Variant report

Variant	rs317305
Chromosome Location	chr13:93802656-93802657
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs161006	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832682	chr13:93700861-93874801	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv900912	chr13:93800114-93853929	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs317305	GPC6	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93800000-93802800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:93800000-93802800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr13:93800000-93803000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:93800000-93803000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr13:93800000-93803200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:93800000-93803400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr13:93800200-93803400	Weak transcription	HSMM	muscle
8	chr13:93800400-93803000	Weak transcription	Osteobl	bone
9	chr13:93800400-93803200	Weak transcription	NH-A	brain
10	chr13:93802200-93804800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:93802400-93802800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:93802400-93803000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:93802400-93804400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:93802600-93803000	Weak transcription	HMEC	breast
15	chr13:93802600-93803600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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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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