Variant report

Variant	rs4963972
Chromosome Location	chr12:26361800-26361801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10842693	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12422262	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12423472	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12424240	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36034234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4963653	0.95[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs4963655	0.91[ASN][1000 genomes]
rs4963656	0.98[ASN][1000 genomes]
rs4963973	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs59085537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61914487	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73090874	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7470	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs765071	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9214	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9850	0.95[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.96[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4963972	SSPN	cis	multi-tissue	Pritchard

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26352200-26365200	Weak transcription	HSMMtube	muscle
2	chr12:26357800-26365600	Weak transcription	Ovary	ovary
3	chr12:26358200-26365200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:26358400-26363600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:26358600-26368400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:26358600-26379000	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:26358800-26362600	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:26358800-26367000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:26359000-26362400	Weak transcription	Fetal Heart	heart
10	chr12:26359200-26364000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:26359200-26367000	Weak transcription	Psoas Muscle	Psoas
12	chr12:26359200-26379600	Weak transcription	Aorta	Aorta
13	chr12:26359600-26379000	Weak transcription	Brain Angular Gyrus	brain
14	chr12:26359800-26366800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:26360000-26364000	Weak transcription	Brain Anterior Caudate	brain
16	chr12:26360000-26364400	Weak transcription	Brain Substantia Nigra	brain
17	chr12:26360000-26368000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:26360000-26372800	Weak transcription	Brain Hippocampus Middle	brain

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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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