Variant report

Variant	rs11048431
Chromosome Location	chr12:26365730-26365731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1064750	0.95[ASN][1000 genomes]
rs10771271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835695	0.85[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17381533	0.87[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2343869	0.86[GIH][hapmap]
rs748889	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs755987	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv648	chr12:26330291-26375186	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26358600-26368400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:26358600-26379000	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:26358800-26367000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:26359200-26367000	Weak transcription	Psoas Muscle	Psoas
5	chr12:26359200-26379600	Weak transcription	Aorta	Aorta
6	chr12:26359600-26379000	Weak transcription	Brain Angular Gyrus	brain
7	chr12:26359800-26366800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:26360000-26368000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:26360000-26372800	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:26364000-26365800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:26365000-26377400	Weak transcription	Brain Anterior Caudate	brain
12	chr12:26365200-26366600	Enhancers	HSMMtube	muscle
13	chr12:26365400-26365800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:26365400-26366000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:26365400-26366400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:26365400-26366600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:26365400-26366600	Enhancers	Fetal Heart	heart
18	chr12:26365400-26366800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:26365600-26366000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:26365600-26366000	Active TSS	Ovary	ovary
21	chr12:26365600-26366000	Flanking Active TSS	Osteobl	bone

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