Variant report

Variant	rs7138257
Chromosome Location	chr12:123363562-123363563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123363372..123365357-chr12:123379648..123382097,2	MCF-7	breast:
2	chr12:123356727..123361663-chr12:123362714..123365634,4	K562	blood:
3	chr12:123361905..123363893-chr12:123371746..123374359,2	MCF-7	breast:
4	chr12:123362099..123364653-chr12:123375458..123377701,2	K562	blood:
5	chr12:123359999..123363082-chr12:123363364..123366412,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139722	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

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[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[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];1.00[YRI][hapmap];1.00[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[JPT][hapmap]
rs10848363	1.00[JPT][hapmap]
rs10848365	1.00[JPT][hapmap]
rs11059729	0.86[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[JPT][hapmap]
rs11060999	1.00[JPT][hapmap]
rs11610441	1.00[MEX][hapmap]
rs12311043	1.00[JPT][hapmap]
rs1260121	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[MKK][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[JPT][hapmap]
rs1696327	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1798563	1.00[JPT][hapmap]
rs1975761	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[MEX][hapmap];1.00[MKK][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]
rs2271048	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
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[JPT][hapmap]
rs2649896	1.00[JPT][hapmap]
rs2649903	1.00[JPT][hapmap]
rs2649904	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2656812	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];0.81[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];0.81[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[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759438	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]
rs651683	1.00[JPT][hapmap]
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[MEX][hapmap];1.00[MKK][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]
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[JPT][hapmap]
rs897384	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs897388	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[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:6 , 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	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123355800-123363600	Weak transcription	Dnd41	blood
2	chr12:123356200-123368600	Weak transcription	Hela-S3	cervix
3	chr12:123356600-123364200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:123356800-123363600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:123356800-123369200	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr12:123356800-123370000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:123357000-123365600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:123357000-123369800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:123357000-123373000	Weak transcription	Aorta	Aorta
10	chr12:123357200-123363800	Weak transcription	K562	blood
11	chr12:123357200-123365200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:123358200-123367200	Weak transcription	HUVEC	blood vessel
13	chr12:123358800-123371400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:123359000-123365000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:123359000-123365200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:123359000-123368400	Weak transcription	Fetal Intestine Large	intestine
17	chr12:123359000-123369600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:123359400-123366000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:123359600-123365000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr12:123359600-123366200	Enhancers	Right Atrium	heart
21	chr12:123360200-123363600	Strong transcription	Fetal Intestine Small	intestine
22	chr12:123360400-123363600	Weak transcription	Gastric	stomach
23	chr12:123360400-123363800	Weak transcription	Colonic Mucosa	Colon
24	chr12:123360400-123365400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:123360600-123363600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:123360800-123363600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:123360800-123364200	Weak transcription	Brain Anterior Caudate	brain
28	chr12:123360800-123364600	Enhancers	Spleen	Spleen
29	chr12:123360800-123364800	Weak transcription	Brain Angular Gyrus	brain
30	chr12:123360800-123364800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:123360800-123368800	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:123361200-123365400	Genic enhancers	Lung	lung
33	chr12:123361200-123365600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr12:123361400-123364000	Weak transcription	Brain Substantia Nigra	brain
35	chr12:123361400-123365400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr12:123361600-123363600	Weak transcription	Right Ventricle	heart
37	chr12:123361600-123363800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:123361600-123363800	Weak transcription	Fetal Brain Female	brain
39	chr12:123361600-123364800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:123361600-123365000	Weak transcription	NHDF-Ad	bronchial
41	chr12:123361600-123365200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
42	chr12:123361600-123365200	Weak transcription	Fetal Brain Male	brain
43	chr12:123361600-123365600	Genic enhancers	Primary B cells from peripheral blood	blood
44	chr12:123361800-123363600	Weak transcription	Fetal Heart	heart
45	chr12:123361800-123363800	Enhancers	Primary hematopoietic stem cells	blood
46	chr12:123361800-123363800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:123361800-123364000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:123361800-123364200	Weak transcription	Osteobl	bone
49	chr12:123361800-123364400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr12:123361800-123364800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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