Variant report

Variant	rs12314342
Chromosome Location	chr12:106332288-106332289
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10507205	1.00[EUR][1000 genomes]
rs11112802	1.00[EUR][1000 genomes]
rs11112811	1.00[EUR][1000 genomes]
rs12301159	1.00[EUR][1000 genomes]
rs12311347	1.00[EUR][1000 genomes]
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]
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]
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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106324800-106332400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:106325200-106332400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:106325400-106336600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:106325600-106335200	Enhancers	HMEC	breast
5	chr12:106327200-106335000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:106328200-106339200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:106328600-106335000	Enhancers	NHEK	skin
8	chr12:106330600-106334000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:106331000-106332400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:106331000-106332600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:106331000-106337200	Weak transcription	HSMM	muscle
12	chr12:106331000-106337400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:106331800-106334800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:106332000-106333000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr12:106332000-106333200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr12:106332200-106332800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:106332200-106332800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:106332200-106337200	Weak transcription	HSMMtube	muscle

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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