Variant report

Variant	rs9387478
Chromosome Location	chr6:117786180-117786181
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117779599..117781620-chr6:117784627..117786769,2	K562	blood:
2	chr6:117785808..117787348-chr6:117789977..117791969,2	K562	blood:
3	chr6:117784575..117787348-chr6:117789977..117792089,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10782186	0.83[CHB][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap]
rs1321798	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs1321799	0.96[CEU][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs1321802	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs1321803	0.81[ASW][hapmap];0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs1321815	0.90[EUR][1000 genomes]
rs1321816	0.89[EUR][1000 genomes]
rs1407179	0.81[ASW][hapmap];0.84[CEU][hapmap]
rs1407184	0.85[JPT][hapmap]
rs1407185	0.85[EUR][1000 genomes]
rs1853148	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2057314	0.83[CHB][hapmap];0.80[AMR][1000 genomes]
rs2180811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2243	0.85[JPT][hapmap]
rs2243378	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs2243379	0.81[ASW][hapmap]
rs2273602	0.96[CEU][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs2354346	0.82[AMR][1000 genomes]
rs2883418	0.81[AMR][1000 genomes]
rs34882116	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3777981	0.96[CEU][hapmap];0.82[CHB][hapmap];0.86[GIH][hapmap];0.90[LWK][hapmap];0.85[MKK][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs3798390	0.85[EUR][1000 genomes]
rs3798393	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs3798394	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs4945584	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4945586	0.83[CHB][hapmap]
rs4946254	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4946256	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4946260	0.83[CHB][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes]
rs6911915	0.83[CHB][hapmap]
rs6937083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6940922	0.82[AMR][1000 genomes]
rs6941337	0.89[ASN][1000 genomes]
rs765516	0.96[CEU][hapmap];0.85[GIH][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs7770923	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7771211	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7771271	0.85[EUR][1000 genomes]
rs7771637	0.85[EUR][1000 genomes]
rs7772046	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7776244	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs929057	0.83[CHB][hapmap]
rs9320604	0.83[CHB][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes]
rs9372480	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9374658	0.85[JPT][hapmap]
rs9374662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9374663	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9385012	0.85[EUR][1000 genomes]
rs9385013	0.84[EUR][1000 genomes]
rs9387479	0.82[AMR][1000 genomes]
rs9401006	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs9401007	0.85[EUR][1000 genomes]
rs9481728	0.83[CHB][hapmap];0.80[AMR][1000 genomes]
rs9489150	0.81[EUR][1000 genomes]
rs9489152	0.89[CEU][hapmap];0.83[TSI][hapmap]
rs9489213	0.80[AMR][1000 genomes]
rs9688361	0.80[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Lung cancer	23143601	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9387478	DCBLD1	cis	Adipose Subcutaneous	GTEx
rs9387478	DCBLD1	cis	Thyroid	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117784800-117786200	Enhancers	NHLF	lung
2	chr6:117784800-117786400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:117784800-117786400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:117785000-117786600	Enhancers	HMEC	breast
5	chr6:117785200-117786200	Enhancers	NHDF-Ad	bronchial
6	chr6:117785200-117786400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:117785400-117786200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:117785400-117786200	Enhancers	A549	lung
9	chr6:117785400-117790000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:117785600-117786200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:117785600-117786200	Enhancers	HSMM	muscle
12	chr6:117785600-117786400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:117785600-117786400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:117785600-117786400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:117785600-117786600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:117785600-117786600	Enhancers	NH-A	brain
17	chr6:117785600-117786600	Enhancers	NHEK	skin
18	chr6:117785600-117786600	Enhancers	Osteobl	bone
19	chr6:117785600-117787000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:117786000-117787200	Enhancers	HUVEC	blood vessel

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