Variant report

Variant	rs2012401
Chromosome Location	chr2:187631817-187631818
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187626591..187628970-chr2:187631316..187633889,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10165992	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1072901	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12471718	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12475476	1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs12618322	0.89[CHB][hapmap]
rs12620821	0.88[CHB][hapmap]
rs13020260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1448427	0.88[CHB][hapmap]
rs17406346	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2012128	0.99[ASN][1000 genomes]
rs2121975	0.88[CHB][hapmap]
rs2121976	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2276562	0.88[ASN][1000 genomes]
rs2290083	0.86[ASN][1000 genomes]
rs2595383	0.97[ASN][1000 genomes]
rs2595384	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2595386	0.98[ASN][1000 genomes]
rs2595395	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2682863	0.92[ASN][1000 genomes]
rs2682868	0.86[ASN][1000 genomes]
rs2682873	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs3114941	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3213964	0.88[CHB][hapmap]
rs34056045	0.82[ASN][1000 genomes]
rs3768781	0.84[CHB][hapmap]
rs3768785	1.00[CHB][hapmap]
rs3816375	0.88[CHB][hapmap]
rs3911238	0.84[CHB][hapmap]
rs41265951	0.84[ASN][1000 genomes]
rs4666713	1.00[CEU][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4667108	0.88[CHB][hapmap]
rs4667112	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4667113	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62173041	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62173045	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62196185	0.90[ASN][1000 genomes]
rs6705757	0.88[CHB][hapmap]
rs718259	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7585442	0.88[CHB][hapmap]
rs7585471	0.88[CHB][hapmap]
rs930657	0.88[CHB][hapmap]
rs9967663	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[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	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187612000-187636200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:187613800-187634000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:187622600-187636200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:187623000-187636200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:187627200-187636800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:187627600-187633000	Weak transcription	Brain Angular Gyrus	brain
7	chr2:187627600-187634000	Weak transcription	Placenta	Placenta
8	chr2:187627600-187635200	Weak transcription	Brain Substantia Nigra	brain
9	chr2:187628000-187635200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:187628600-187633200	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links