Variant report

Variant	rs73071533
Chromosome Location	chr12:29717720-29717721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10492311	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829731	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11829994	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834102	0.92[EUR][1000 genomes]
rs11834291	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12310251	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424239	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12826893	0.92[EUR][1000 genomes]
rs142565	0.87[EUR][1000 genomes]
rs148897	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs159684	0.88[EUR][1000 genomes]
rs159688	0.84[EUR][1000 genomes]
rs159691	0.84[EUR][1000 genomes]
rs159692	0.84[EUR][1000 genomes]
rs159693	0.83[EUR][1000 genomes]
rs16934448	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16934474	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16934556	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1966531	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2288228	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs299474	0.89[EUR][1000 genomes]
rs299478	0.87[EUR][1000 genomes]
rs299480	0.87[EUR][1000 genomes]
rs299484	0.91[EUR][1000 genomes]
rs299485	0.87[EUR][1000 genomes]
rs34318689	0.99[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs55793838	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55970961	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56255721	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56367916	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56398900	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57072643	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57816450	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58290227	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59519970	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59915017	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60743264	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66750226	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7301943	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73069591	1.00[ASN][1000 genomes]
rs73069592	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73069593	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73069598	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071505	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071510	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071517	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071519	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071556	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73071582	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73073417	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73073419	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7315541	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74078415	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]

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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29665400-29725400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:29700400-29719000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:29700400-29734000	Weak transcription	Brain Anterior Caudate	brain
4	chr12:29709800-29756200	Weak transcription	HMEC	breast
5	chr12:29710200-29717800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:29711400-29718200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:29711800-29720800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:29712600-29722200	Weak transcription	Colonic Mucosa	Colon
9	chr12:29712600-29734600	Weak transcription	Liver	Liver
10	chr12:29712800-29722200	Weak transcription	Brain Germinal Matrix	brain
11	chr12:29713200-29719800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:29713200-29719800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:29713200-29726400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:29713200-29726600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:29713200-29731200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:29713200-29742600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:29714200-29717800	Enhancers	HSMMtube	muscle
18	chr12:29714400-29717800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:29715200-29717800	Enhancers	Colon Smooth Muscle	Colon
20	chr12:29715400-29718000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:29715400-29721400	Weak transcription	Esophagus	oesophagus
22	chr12:29715400-29722200	Weak transcription	Fetal Lung	lung
23	chr12:29715400-29731200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:29715600-29717800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:29715800-29719000	Weak transcription	NH-A	brain
26	chr12:29715800-29724800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:29716000-29718200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:29716200-29719400	Weak transcription	Osteobl	bone
29	chr12:29716200-29764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:29716400-29721000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:29716400-29722200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:29716600-29718000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:29716600-29719000	Weak transcription	Right Ventricle	heart
34	chr12:29716600-29719400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:29716600-29719400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:29716600-29719600	Weak transcription	NHDF-Ad	bronchial
37	chr12:29717000-29718000	Enhancers	Hela-S3	cervix
38	chr12:29717000-29720000	Weak transcription	Right Atrium	heart
39	chr12:29717000-29721800	Weak transcription	HUVEC	blood vessel
40	chr12:29717200-29717800	Enhancers	Stomach Mucosa	stomach
41	chr12:29717200-29718200	Enhancers	Ovary	ovary
42	chr12:29717200-29719000	Weak transcription	Fetal Stomach	stomach
43	chr12:29717400-29718600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:29717400-29719000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:29717400-29719200	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr12:29717400-29719200	Weak transcription	Adipose Nuclei	Adipose
47	chr12:29717400-29719200	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:29717400-29719400	Weak transcription	Fetal Kidney	kidney
49	chr12:29717400-29719400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:29717400-29720400	Weak transcription	Fetal Heart	heart

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