[AMR][1000 genomes]
rs56943554	0.96[AMR][1000 genomes]
rs57480100	0.96[AMR][1000 genomes]
rs61419135	0.96[AMR][1000 genomes]
rs61552487	0.96[AMR][1000 genomes]
rs61604726	0.96[AMR][1000 genomes]
rs6760422	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72958631	0.93[AMR][1000 genomes]
rs7557719	0.89[AMR][1000 genomes]
rs868921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99485600-99499800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:99487600-99499400	Weak transcription	Gastric	stomach
3	chr2:99492000-99500400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:99496800-99501800	Enhancers	Esophagus	oesophagus
5	chr2:99497200-99499400	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:99497800-99505600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:99498200-99499400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links