Variant report

Variant	rs386736
Chromosome Location	chr3:156513408-156513409
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:156511443..156514297-chr3:156542568..156546057,3	K562	blood:
2	chr3:156512318..156515749-chr3:156532342..156535718,6	MCF-7	breast:
3	chr3:156506437..156508215-chr3:156511919..156513622,2	K562	blood:
4	chr3:156511539..156515670-chr3:156534047..156537990,6	MCF-7	breast:
5	chr3:156513155..156515198-chr3:156521079..156523360,2	K562	blood:

Variant related genes	Relation type
ENSG00000197980	Chromatin interaction
ENSG00000240875	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11914959	0.82[JPT][hapmap]
rs12497777	0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13063433	0.83[ASN][1000 genomes]
rs1319418	0.82[JPT][hapmap]
rs1367311	0.83[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap]
rs168247	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs17380702	0.81[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs17380954	0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs184695	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs193197	1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap]
rs2054880	0.96[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2321291	0.82[JPT][hapmap]
rs237250	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs343994	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs343999	0.86[ASN][1000 genomes]
rs344003	0.86[ASN][1000 genomes]
rs344027	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs344028	0.86[ASN][1000 genomes]
rs344034	0.86[ASN][1000 genomes]
rs345986	1.00[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap]
rs34901284	0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4234316	0.82[JPT][hapmap]
rs7614210	0.83[AFR][1000 genomes]
rs9289971	0.83[CHB][hapmap];0.88[CHD][hapmap]
rs9871258	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9873307	0.86[ASN][1000 genomes]
rs9882795	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs9883439	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428745	chr3:156405054-156577840	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv877685	chr3:156444383-156611676	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv877686	chr3:156489509-156557697	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs386736	Hs.54543	cis	multi-tissue	Pritchard

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156502800-156528400	Weak transcription	Esophagus	oesophagus
2	chr3:156502800-156529000	Weak transcription	Liver	Liver
3	chr3:156504200-156516400	Weak transcription	Primary B cells from cord blood	blood
4	chr3:156507000-156513600	Weak transcription	Hela-S3	cervix
5	chr3:156510000-156513600	Enhancers	HepG2	liver
6	chr3:156510000-156513800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr3:156510000-156513800	Weak transcription	Fetal Intestine Small	intestine
8	chr3:156510000-156513800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr3:156510800-156514000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:156511000-156519600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:156511200-156513600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:156511200-156513600	Weak transcription	NHLF	lung
13	chr3:156511200-156513800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:156511200-156513800	Weak transcription	HUVEC	blood vessel
15	chr3:156511200-156515000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:156511200-156516600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr3:156511200-156529000	Weak transcription	Primary T cells from cord blood	blood
18	chr3:156511400-156513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:156511400-156513800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:156511400-156513800	Weak transcription	GM12878-XiMat	blood
21	chr3:156511400-156513800	Weak transcription	NHEK	skin
22	chr3:156511400-156518800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr3:156511400-156530400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:156511600-156513800	Weak transcription	Brain Substantia Nigra	brain
25	chr3:156511600-156514000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:156511600-156519600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:156511800-156514000	Weak transcription	HSMM	muscle
28	chr3:156512400-156513600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:156512600-156513800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:156512600-156513800	Weak transcription	Osteobl	bone
31	chr3:156513200-156514400	Enhancers	NHDF-Ad	bronchial
32	chr3:156513400-156514000	Enhancers	Stomach Mucosa	stomach
33	chr3:156513400-156514200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr3:156513400-156514200	Enhancers	A549	lung
35	chr3:156513400-156514400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:156513400-156514400	Enhancers	HMEC	breast

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