Variant report

Variant	rs4945586
Chromosome Location	chr6:117815020-117815021
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117802434..117806380-chr6:117812352..117817630,8	MCF-7	breast:
2	chr6:117814171..117818032-chr6:117819476..117821620,3	MCF-7	breast:
3	chr6:117813535..117815634-chr6:117852194..117854765,2	K562	blood:
4	chr6:117813405..117815886-chr6:117817206..117818721,2	MCF-7	breast:
5	chr6:117814039..117815836-chr6:117854850..117856525,2	MCF-7	breast:
6	chr6:117808865..117811811-chr6:117813306..117815684,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10782186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527127	0.99[ASN][1000 genomes]
rs2057314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2105907	0.86[ASN][1000 genomes]
rs2180811	0.86[CHB][hapmap]
rs2354346	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2883418	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34431655	0.81[ASN][1000 genomes]
rs34882116	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4946258	0.87[CHB][hapmap]
rs4946259	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs4946260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911915	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs6940922	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs929057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929058	0.96[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs9320604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9374662	0.84[CHB][hapmap]
rs9374663	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs9387479	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9387481	0.96[ASN][1000 genomes]
rs9481728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489213	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9688361	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4945586	DCBLD1	cis	Adipose Subcutaneous	GTEx
rs4945586	DCBLD1	cis	Thyroid	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117805200-117816000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:117805200-117819400	Weak transcription	Small Intestine	intestine
3	chr6:117805200-117825600	Weak transcription	Lung	lung
4	chr6:117805200-117826600	Weak transcription	Esophagus	oesophagus
5	chr6:117805200-117851200	Weak transcription	Right Ventricle	heart
6	chr6:117805400-117819400	Weak transcription	Aorta	Aorta
7	chr6:117805600-117818800	Weak transcription	Fetal Kidney	kidney
8	chr6:117805600-117819400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:117805800-117825600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:117805800-117826200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:117806200-117815400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:117806200-117816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:117806200-117819600	Weak transcription	Psoas Muscle	Psoas
14	chr6:117806200-117826400	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:117806200-117826600	Weak transcription	Pancreas	Pancrea
16	chr6:117806600-117817400	Weak transcription	HSMMtube	muscle
17	chr6:117806800-117815600	Weak transcription	Stomach Mucosa	stomach
18	chr6:117807000-117815200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:117808600-117819400	Weak transcription	Spleen	Spleen
20	chr6:117808600-117819600	Weak transcription	Fetal Stomach	stomach
21	chr6:117808800-117824400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:117808800-117826800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:117810400-117815800	Weak transcription	Fetal Intestine Small	intestine
24	chr6:117810600-117815400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:117811600-117815400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:117812200-117815400	Enhancers	NHDF-Ad	bronchial
27	chr6:117812400-117817400	Enhancers	HMEC	breast
28	chr6:117812400-117817800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:117812800-117815200	Enhancers	NHLF	lung
30	chr6:117812800-117820000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:117813000-117817400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:117813400-117815200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:117813600-117815400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:117813600-117815600	Enhancers	Osteobl	bone
35	chr6:117813600-117816400	Enhancers	Fetal Intestine Large	intestine
36	chr6:117813600-117820600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:117813800-117816000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:117813800-117817400	Enhancers	NH-A	brain
39	chr6:117814400-117820400	Enhancers	Fetal Lung	lung
40	chr6:117814600-117816200	Enhancers	Liver	Liver
41	chr6:117814800-117815400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:117814800-117815800	Genic enhancers	Muscle Satellite Cultured Cells	--
43	chr6:117814800-117815800	Active TSS	GM12878-XiMat	blood
44	chr6:117814800-117816000	Flanking Active TSS	HUVEC	blood vessel
45	chr6:117814800-117816400	Genic enhancers	HepG2	liver
46	chr6:117814800-117816400	Genic enhancers	HSMM	muscle
47	chr6:117814800-117816400	Enhancers	K562	blood
48	chr6:117814800-117817200	Enhancers	NHEK	skin
49	chr6:117815000-117815400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr6:117815000-117815800	Active TSS	A549	lung

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