Variant report

Variant	rs12313670
Chromosome Location	chr12:26383834-26383835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11048432	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313736	1.00[CEU][hapmap];0.88[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12314202	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318384	0.86[EUR][1000 genomes]
rs12423472	0.84[YRI][hapmap]
rs1351334	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17381729	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4963653	0.84[YRI][hapmap]
rs60666103	0.95[EUR][1000 genomes]
rs73295081	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73295090	0.95[EUR][1000 genomes]
rs73295095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs765071	0.84[YRI][hapmap]
rs7955562	0.88[GIH][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7955569	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7971293	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv1840338	chr12:26367307-26390319	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26366600-26390600	Weak transcription	HSMMtube	muscle
2	chr12:26380000-26393400	Weak transcription	Esophagus	oesophagus
3	chr12:26380000-26393400	Weak transcription	Left Ventricle	heart
4	chr12:26380200-26384400	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:26380200-26391200	Weak transcription	HSMM	muscle
6	chr12:26380200-26391800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:26380200-26391800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:26380200-26391800	Weak transcription	Right Ventricle	heart
9	chr12:26380200-26392000	Weak transcription	Aorta	Aorta
10	chr12:26380400-26384400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:26380400-26391800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:26380400-26392200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:26380600-26386600	Weak transcription	Fetal Stomach	stomach
14	chr12:26380600-26391800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:26380800-26384200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:26380800-26386600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:26380800-26391200	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:26380800-26391800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:26381000-26386400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:26383400-26387200	Weak transcription	Fetal Intestine Small	intestine
21	chr12:26383600-26384600	Enhancers	Ovary	ovary
22	chr12:26383800-26384200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:26383800-26384600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:26383800-26391400	Weak transcription	NHDF-Ad	bronchial

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