Variant report

Variant	rs12311347
Chromosome Location	chr12:106348335-106348336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10507205	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112785	1.00[ASN][1000 genomes]
rs11112802	1.00[EUR][1000 genomes]
rs11112811	1.00[EUR][1000 genomes]
rs11112819	1.00[ASN][1000 genomes]
rs12301159	1.00[EUR][1000 genomes]
rs12314342	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12315345	1.00[MEX][hapmap]
rs13378063	1.00[EUR][1000 genomes]
rs1421450	1.00[EUR][1000 genomes]
rs17037848	1.00[EUR][1000 genomes]
rs17037959	1.00[EUR][1000 genomes]
rs17037993	1.00[EUR][1000 genomes]
rs17038001	1.00[EUR][1000 genomes]
rs17038024	1.00[EUR][1000 genomes]
rs34404995	1.00[EUR][1000 genomes]
rs41513347	1.00[EUR][1000 genomes]
rs61179844	1.00[ASN][1000 genomes]
rs6539236	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7135356	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7298805	1.00[EUR][1000 genomes]
rs7299337	1.00[EUR][1000 genomes]
rs7312705	1.00[EUR][1000 genomes]
rs73391203	1.00[EUR][1000 genomes]
rs73391208	1.00[EUR][1000 genomes]
rs73391222	1.00[EUR][1000 genomes]
rs744346	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs744347	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs753924	1.00[MEX][hapmap]
rs7962923	1.00[MEX][hapmap]
rs7968919	1.00[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	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106339200-106348600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:106339200-106348600	Weak transcription	HMEC	breast
3	chr12:106340600-106355800	Weak transcription	Esophagus	oesophagus
4	chr12:106342800-106348800	Weak transcription	HSMMtube	muscle
5	chr12:106343000-106348800	Weak transcription	Aorta	Aorta
6	chr12:106343400-106348600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:106346000-106348600	Weak transcription	Left Ventricle	heart
8	chr12:106346000-106348600	Weak transcription	Right Atrium	heart
9	chr12:106346000-106348600	Weak transcription	Right Ventricle	heart
10	chr12:106346200-106353800	Weak transcription	Lung	lung
11	chr12:106347400-106349600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:106347400-106349800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:106347600-106348800	Enhancers	K562	blood
14	chr12:106347800-106348600	Weak transcription	NHEK	skin
15	chr12:106348200-106349600	Enhancers	Placenta	Placenta
16	chr12:106348200-106352000	Enhancers	Fetal Heart	heart

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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