Variant report

Variant	rs11176340
Chromosome Location	chr12:67027437-67027438
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10878476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878477	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176313	0.90[AFR][1000 genomes]
rs11176324	0.84[ASN][1000 genomes]
rs11176334	0.88[EUR][1000 genomes]
rs11176353	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12369322	0.90[AFR][1000 genomes]
rs12427109	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827756	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17246511	0.82[ASN][1000 genomes]
rs34359969	0.89[AFR][1000 genomes]
rs34512292	0.90[AFR][1000 genomes]
rs7312296	0.90[AFR][1000 genomes]
rs7955723	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv469461	chr12:67007070-67038595	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv559208	chr12:67007070-67038595	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67023400-67033000	Weak transcription	Fetal Kidney	kidney
2	chr12:67025000-67030400	Weak transcription	Pancreas	Pancrea
3	chr12:67025600-67027600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:67026000-67029000	Enhancers	HMEC	breast
5	chr12:67026600-67027800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:67026600-67029200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:67027200-67028000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:67027200-67028000	Enhancers	Fetal Lung	lung
9	chr12:67027200-67028000	Enhancers	HUVEC	blood vessel
10	chr12:67027400-67027800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:67027400-67027800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:67027400-67027800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:67027400-67027800	Enhancers	Fetal Intestine Small	intestine
14	chr12:67027400-67028000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:67027400-67028000	Enhancers	Adipose Nuclei	Adipose
16	chr12:67027400-67028000	Enhancers	NH-A	brain
17	chr12:67027400-67028000	Flanking Active TSS	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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