Variant report

Variant	rs7313316
Chromosome Location	chr12:25487463-25487464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11047967	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12300542	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12313526	0.82[ASN][1000 genomes]
rs4298992	0.97[EUR][1000 genomes]
rs4569091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4633542	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4641568	0.83[AMR][1000 genomes]
rs4963606	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4963607	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4963608	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4963871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7298675	0.97[EUR][1000 genomes]
rs74070448	0.88[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	nsv898928	chr12:25458354-25499342	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv976719	chr12:25482467-25552186	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25485800-25487600	Enhancers	Hela-S3	cervix
2	chr12:25486800-25487600	Enhancers	Primary hematopoietic stem cells	blood
3	chr12:25486800-25487600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:25486800-25487600	Enhancers	Colon Smooth Muscle	Colon
5	chr12:25486800-25487800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:25487000-25491200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:25487200-25487600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:25487200-25487600	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr12:25487200-25487600	Enhancers	A549	lung
10	chr12:25487200-25487600	Enhancers	GM12878-XiMat	blood
11	chr12:25487200-25487600	Enhancers	NH-A	brain
12	chr12:25487200-25488400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:25487400-25487600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:25487400-25487600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:25487400-25487600	Enhancers	Osteobl	bone
16	chr12:25487400-25487800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr12:25487400-25488000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:25487400-25488600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:25487400-25488800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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