Variant report

Variant	rs6487522
Chromosome Location	chr12:26141679-26141680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10431215	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10459081	0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10771249	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771250	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10771251	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs10771252	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs10771253	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs10771255	0.92[CEU][hapmap];0.81[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10842641	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842642	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10842645	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842646	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs10842647	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842648	0.96[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842650	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs10842651	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10842658	0.85[CHB][hapmap]
rs11048363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048364	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048365	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs11048367	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048368	0.82[ASN][1000 genomes]
rs11048370	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11048374	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12227480	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12811312	0.82[ASN][1000 genomes]
rs1513124	0.85[CHB][hapmap]
rs1874349	0.82[ASN][1000 genomes]
rs1874351	0.92[CEU][hapmap];0.81[CHB][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1994995	0.92[CEU][hapmap];0.89[CHB][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2251618	0.85[CHB][hapmap]
rs2643927	0.90[CHB][hapmap]
rs2643930	0.82[CHB][hapmap]
rs2643933	0.88[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2729631	0.84[CHB][hapmap]
rs2729635	0.90[CHB][hapmap]
rs61247260	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7132820	0.85[CHB][hapmap]
rs7136804	0.85[CHB][hapmap]
rs7137379	0.84[CHB][hapmap]
rs7138742	0.84[CHB][hapmap]
rs7139241	0.84[CHB][hapmap]
rs7295585	0.84[CHB][hapmap]
rs7299421	0.85[CHB][hapmap]
rs7315752	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7956992	0.85[CHB][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7963754	0.91[CEU][hapmap];0.82[CHB][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7964657	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969486	0.92[CEU][hapmap];0.90[CHB][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7971740	0.82[ASN][1000 genomes]
rs7971906	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7977148	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7979763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv522351	chr12:26127230-26149703	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
2	chr12:26129800-26143000	Enhancers	Colon Smooth Muscle	Colon
3	chr12:26131000-26145400	Weak transcription	Lung	lung
4	chr12:26131000-26146000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:26131000-26146200	Weak transcription	HSMM	muscle
6	chr12:26132400-26146800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:26133000-26144600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:26133000-26144600	Weak transcription	HMEC	breast
9	chr12:26133000-26144600	Weak transcription	NHEK	skin
10	chr12:26133000-26145200	Weak transcription	NH-A	brain
11	chr12:26133000-26145200	Weak transcription	Osteobl	bone
12	chr12:26134200-26148000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:26134400-26145400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:26134400-26145400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:26134400-26147800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:26136800-26142000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:26137200-26143200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:26138400-26146800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:26138800-26145400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:26139200-26145200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:26139200-26147400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:26139400-26143800	Weak transcription	Brain Anterior Caudate	brain
23	chr12:26139400-26146000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:26139400-26150600	Weak transcription	Brain Angular Gyrus	brain
25	chr12:26139600-26144400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:26139600-26144400	Weak transcription	Left Ventricle	heart
27	chr12:26139600-26145800	Weak transcription	Brain Substantia Nigra	brain
28	chr12:26139600-26160000	Weak transcription	Pancreas	Pancrea
29	chr12:26139800-26144600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:26139800-26145000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:26139800-26146800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:26140000-26142200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr12:26140200-26144400	Weak transcription	Right Ventricle	heart
34	chr12:26140200-26145400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:26140200-26145600	Weak transcription	Aorta	Aorta
36	chr12:26140200-26147600	Weak transcription	Ovary	ovary
37	chr12:26140400-26142800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:26140400-26144400	Weak transcription	Right Atrium	heart
39	chr12:26140400-26144400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:26141000-26142200	Enhancers	Stomach Smooth Muscle	stomach
41	chr12:26141200-26141800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:26141200-26142000	Enhancers	Fetal Lung	lung
43	chr12:26141200-26142200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:26141200-26142200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr12:26141200-26142200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:26141200-26143600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:26141400-26141800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:26141400-26141800	Flanking Active TSS	HUVEC	blood vessel
49	chr12:26141400-26142000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:26141400-26142400	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links