Variant report

Variant	rs11612694
Chromosome Location	chr12:106617466-106617467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10861562	0.94[LWK][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs11612674	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4545653	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298743	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7959575	0.82[CEU][hapmap];0.80[CHB][hapmap];0.84[CHD][hapmap];0.83[JPT][hapmap];0.84[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	nsv1040534	chr12:106528394-106619175	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106606600-106626400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:106614800-106621000	Weak transcription	Esophagus	oesophagus
3	chr12:106615000-106621200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:106617000-106618200	Enhancers	Stomach Smooth Muscle	stomach
5	chr12:106617000-106618600	Enhancers	Ovary	ovary
6	chr12:106617200-106618000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr12:106617200-106618000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr12:106617200-106618000	Enhancers	HSMM	muscle
9	chr12:106617200-106618400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:106617200-106618600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:106617200-106618600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:106617400-106617800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:106617400-106618000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:106617400-106618000	Enhancers	Psoas Muscle	Psoas
15	chr12:106617400-106618000	Enhancers	HSMMtube	muscle
16	chr12:106617400-106618400	Enhancers	Adipose Nuclei	Adipose
17	chr12:106617400-106618400	Enhancers	Fetal Heart	heart

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

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