Variant report

Variant	rs10806133
Chromosome Location	chr6:79316230-79316231
allele	C/T
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	EP300	chr6:79315583-79316238	SK-N-SH	brain:	n/a	n/a
2	NFIC	chr6:79315382-79316230	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000230309	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1012026	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1012027	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10455349	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10943547	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10943548	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10943549	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12197137	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12201840	0.93[ASN][1000 genomes]
rs12209692	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12210711	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12213548	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12530353	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12530368	0.89[ASN][1000 genomes]
rs1395446	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1395447	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1407102	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1567095	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1567096	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1567097	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570075	0.96[ASN][1000 genomes]
rs16890224	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs16890230	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1995650	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.84[MKK][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2063045	0.95[ASN][1000 genomes]
rs2202588	0.82[ASN][1000 genomes]
rs2321764	0.94[ASN][1000 genomes]
rs236852	0.88[ASN][1000 genomes]
rs236853	0.95[ASN][1000 genomes]
rs236855	0.94[ASN][1000 genomes]
rs236859	0.95[ASN][1000 genomes]
rs236882	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs236884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs236886	0.96[ASN][1000 genomes]
rs5018093	0.94[ASN][1000 genomes]
rs699182	0.96[ASN][1000 genomes]
rs717364	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7755578	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7763429	0.87[ASN][1000 genomes]
rs9361413	0.87[ASN][1000 genomes]
rs9361414	0.87[ASN][1000 genomes]
rs984157	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886235	chr6:78861808-79369972	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv604011	chr6:79042990-79455282	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv886300	chr6:79129963-79341891	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv522646	chr6:79185106-79333988	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1028767	chr6:79200713-79341224	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10806133	NBEA	trans	lymphoblastoid	seeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79309800-79324800	Weak transcription	Aorta	Aorta
2	chr6:79313600-79316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:79315200-79317400	Enhancers	Hela-S3	cervix
4	chr6:79315600-79317600	Enhancers	NHLF	lung
5	chr6:79315800-79316600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:79315800-79316600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:79315800-79317000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:79315800-79317400	Enhancers	HMEC	breast
9	chr6:79315800-79317400	Enhancers	NHEK	skin
10	chr6:79315800-79318200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:79315800-79318200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:79316000-79316400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:79316000-79316400	Weak transcription	HSMMtube	muscle
14	chr6:79316000-79318200	Enhancers	HSMM	muscle
15	chr6:79316200-79316400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:79316200-79317400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:79316200-79318000	Enhancers	HUVEC	blood vessel
18	chr6:79316200-79318000	Enhancers	NH-A	brain
19	chr6:79316200-79318200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:79316200-79318200	Enhancers	NHDF-Ad	bronchial
21	chr6:79316200-79318400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:79316200-79318400	Enhancers	Osteobl	bone
23	chr6:79316200-79321800	Weak transcription	A549	lung

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