Variant report

Variant	rs12695286
Chromosome Location	chr3:112816746-112816747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6782826	0.82[AMR][1000 genomes]
rs7646997	0.92[ASN][1000 genomes]
rs9288968	1.00[ASN][1000 genomes]
rs9811423	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv877344	chr3:112789865-112854339	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12695286	TMPRSS7	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112784800-112824000	Weak transcription	Primary B cells from cord blood	blood
2	chr3:112808800-112832400	Weak transcription	Primary T cells from cord blood	blood
3	chr3:112813600-112816800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:112814600-112816800	Enhancers	A549	lung
5	chr3:112814600-112817600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:112814600-112818200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:112814600-112818200	Enhancers	HMEC	breast
8	chr3:112814800-112817600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:112814800-112817800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:112814800-112818000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:112815000-112817800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:112815000-112818000	Enhancers	Osteobl	bone
13	chr3:112815200-112817800	Enhancers	NH-A	brain
14	chr3:112815400-112816800	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:112815400-112818000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:112815400-112822400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:112815600-112822400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:112815800-112817200	Enhancers	Adipose Nuclei	Adipose
19	chr3:112816000-112816800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:112816000-112818200	Enhancers	NHEK	skin
21	chr3:112816200-112821600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr3:112816200-112821800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:112816200-112822000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:112816400-112817400	Enhancers	NHLF	lung
25	chr3:112816400-112817800	Enhancers	NHDF-Ad	bronchial
26	chr3:112816600-112817600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:112816600-112818000	Enhancers	HSMM	muscle
28	chr3:112816600-112818200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:112816600-112818200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:112816600-112818400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr3:112816600-112818400	Enhancers	Placenta Amnion	Placenta Amnion
32	chr3:112816600-112818800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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