Variant report

Variant	rs12328982
Chromosome Location	chr2:31517384-31517385
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10166615	1.00[EUR][1000 genomes]
rs10177050	1.00[EUR][1000 genomes]
rs10178948	1.00[EUR][1000 genomes]
rs10179054	1.00[EUR][1000 genomes]
rs10183709	1.00[EUR][1000 genomes]
rs10183716	1.00[EUR][1000 genomes]
rs10187343	1.00[EUR][1000 genomes]
rs10210639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12613524	1.00[MEX][hapmap]
rs13391292	1.00[EUR][1000 genomes]
rs13391297	1.00[EUR][1000 genomes]
rs13398126	1.00[EUR][1000 genomes]
rs13421107	1.00[EUR][1000 genomes]
rs13429494	1.00[EUR][1000 genomes]
rs17010721	1.00[MEX][hapmap]
rs57997844	1.00[EUR][1000 genomes]
rs582594	1.00[EUR][1000 genomes]
rs584875	1.00[EUR][1000 genomes]
rs586195	1.00[EUR][1000 genomes]
rs60638976	1.00[EUR][1000 genomes]
rs610240	1.00[EUR][1000 genomes]
rs611964	1.00[EUR][1000 genomes]
rs643137	1.00[EUR][1000 genomes]
rs643577	1.00[EUR][1000 genomes]
rs6543623	1.00[EUR][1000 genomes]
rs6543624	1.00[EUR][1000 genomes]
rs6735512	1.00[EUR][1000 genomes]
rs73925235	1.00[EUR][1000 genomes]

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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv978990	chr2:31513125-31517502	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31509200-31522000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:31511200-31519000	Weak transcription	NH-A	brain
3	chr2:31511200-31523200	Weak transcription	HMEC	breast
4	chr2:31511400-31519200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:31511600-31518400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:31511600-31519000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:31512800-31518600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:31516200-31521000	Enhancers	Right Ventricle	heart
9	chr2:31516200-31521600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:31516400-31518600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:31516400-31521000	Enhancers	Aorta	Aorta
12	chr2:31516600-31519200	Weak transcription	Lung	lung
13	chr2:31516800-31517400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:31516800-31517400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:31516800-31517600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:31516800-31517600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:31516800-31517800	Enhancers	NHEK	skin
18	chr2:31516800-31518200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:31517000-31517400	Enhancers	GM12878-XiMat	blood
20	chr2:31517000-31517600	Weak transcription	Esophagus	oesophagus
21	chr2:31517000-31517800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:31517000-31517800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:31517000-31520800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:31517200-31518400	Enhancers	Fetal Heart	heart
25	chr2:31517200-31522200	Weak transcription	H1 Cell Line	embryonic stem cell

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