Variant report

Variant	rs2160990
Chromosome Location	chr12:106346059-106346060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106336753..106339522-chr12:106344807..106346939,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10507206	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10507208	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11112809	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11829465	0.92[ASW][hapmap]
rs11832233	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11834252	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1344565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1421448	0.97[ASN][1000 genomes]
rs1421449	0.97[ASN][1000 genomes]
rs17037888	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17037895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17037905	1.00[ASN][1000 genomes]
rs17037907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17037908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17037910	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17037913	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2080754	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58383907	0.97[ASN][1000 genomes]
rs59302317	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59403929	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs59613985	0.97[ASN][1000 genomes]
rs59695411	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61577537	0.89[ASN][1000 genomes]
rs7139318	0.97[ASN][1000 genomes]
rs7297644	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7299253	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73391298	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73393231	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73393236	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73393251	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73393253	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73393255	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73393256	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7956779	0.91[AFR][1000 genomes];0.83[AMR][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	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106336600-106347400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:106339000-106347600	Weak transcription	NHEK	skin
3	chr12:106339200-106348600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:106339200-106348600	Weak transcription	HMEC	breast
5	chr12:106340600-106355800	Weak transcription	Esophagus	oesophagus
6	chr12:106342800-106348800	Weak transcription	HSMMtube	muscle
7	chr12:106343000-106348800	Weak transcription	Aorta	Aorta
8	chr12:106343400-106347400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:106343400-106348600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:106344800-106346200	Enhancers	Fetal Heart	heart
11	chr12:106346000-106348600	Weak transcription	Left Ventricle	heart
12	chr12:106346000-106348600	Weak transcription	Right Atrium	heart
13	chr12:106346000-106348600	Weak transcription	Right Ventricle	heart

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