Variant report

Variant	rs11050300
Chromosome Location	chr12:29730581-29730582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10400534	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs10400541	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs10771545	0.94[CEU][hapmap];0.95[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771546	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10771547	0.84[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10771549	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10843443	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10843446	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050270	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050271	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11050273	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11050278	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050280	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050281	0.85[CHB][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050284	0.85[ASN][1000 genomes]
rs11050288	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050291	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050292	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050295	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050296	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050297	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11050298	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11050299	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]
rs11050301	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]
rs11050302	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];0.99[EUR][1000 genomes];0.99[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];0.93[ASN][1000 genomes]
rs12371221	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12579805	0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap]
rs12581671	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12810291	1.00[CEU][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12819780	0.82[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs12820673	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1326758	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs1409616	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs159696	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs159701	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs159703	0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs159704	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.94[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs159705	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs159707	0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs159708	0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs159709	0.82[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap]
rs159714	0.85[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs159715	0.81[ASN][1000 genomes]
rs1988548	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]
rs2060569	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2113879	0.88[CEU][hapmap];0.87[JPT][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes]
rs2113880	0.88[CEU][hapmap];0.87[JPT][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes]
rs2288131	0.95[CHB][hapmap];0.83[CHD][hapmap];0.83[ASN][1000 genomes]
rs2288132	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2288133	0.94[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2288230	0.92[EUR][1000 genomes]
rs2350532	0.88[CEU][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2553077	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2766605	0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap]
rs2766606	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs299444	0.90[CHB][hapmap]
rs299445	0.90[CHB][hapmap]
rs299455	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs299456	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs299457	0.84[ASN][1000 genomes]
rs299459	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs299462	1.00[CEU][hapmap];0.87[JPT][hapmap];0.90[EUR][1000 genomes]
rs299463	0.90[JPT][hapmap];0.90[EUR][1000 genomes]
rs299464	0.90[EUR][1000 genomes]
rs299465	1.00[CEU][hapmap];0.87[JPT][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs299466	1.00[CEU][hapmap];0.87[JPT][hapmap];0.90[EUR][1000 genomes]
rs299472	1.00[CEU][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs299475	0.87[CEU][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes]
rs34020170	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34187264	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34555972	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35111056	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35536095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35741143	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs375109	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4931201	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4931204	0.85[ASN][1000 genomes]
rs60500145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487837	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7294502	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]
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];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7306397	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7310555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7310895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7314549	0.84[ASW][hapmap];0.94[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7971202	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[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];0.86[ASN][1000 genomes]
rs9300192	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9738399	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29700400-29734000	Weak transcription	Brain Anterior Caudate	brain
2	chr12:29709800-29756200	Weak transcription	HMEC	breast
3	chr12:29712600-29734600	Weak transcription	Liver	Liver
4	chr12:29713200-29731200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:29713200-29742600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:29715400-29731200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:29716200-29764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:29717600-29734800	Weak transcription	NHLF	lung
9	chr12:29717600-29736400	Weak transcription	Psoas Muscle	Psoas
10	chr12:29717800-29732200	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:29720000-29731400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:29720000-29731800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:29720200-29735000	Weak transcription	NHDF-Ad	bronchial
14	chr12:29720200-29735800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:29720200-29743600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:29722400-29733600	Weak transcription	Ovary	ovary
17	chr12:29722400-29735400	Weak transcription	HSMMtube	muscle
18	chr12:29722600-29735200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:29722600-29736400	Weak transcription	Fetal Stomach	stomach
20	chr12:29722800-29735400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:29722800-29735800	Weak transcription	Fetal Kidney	kidney
22	chr12:29723000-29735200	Weak transcription	HSMM	muscle
23	chr12:29724000-29730600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:29725600-29733400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:29725600-29735600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:29725800-29735200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:29726000-29731000	Weak transcription	Hela-S3	cervix
28	chr12:29726000-29751400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:29726200-29731400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:29726200-29734600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:29726200-29735200	Weak transcription	Aorta	Aorta
32	chr12:29727000-29731400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:29727000-29735200	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:29727000-29735200	Weak transcription	Right Atrium	heart
35	chr12:29727200-29733800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:29727800-29735400	Weak transcription	Fetal Heart	heart
37	chr12:29728600-29733000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:29728600-29733600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:29728800-29735200	Weak transcription	Spleen	Spleen
40	chr12:29729000-29734000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:29729200-29731200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:29729400-29744000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:29729600-29731000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:29730200-29730600	Enhancers	Left Ventricle	heart
45	chr12:29730200-29730600	Enhancers	Right Ventricle	heart
46	chr12:29730200-29731800	Enhancers	Adipose Nuclei	Adipose
47	chr12:29730200-29732200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:29730200-29732400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:29730200-29732600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr12:29730400-29730600	Bivalent Enhancer	Small Intestine	intestine

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