Variant report

Variant	rs73071517
Chromosome Location	chr12:29712706-29712707
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	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829731	0.85[EUR][1000 genomes]
rs11829994	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834102	0.92[EUR][1000 genomes]
rs11834291	0.85[EUR][1000 genomes]
rs12310251	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424239	0.97[EUR][1000 genomes]
rs12826893	0.92[EUR][1000 genomes]
rs142565	0.87[EUR][1000 genomes]
rs148897	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	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16934474	0.93[EUR][1000 genomes]
rs16934556	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1966531	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2288228	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	0.97[EUR][1000 genomes]
rs55793838	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55970961	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56255721	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56367916	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56398900	0.81[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	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58290227	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59519970	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59915017	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60743264	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66750226	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7301943	0.88[EUR][1000 genomes]
rs73069591	1.00[ASN][1000 genomes]
rs73069592	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73069593	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73069598	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071505	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071510	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071519	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071533	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071556	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73071582	0.81[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	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74078415	0.81[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:60 , 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	chr12:29668800-29716600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:29699400-29715800	Weak transcription	Right Ventricle	heart
4	chr12:29700400-29719000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:29700400-29734000	Weak transcription	Brain Anterior Caudate	brain
6	chr12:29701000-29714200	Weak transcription	HSMMtube	muscle
7	chr12:29701200-29714400	Weak transcription	NHDF-Ad	bronchial
8	chr12:29701200-29714400	Weak transcription	NHLF	lung
9	chr12:29701200-29715200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:29701200-29715600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:29703800-29715200	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:29705000-29716000	Weak transcription	Spleen	Spleen
13	chr12:29706000-29715200	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:29706200-29715000	Weak transcription	Osteobl	bone
15	chr12:29706600-29716200	Weak transcription	Aorta	Aorta
16	chr12:29707400-29714600	Weak transcription	Fetal Heart	heart
17	chr12:29709800-29756200	Weak transcription	HMEC	breast
18	chr12:29710000-29713800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:29710000-29714200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:29710000-29714200	Weak transcription	HSMM	muscle
21	chr12:29710000-29715000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:29710000-29715600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:29710200-29717800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:29711400-29713200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr12:29711400-29716600	Enhancers	Stomach Mucosa	stomach
26	chr12:29711400-29718200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:29711600-29712800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:29711600-29713000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:29711800-29713200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr12:29711800-29713400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:29711800-29713600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:29711800-29716600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:29711800-29720800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:29712000-29712800	Enhancers	Fetal Kidney	kidney
35	chr12:29712000-29713200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:29712000-29715200	Weak transcription	Left Ventricle	heart
37	chr12:29712000-29715600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:29712200-29712800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:29712200-29712800	Enhancers	Ovary	ovary
40	chr12:29712200-29713200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr12:29712200-29713200	Genic enhancers	Hela-S3	cervix
42	chr12:29712400-29712800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr12:29712400-29712800	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr12:29712400-29712800	Active TSS	Fetal Intestine Small	intestine
45	chr12:29712400-29712800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr12:29712400-29712800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr12:29712400-29713200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr12:29712400-29714000	Weak transcription	Small Intestine	intestine
49	chr12:29712600-29712800	Enhancers	Brain Germinal Matrix	brain
50	chr12:29712600-29712800	Flanking Active TSS	Duodenum Mucosa	Duodenum

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