Variant report

Variant	rs4683147
Chromosome Location	chr3:45948264-45948265
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:45948084..45950746-chr3:45951152..45952829,2	K562	blood:
2	chr3:45802251..45804288-chr3:45947027..45949509,2	K562	blood:
3	chr3:45802238..45803753-chr3:45947987..45949013,6	K562	blood:
4	chr3:45947295..45949529-chr3:45954537..45956111,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1072755	0.82[CEU][hapmap]
rs12495073	0.83[CEU][hapmap]
rs12630101	0.82[CEU][hapmap]
rs13066048	0.83[CEU][hapmap]
rs1488371	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs1552489	0.82[CEU][hapmap]
rs1860264	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs2054866	0.82[CEU][hapmap]
rs2248228	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs2291470	0.82[EUR][1000 genomes]
rs28501674	0.80[ASN][1000 genomes]
rs34549672	0.96[ASN][1000 genomes]
rs34847985	0.80[ASN][1000 genomes]
rs3733103	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs3774634	0.83[CEU][hapmap]
rs3774639	0.82[CEU][hapmap]
rs4535265	0.82[CEU][hapmap]
rs4683148	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs4683157	0.83[CEU][hapmap]
rs56058226	0.86[EUR][1000 genomes]
rs57295094	0.80[ASN][1000 genomes]
rs57527954	0.96[ASN][1000 genomes]
rs61565453	0.80[ASN][1000 genomes]
rs62245098	0.80[ASN][1000 genomes]
rs62245102	0.81[ASN][1000 genomes]
rs6441930	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs6441932	0.88[ASN][1000 genomes]
rs6441933	0.96[ASN][1000 genomes]
rs6791859	0.81[ASN][1000 genomes]
rs6798047	0.88[ASN][1000 genomes]
rs7129	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs7613548	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7614342	0.80[CHB][hapmap]
rs875890	0.80[ASN][1000 genomes]
rs875891	0.80[ASN][1000 genomes]
rs936938	0.83[CEU][hapmap]
rs9831315	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs9834860	0.96[ASN][1000 genomes]
rs9852270	0.87[ASN][1000 genomes]
rs9862611	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[ASN][1000 genomes]
rs9868455	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45925200-45949600	Weak transcription	Pancreas	Pancrea
2	chr3:45932400-45960200	Weak transcription	Fetal Intestine Small	intestine
3	chr3:45934000-45960200	Weak transcription	Right Ventricle	heart
4	chr3:45936600-45950200	Genic enhancers	Fetal Thymus	thymus
5	chr3:45938600-45949000	Weak transcription	Small Intestine	intestine
6	chr3:45940000-45959800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:45941200-45952400	Weak transcription	Psoas Muscle	Psoas
8	chr3:45941400-45960000	Weak transcription	Adipose Nuclei	Adipose
9	chr3:45943000-45961000	Weak transcription	Brain Substantia Nigra	brain
10	chr3:45943200-45950800	Genic enhancers	Thymus	Thymus
11	chr3:45943600-45961200	Weak transcription	Gastric	stomach
12	chr3:45945400-45948600	Enhancers	Primary B cells from peripheral blood	blood
13	chr3:45945800-45948400	Enhancers	Spleen	Spleen
14	chr3:45946200-45956800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:45946200-45960400	Weak transcription	Aorta	Aorta
16	chr3:45946600-45950000	ZNF genes & repeats	GM12878-XiMat	blood
17	chr3:45947000-45949000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:45947000-45960200	Weak transcription	Lung	lung
19	chr3:45947600-45948800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr3:45947800-45948800	Enhancers	HSMM	muscle
21	chr3:45947800-45948800	Enhancers	HSMMtube	muscle
22	chr3:45947800-45949000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr3:45947800-45949200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:45947800-45949400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:45947800-45949800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:45947800-45949800	Enhancers	NH-A	brain
27	chr3:45947800-45950000	Enhancers	NHDF-Ad	bronchial
28	chr3:45947800-45950200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:45947800-45950200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:45947800-45950200	Enhancers	Duodenum Mucosa	Duodenum
31	chr3:45947800-45956800	Transcr. at gene 5' and 3'	Dnd41	blood
32	chr3:45948000-45949600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:45948000-45949800	Enhancers	NHLF	lung
34	chr3:45948000-45950000	Weak transcription	Primary B cells from cord blood	blood
35	chr3:45948000-45950000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:45948000-45950000	Enhancers	Osteobl	bone
37	chr3:45948000-45950200	Enhancers	Placenta	Placenta
38	chr3:45948200-45948400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr3:45948200-45948400	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr3:45948200-45948600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr3:45948200-45948800	Weak transcription	Primary T cells from cord blood	blood
42	chr3:45948200-45948800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr3:45948200-45949200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:45948200-45949800	Enhancers	Fetal Stomach	stomach
45	chr3:45948200-45949800	Enhancers	Stomach Mucosa	stomach
46	chr3:45948200-45961000	Weak transcription	Rectal Smooth Muscle	rectum

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