Variant report

Variant	rs4759438
Chromosome Location	chr12:123347702-123347703
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1026395	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1037593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744394	0.88[EUR][1000 genomes]
rs10744439	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10773599	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10847742	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10847749	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10847751	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10847775	1.00[JPT][hapmap]
rs10847910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10848148	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10848363	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10848365	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11059729	0.87[CEU][hapmap]
rs11060152	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11060211	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11060932	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11060999	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12311043	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1260121	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1671684	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1671686	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1671687	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1696327	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1696355	1.00[CHB][hapmap]
rs1798563	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1975761	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2061099	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271048	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2292140	1.00[YRI][hapmap]
rs2343107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649895	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2649896	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2649900	1.00[CHB][hapmap]
rs2649903	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2649904	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2656812	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3844369	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4307760	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4759351	0.96[EUR][1000 genomes]
rs4759352	0.96[EUR][1000 genomes]
rs4759353	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4759354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4759384	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759388	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651683	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7138257	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298176	1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306047	0.88[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7485652	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957643	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7958155	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs839354	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs897384	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs897388	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs937765	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs967281	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9795629	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv899574	chr12:123316566-123360151	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv899575	chr12:123326374-123360151	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123322800-123353000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:123323200-123352000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:123324600-123352800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:123324800-123351600	Weak transcription	Small Intestine	intestine
5	chr12:123327400-123352600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:123327600-123353400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:123329200-123355000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:123330400-123349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:123332600-123355600	Strong transcription	Thymus	Thymus
10	chr12:123337200-123348800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:123337400-123348400	Weak transcription	HSMM	muscle
12	chr12:123337400-123356200	Weak transcription	Fetal Kidney	kidney
13	chr12:123337600-123348200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:123337600-123351000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:123337600-123351400	Weak transcription	HSMMtube	muscle
16	chr12:123337800-123351600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:123338400-123350400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:123338400-123351000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:123338800-123354200	Strong transcription	Brain Germinal Matrix	brain
20	chr12:123339000-123353200	Weak transcription	K562	blood
21	chr12:123339200-123354200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:123339600-123354200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:123339600-123355000	Strong transcription	Fetal Brain Female	brain
24	chr12:123341000-123348200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:123341200-123350800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:123341200-123352200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:123341800-123349000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:123342200-123347800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:123342200-123350200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:123342400-123348800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:123344000-123349200	Strong transcription	Primary T cells from cord blood	blood
32	chr12:123344200-123348200	Genic enhancers	Pancreas	Pancrea
33	chr12:123344400-123348000	Genic enhancers	Spleen	Spleen
34	chr12:123344400-123348400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr12:123344400-123350600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:123344400-123351600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr12:123344400-123355000	Genic enhancers	Primary B cells from peripheral blood	blood
38	chr12:123344600-123348400	Enhancers	Adipose Nuclei	Adipose
39	chr12:123344600-123348400	Genic enhancers	Esophagus	oesophagus
40	chr12:123344600-123350600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:123344600-123350800	Weak transcription	Aorta	Aorta
42	chr12:123344600-123353000	Enhancers	Liver	Liver
43	chr12:123344800-123355200	Weak transcription	Hela-S3	cervix
44	chr12:123345000-123348200	Enhancers	Left Ventricle	heart
45	chr12:123345000-123348600	Genic enhancers	Fetal Intestine Large	intestine
46	chr12:123345000-123353600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:123345200-123348600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr12:123345200-123349000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:123345200-123349000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr12:123345200-123352600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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