Variant report

Variant	rs56317125
Chromosome Location	chr3:67668095-67668096
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10510965	0.82[EUR][1000 genomes]
rs11127657	0.80[EUR][1000 genomes]
rs11924268	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17046689	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2076913	0.85[EUR][1000 genomes]
rs2363091	0.80[EUR][1000 genomes]
rs2885692	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55662797	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55706427	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55780245	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55811928	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55871518	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55933747	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56149443	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56162614	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56291937	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56341400	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56411806	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57450793	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58637570	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59742261	0.80[EUR][1000 genomes]
rs60283689	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6765734	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6767025	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6798438	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6806897	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6810139	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72929333	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9683084	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9809720	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9824641	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9830311	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9871141	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9882327	1.00[ASN][1000 genomes]
rs9882828	0.82[EUR][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	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590561	chr3:67548852-67690626	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3359258	chr3:67589615-67828274	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv876922	chr3:67635506-67755257	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv428739	chr3:67656829-67730379	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67601800-67673000	Weak transcription	Fetal Heart	heart
2	chr3:67612400-67697200	Weak transcription	Hela-S3	cervix
3	chr3:67629200-67675000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:67631400-67700200	Weak transcription	K562	blood
5	chr3:67640200-67678000	Weak transcription	Small Intestine	intestine
6	chr3:67653400-67669800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:67653800-67671200	Weak transcription	Stomach Mucosa	stomach
8	chr3:67653800-67679600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:67658800-67672400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:67659600-67674200	Weak transcription	Right Ventricle	heart
11	chr3:67659600-67680800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:67659800-67670400	Weak transcription	Fetal Intestine Small	intestine
13	chr3:67659800-67680000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:67659800-67681000	Weak transcription	Spleen	Spleen
15	chr3:67659800-67684400	Weak transcription	Esophagus	oesophagus
16	chr3:67659800-67685600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:67659800-67690600	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:67659800-67697400	Weak transcription	Colonic Mucosa	Colon
19	chr3:67660000-67668600	Weak transcription	Fetal Stomach	stomach
20	chr3:67660000-67669200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:67660000-67669600	Weak transcription	Aorta	Aorta
22	chr3:67660000-67669800	Weak transcription	Adipose Nuclei	Adipose
23	chr3:67660000-67670000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:67660000-67670400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:67660000-67673200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr3:67660000-67680200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:67660000-67685600	Weak transcription	HSMMtube	muscle
28	chr3:67660000-67686000	Weak transcription	Gastric	stomach
29	chr3:67660000-67697200	Weak transcription	Lung	lung
30	chr3:67660000-67697400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr3:67660200-67673200	Weak transcription	Fetal Thymus	thymus
32	chr3:67660200-67678200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:67660200-67680000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr3:67660400-67677800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:67660400-67680200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:67660600-67671200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:67660600-67691600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:67661200-67685800	Weak transcription	Pancreas	Pancrea
39	chr3:67661200-67704000	Weak transcription	Fetal Kidney	kidney
40	chr3:67661400-67668800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr3:67661400-67685200	Weak transcription	NHLF	lung
42	chr3:67661400-67699400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr3:67661400-67700000	Weak transcription	Ovary	ovary
44	chr3:67661400-67701000	Weak transcription	Fetal Lung	lung
45	chr3:67661400-67704000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:67661600-67668600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:67661600-67684600	Weak transcription	Osteobl	bone
48	chr3:67661600-67685200	Weak transcription	NHEK	skin
49	chr3:67661600-67703600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr3:67662600-67693000	Weak transcription	HepG2	liver

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