Variant report

Variant	rs869416
Chromosome Location	chr12:30571531-30571532
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1506394	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1042998	chr12:30549221-30583230	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs869416	TSPAN11	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30567000-30572000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:30567000-30572200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:30567000-30572400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:30567400-30574000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:30569800-30571600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:30569800-30571600	Enhancers	HSMM	muscle
7	chr12:30569800-30572000	Enhancers	NH-A	brain
8	chr12:30570000-30572400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:30571000-30571600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:30571000-30572000	Weak transcription	Brain Germinal Matrix	brain
11	chr12:30571000-30573400	Weak transcription	HUVEC	blood vessel
12	chr12:30571200-30571800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:30571200-30571800	Enhancers	Osteobl	bone
14	chr12:30571200-30572200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:30571200-30572400	Enhancers	HMEC	breast
16	chr12:30571200-30572400	Enhancers	NHEK	skin
17	chr12:30571200-30572600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:30571200-30573400	Weak transcription	Hela-S3	cervix
19	chr12:30571400-30571600	Enhancers	NHLF	lung
20	chr12:30571400-30571800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:30571400-30572400	Enhancers	NHDF-Ad	bronchial

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