Variant report

Variant	rs2130007
Chromosome Location	chr12:10332291-10332292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11833740	0.91[GIH][hapmap]
rs16910631	0.91[GIH][hapmap]
rs2130008	1.00[CEU][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59833226	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10325400-10335000	Weak transcription	A549	lung
2	chr12:10326200-10334800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:10329600-10339000	Weak transcription	Fetal Intestine Large	intestine
4	chr12:10330200-10332400	Weak transcription	HMEC	breast
5	chr12:10330600-10333200	Enhancers	Placenta	Placenta
6	chr12:10331000-10334600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:10331200-10332600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:10331200-10332800	Enhancers	Fetal Intestine Small	intestine
9	chr12:10331200-10333000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:10331200-10333400	Enhancers	NHEK	skin
11	chr12:10331400-10332600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:10331400-10332600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:10331400-10333400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:10331400-10333400	Active TSS	Fetal Kidney	kidney
15	chr12:10331400-10334600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:10331600-10333000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:10331600-10333400	Flanking Active TSS	Hela-S3	cervix
18	chr12:10331800-10333200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr12:10331800-10336600	Weak transcription	Fetal Stomach	stomach
20	chr12:10332000-10332600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:10332000-10333400	Enhancers	NHLF	lung
22	chr12:10332200-10333200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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