Variant report

Variant	rs7294502
Chromosome Location	chr12:29735770-29735771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10400534	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs10400541	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs10771545	0.94[CEU][hapmap];0.95[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10771546	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10771547	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10771549	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843443	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843446	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050270	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050271	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11050273	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050278	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11050280	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11050281	0.85[CHB][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11050284	0.83[ASN][1000 genomes]
rs11050288	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050291	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050292	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050295	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050296	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050297	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11050298	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11050299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11611194	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12371221	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12579805	0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs12581671	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12810291	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12819780	0.82[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs12820673	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1326758	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs1409616	0.85[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1409617	0.82[ASN][1000 genomes]
rs159696	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs159701	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs159703	0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs159704	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap];0.92[ASN][1000 genomes]
rs159705	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs159707	0.90[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs159708	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs159709	0.82[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap];0.81[ASN][1000 genomes]
rs159714	0.85[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs159715	0.83[ASN][1000 genomes]
rs1988548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2060569	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2113879	0.88[CEU][hapmap];0.87[JPT][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes]
rs2113880	0.88[CEU][hapmap];0.87[JPT][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes]
rs2182547	0.82[ASN][1000 genomes]
rs2288131	0.95[CHB][hapmap];0.83[CHD][hapmap];0.81[ASN][1000 genomes]
rs2288132	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2288133	0.94[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2288230	0.93[EUR][1000 genomes]
rs2350532	0.88[CEU][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2553077	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2766605	0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2766606	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs299444	0.90[CHB][hapmap]
rs299445	0.90[CHB][hapmap]
rs299455	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs299456	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs299457	0.82[ASN][1000 genomes]
rs299459	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs299462	1.00[CEU][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes]
rs299463	0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs299464	0.89[EUR][1000 genomes]
rs299465	1.00[CEU][hapmap];0.87[JPT][hapmap];0.96[TSI][hapmap];0.89[EUR][1000 genomes]
rs299466	1.00[CEU][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes]
rs299472	1.00[CEU][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs299475	0.87[CEU][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes]
rs34020170	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34187264	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34555972	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35111056	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35536095	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35741143	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs375109	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3910442	0.89[MEX][hapmap]
rs4931201	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4931204	0.83[ASN][1000 genomes]
rs60500145	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6487837	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7295284	0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs7301491	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7306397	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7310555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7310895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7314549	0.94[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7971202	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9300191	0.94[CEU][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9300192	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9738399	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs994172	0.86[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29709800-29756200	Weak transcription	HMEC	breast
2	chr12:29713200-29742600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:29716200-29764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:29717600-29736400	Weak transcription	Psoas Muscle	Psoas
5	chr12:29720200-29735800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:29720200-29743600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:29722600-29736400	Weak transcription	Fetal Stomach	stomach
8	chr12:29722800-29735800	Weak transcription	Fetal Kidney	kidney
9	chr12:29726000-29751400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:29729400-29744000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:29730400-29736200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:29731000-29742600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:29731800-29769600	Weak transcription	Hela-S3	cervix
14	chr12:29732000-29737200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:29732200-29737200	Enhancers	Colon Smooth Muscle	Colon
16	chr12:29733600-29736000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr12:29733600-29737000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:29733800-29735800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:29733800-29737200	Enhancers	Adipose Nuclei	Adipose
20	chr12:29734000-29736600	Enhancers	Brain Anterior Caudate	brain
21	chr12:29734200-29737200	Enhancers	Rectal Smooth Muscle	rectum
22	chr12:29734400-29736200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:29734600-29735800	Enhancers	Liver	Liver
24	chr12:29734600-29737000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr12:29734600-29737000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:29734600-29737200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:29734800-29735800	Enhancers	NH-A	brain
28	chr12:29734800-29736000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:29734800-29736200	Enhancers	Brain Substantia Nigra	brain
30	chr12:29734800-29736800	Enhancers	NHLF	lung
31	chr12:29734800-29737200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:29735000-29735800	Enhancers	NHDF-Ad	bronchial
33	chr12:29735000-29736000	Enhancers	HUVEC	blood vessel
34	chr12:29735000-29736200	Enhancers	Ovary	ovary
35	chr12:29735200-29735800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:29735200-29735800	Enhancers	Aorta	Aorta
37	chr12:29735200-29735800	Enhancers	Stomach Mucosa	stomach
38	chr12:29735200-29736000	Enhancers	Brain Hippocampus Middle	brain
39	chr12:29735200-29736000	Genic enhancers	Fetal Muscle Leg	muscle
40	chr12:29735200-29736000	Enhancers	Right Atrium	heart
41	chr12:29735200-29736000	Enhancers	HSMM	muscle
42	chr12:29735200-29736600	Enhancers	Brain Cingulate Gyrus	brain
43	chr12:29735200-29737000	Enhancers	Spleen	Spleen
44	chr12:29735200-29737200	Enhancers	Left Ventricle	heart
45	chr12:29735400-29735800	Enhancers	Fetal Lung	lung
46	chr12:29735400-29736000	Enhancers	HSMMtube	muscle
47	chr12:29735400-29736400	Weak transcription	Lung	lung
48	chr12:29735400-29737000	Enhancers	Fetal Heart	heart
49	chr12:29735400-29737200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr12:29735400-29745800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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