Variant report

Variant	rs6984115
Chromosome Location	chr8:11336283-11336284
allele	A/C
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	EBF1	chr8:11336191-11336446	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
FAM167A	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11775640	1.00[ASN][1000 genomes]
rs11775779	1.00[ASN][1000 genomes]
rs11776834	1.00[ASN][1000 genomes]
rs11778177	1.00[ASN][1000 genomes]
rs11780432	1.00[ASN][1000 genomes]
rs11780980	1.00[ASN][1000 genomes]
rs11781057	1.00[ASN][1000 genomes]
rs11781400	1.00[ASN][1000 genomes]
rs11784016	1.00[ASN][1000 genomes]
rs11784897	1.00[ASN][1000 genomes]
rs11787413	1.00[ASN][1000 genomes]
rs12156238	1.00[ASN][1000 genomes]
rs13280447	1.00[ASN][1000 genomes]
rs13281992	1.00[ASN][1000 genomes]
rs13439415	1.00[ASN][1000 genomes]
rs13439487	1.00[ASN][1000 genomes]
rs17807523	1.00[ASN][1000 genomes]
rs2409776	1.00[ASN][1000 genomes]
rs2409777	1.00[ASN][1000 genomes]
rs2409779	1.00[ASN][1000 genomes]
rs28485693	1.00[ASN][1000 genomes]
rs28680779	1.00[ASN][1000 genomes]
rs34281672	1.00[ASN][1000 genomes]
rs34365278	1.00[ASN][1000 genomes]
rs34443092	1.00[ASN][1000 genomes]
rs34906655	1.00[ASN][1000 genomes]
rs35451013	1.00[ASN][1000 genomes]
rs35619722	1.00[ASN][1000 genomes]
rs35822699	1.00[ASN][1000 genomes]
rs36043848	1.00[ASN][1000 genomes]
rs4606022	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4840570	1.00[ASN][1000 genomes]
rs4841541	1.00[ASN][1000 genomes]
rs4841548	1.00[ASN][1000 genomes]
rs4841560	1.00[ASN][1000 genomes]
rs4841571	1.00[ASN][1000 genomes]
rs56302795	1.00[ASN][1000 genomes]
rs57526558	1.00[ASN][1000 genomes]
rs66617246	1.00[ASN][1000 genomes]
rs67390008	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823274	1.00[ASN][1000 genomes]
rs7831369	1.00[ASN][1000 genomes]
rs7831885	1.00[ASN][1000 genomes]
rs936546	1.00[ASN][1000 genomes]
rs9650624	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6984115	BLK	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11332600-11336400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:11332600-11336600	Weak transcription	NHDF-Ad	bronchial
3	chr8:11332600-11337400	Weak transcription	Fetal Thymus	thymus
4	chr8:11332800-11337000	Weak transcription	HMEC	breast
5	chr8:11332800-11337000	Weak transcription	Osteobl	bone
6	chr8:11332800-11337200	Weak transcription	Lung	lung
7	chr8:11332800-11337200	Weak transcription	HUVEC	blood vessel
8	chr8:11332800-11337600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:11332800-11337800	Weak transcription	NHLF	lung
10	chr8:11332800-11338000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr8:11332800-11338200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr8:11333000-11337800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:11333000-11337800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:11333400-11337000	Weak transcription	NH-A	brain
15	chr8:11333600-11337000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:11333600-11337000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:11333600-11337000	Weak transcription	A549	lung
18	chr8:11333600-11337200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:11333600-11337200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:11333600-11337200	Weak transcription	HSMMtube	muscle
21	chr8:11333800-11337000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:11333800-11337200	Weak transcription	HSMM	muscle
23	chr8:11334200-11336400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:11334200-11337200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:11334800-11339400	Weak transcription	Esophagus	oesophagus
26	chr8:11335000-11337400	Weak transcription	Placenta	Placenta
27	chr8:11335000-11338400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:11335200-11336400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:11336000-11339800	Enhancers	NHEK	skin
30	chr8:11336200-11336800	Enhancers	Primary B cells from cord blood	blood
31	chr8:11336200-11337400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:11336200-11337400	Enhancers	GM12878-XiMat	blood
33	chr8:11336200-11339400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:11336200-11343200	Enhancers	Primary B cells from peripheral blood	blood

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