Variant report

Variant	rs345503
Chromosome Location	chr4:79220392-79220393
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10028072	1.00[ASN][1000 genomes]
rs1017646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[ASN][1000 genomes]
rs1017647	1.00[ASN][1000 genomes]
rs1017648	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[YRI][hapmap];1.00[ASN][1000 genomes]
rs1017650	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[YRI][hapmap];1.00[ASN][1000 genomes]
rs1017651	1.00[ASN][1000 genomes]
rs11098114	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11098131	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11941234	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13118323	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1378237	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1378238	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1454894	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1454895	0.95[ASN][1000 genomes]
rs1454900	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1454901	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1580105	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17003069	0.95[ASN][1000 genomes]
rs17003070	0.95[ASN][1000 genomes]
rs17003071	0.95[ASN][1000 genomes]
rs17003092	1.00[ASN][1000 genomes]
rs17003108	1.00[ASN][1000 genomes]
rs1823921	0.95[ASN][1000 genomes]
rs1840390	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1840393	1.00[ASN][1000 genomes]
rs1952400	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1999053	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2008587	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2013764	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2013770	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[ASN][1000 genomes]
rs2045169	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2124145	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs2225198	1.00[ASN][1000 genomes]
rs2867014	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28803795	0.82[ASN][1000 genomes]
rs28806931	0.82[ASN][1000 genomes]
rs345506	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs345528	0.82[ASN][1000 genomes]
rs4859919	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4859921	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4859922	1.00[ASN][1000 genomes]
rs60544673	0.95[ASN][1000 genomes]
rs60608669	0.82[ASN][1000 genomes]
rs60862246	0.91[ASN][1000 genomes]
rs61283188	1.00[ASN][1000 genomes]
rs6533564	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6814182	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6820900	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6822551	1.00[ASN][1000 genomes]
rs6822773	0.95[ASN][1000 genomes]
rs6846166	1.00[ASN][1000 genomes]
rs6847377	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6850956	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6855457	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72862191	0.95[ASN][1000 genomes]
rs72862196	0.95[ASN][1000 genomes]
rs72864511	0.91[ASN][1000 genomes]
rs72864520	1.00[ASN][1000 genomes]
rs72864521	1.00[ASN][1000 genomes]
rs72864564	1.00[ASN][1000 genomes]
rs72864567	1.00[ASN][1000 genomes]
rs72864571	1.00[ASN][1000 genomes]
rs72864577	1.00[ASN][1000 genomes]
rs72864587	1.00[ASN][1000 genomes]
rs72866312	0.82[ASN][1000 genomes]
rs7438056	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7667670	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs967635	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv818246	chr4:79184338-79221851	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3337729	chr4:79218428-79220476	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79198600-79221000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:79198600-79241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:79208400-79220800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:79208400-79229200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:79208800-79236800	Weak transcription	Fetal Intestine Large	intestine
6	chr4:79214000-79223400	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:79215600-79223000	Weak transcription	Fetal Brain Male	brain
8	chr4:79215600-79229200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:79215800-79237600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:79215800-79243800	Weak transcription	Right Ventricle	heart
11	chr4:79217200-79222200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:79217600-79222200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:79217800-79221400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:79218000-79224600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:79218200-79220800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:79218200-79222800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:79218600-79220800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:79218600-79221200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:79218600-79221200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:79218600-79221200	Enhancers	Osteobl	bone
21	chr4:79218600-79221400	Enhancers	NHDF-Ad	bronchial
22	chr4:79218600-79229200	Weak transcription	Fetal Stomach	stomach
23	chr4:79218600-79230000	Weak transcription	Fetal Kidney	kidney
24	chr4:79219000-79220400	Weak transcription	Aorta	Aorta
25	chr4:79219000-79220600	Weak transcription	GM12878-XiMat	blood
26	chr4:79219000-79220600	Enhancers	HSMM	muscle
27	chr4:79219000-79221200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:79219200-79221800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:79219600-79220400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:79219600-79220600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:79219600-79220800	Enhancers	NH-A	brain
32	chr4:79219600-79220800	Enhancers	NHLF	lung
33	chr4:79219600-79221000	Enhancers	Hela-S3	cervix
34	chr4:79219600-79221200	Enhancers	Fetal Lung	lung
35	chr4:79219600-79221600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:79219800-79220400	Enhancers	NHEK	skin
37	chr4:79219800-79220600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:79219800-79220800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:79219800-79221000	Enhancers	Fetal Heart	heart
40	chr4:79219800-79221200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr4:79220000-79220400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr4:79220000-79220400	Enhancers	HMEC	breast
43	chr4:79220000-79220600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:79220000-79221200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:79220000-79228200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr4:79220200-79220400	Enhancers	Fetal Muscle Leg	muscle
47	chr4:79220200-79220400	Enhancers	Psoas Muscle	Psoas
48	chr4:79220200-79220600	Enhancers	A549	lung
49	chr4:79220200-79220600	Enhancers	HSMMtube	muscle
50	chr4:79220200-79220800	Enhancers	Fetal Intestine Small	intestine

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