Variant report

Variant	rs13257831
Chromosome Location	chr8:11332964-11332965
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr8:11331590-11332994	IMR90	lung:	n/a	chr8:11332728-11332738

No.	Distal block	Cell Line	Cell type
1	chr8:11322451..11325795-chr8:11329496..11335044,6	MCF-7	breast:
2	chr8:11331911..11334130-chr8:11408479..11410507,2	MCF-7	breast:
3	chr8:11324323..11327573-chr8:11332545..11335174,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf12-1	chr8:11332959-11333129	ucscGeneNc_uc003wtu_2

Variant related genes	Relation type
FAM167A	TF binding region
ENSG00000154319	Chromatin interaction
ENSG00000269954	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs11250139	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs13257831	BLK	cis	multi-tissue	Pritchard
rs13257831	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs13257831	C8orf13	cis	multi-tissue	Pritchard
rs13257831	LOC100129129	cis	brain	BrainEAC
rs13257831	C8orf13	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11325200-11335000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:11330200-11333600	Enhancers	Stomach Mucosa	stomach
3	chr8:11331000-11334000	Enhancers	Placenta	Placenta
4	chr8:11331600-11333600	Enhancers	HSMMtube	muscle
5	chr8:11331800-11333000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:11332000-11333000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr8:11332200-11333600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:11332200-11333600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:11332200-11333600	Enhancers	A549	lung
10	chr8:11332200-11333800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:11332200-11333800	Enhancers	HSMM	muscle
12	chr8:11332200-11334200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:11332200-11335200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:11332400-11333600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:11332400-11333800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:11332400-11335000	Enhancers	Gastric	stomach
17	chr8:11332600-11333000	Enhancers	NHEK	skin
18	chr8:11332600-11333400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:11332600-11333600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:11332600-11334000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:11332600-11334000	Weak transcription	Esophagus	oesophagus
22	chr8:11332600-11335000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:11332600-11336400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:11332600-11336600	Weak transcription	NHDF-Ad	bronchial
25	chr8:11332600-11337400	Weak transcription	Fetal Thymus	thymus
26	chr8:11332800-11333200	Weak transcription	NH-A	brain
27	chr8:11332800-11337000	Weak transcription	HMEC	breast
28	chr8:11332800-11337000	Weak transcription	Osteobl	bone
29	chr8:11332800-11337200	Weak transcription	Lung	lung
30	chr8:11332800-11337200	Weak transcription	HUVEC	blood vessel
31	chr8:11332800-11337600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:11332800-11337800	Weak transcription	NHLF	lung
33	chr8:11332800-11338000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr8:11332800-11338200	Weak transcription	Monocytes-CD14+_RO01746	blood

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