Variant report

Variant	rs7964715
Chromosome Location	chr12:32676652-32676653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10506090	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10506093	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10771960	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10771961	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10771962	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10844222	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10844223	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10844224	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10844226	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10844227	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844228	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844229	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10844230	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844231	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844232	0.98[ASN][1000 genomes]
rs10844234	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052040	0.98[ASN][1000 genomes]
rs11052041	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052042	0.96[ASN][1000 genomes]
rs11052046	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052052	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11052053	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608343	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12366886	0.98[ASN][1000 genomes]
rs1500875	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1500876	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17536908	0.89[ASN][1000 genomes]
rs2036266	0.89[ASN][1000 genomes]
rs2133943	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2133944	0.89[ASN][1000 genomes]
rs4105685	0.93[ASN][1000 genomes]
rs4520681	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928965	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7308163	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73092002	0.93[ASN][1000 genomes]
rs73094103	0.93[ASN][1000 genomes]
rs7953022	0.98[ASN][1000 genomes]
rs7962342	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7967306	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7967702	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970857	0.98[ASN][1000 genomes]
rs7974089	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7977101	0.98[ASN][1000 genomes]
rs7980571	0.98[ASN][1000 genomes]

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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv898970	chr12:32622097-32680236	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32655200-32686000	Weak transcription	Lung	lung
2	chr12:32656400-32685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:32658600-32682000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:32666600-32685200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:32668200-32685800	Weak transcription	Gastric	stomach
6	chr12:32668400-32678000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:32668400-32702600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:32668800-32686600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:32669800-32687000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:32671600-32686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:32672800-32677200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:32674200-32677200	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:32674400-32677200	Enhancers	Primary B cells from cord blood	blood
14	chr12:32674400-32677200	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:32675200-32676800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:32675600-32676800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr12:32675600-32678000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:32675600-32679000	Weak transcription	Fetal Intestine Small	intestine
19	chr12:32675800-32677000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:32675800-32677000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:32675800-32678000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:32675800-32678000	Weak transcription	Fetal Intestine Large	intestine
23	chr12:32675800-32685400	Weak transcription	Fetal Brain Female	brain
24	chr12:32676000-32678000	Weak transcription	Fetal Heart	heart
25	chr12:32676000-32683200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:32676000-32684600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:32676000-32685400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:32676000-32686800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:32676200-32677200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:32676200-32677400	Weak transcription	Ovary	ovary
31	chr12:32676200-32677600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:32676200-32678000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:32676200-32678000	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:32676200-32678000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:32676200-32683200	Weak transcription	Liver	Liver
36	chr12:32676200-32683200	Weak transcription	Stomach Mucosa	stomach
37	chr12:32676200-32685400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:32676200-32685400	Weak transcription	HSMM	muscle
39	chr12:32676200-32685600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:32676200-32685800	Weak transcription	Aorta	Aorta
41	chr12:32676200-32685800	Weak transcription	Psoas Muscle	Psoas
42	chr12:32676200-32687000	Weak transcription	Left Ventricle	heart
43	chr12:32676200-32687000	Weak transcription	Right Ventricle	heart
44	chr12:32676200-32688000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:32676400-32684600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:32676400-32685000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:32676400-32685400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:32676400-32686600	Weak transcription	Brain Substantia Nigra	brain
49	chr12:32676400-32686800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:32676600-32677000	Enhancers	GM12878-XiMat	blood

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