Variant report

Variant	rs73071582
Chromosome Location	chr12:29734948-29734949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10492311	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11829731	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11829994	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11834102	0.88[EUR][1000 genomes]
rs11834291	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11837554	0.83[EUR][1000 genomes]
rs12310251	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12424239	0.93[EUR][1000 genomes]
rs12816393	0.82[EUR][1000 genomes]
rs12826893	0.90[EUR][1000 genomes]
rs142565	0.83[EUR][1000 genomes]
rs148897	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs159684	0.89[EUR][1000 genomes]
rs159688	0.85[EUR][1000 genomes]
rs159691	0.85[EUR][1000 genomes]
rs159692	0.85[EUR][1000 genomes]
rs159693	0.87[EUR][1000 genomes]
rs16934448	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16934474	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16934556	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16934569	0.83[EUR][1000 genomes]
rs16934597	0.83[EUR][1000 genomes]
rs1966531	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288228	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs299474	0.85[EUR][1000 genomes]
rs299478	0.83[EUR][1000 genomes]
rs299480	0.83[EUR][1000 genomes]
rs299484	0.87[EUR][1000 genomes]
rs299485	0.83[EUR][1000 genomes]
rs34318689	0.93[EUR][1000 genomes]
rs55793838	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55970961	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56255721	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56367916	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56398900	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57072643	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57816450	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58290227	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59519970	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59915017	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60743264	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66750226	0.84[EUR][1000 genomes]
rs67491988	0.83[EUR][1000 genomes]
rs7301943	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73069591	0.82[ASN][1000 genomes]
rs73069592	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73069593	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73069598	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73071505	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73071510	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73071517	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73071519	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73071533	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73071556	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73073417	0.85[EUR][1000 genomes]
rs73073419	0.85[EUR][1000 genomes]
rs7315541	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74078415	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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: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	chr12:29720200-29735000	Weak transcription	NHDF-Ad	bronchial
6	chr12:29720200-29735800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:29720200-29743600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:29722400-29735400	Weak transcription	HSMMtube	muscle
9	chr12:29722600-29735200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:29722600-29736400	Weak transcription	Fetal Stomach	stomach
11	chr12:29722800-29735400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:29722800-29735800	Weak transcription	Fetal Kidney	kidney
13	chr12:29723000-29735200	Weak transcription	HSMM	muscle
14	chr12:29725600-29735600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:29725800-29735200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:29726000-29751400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:29726200-29735200	Weak transcription	Aorta	Aorta
18	chr12:29727000-29735200	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:29727000-29735200	Weak transcription	Right Atrium	heart
20	chr12:29727800-29735400	Weak transcription	Fetal Heart	heart
21	chr12:29728800-29735200	Weak transcription	Spleen	Spleen
22	chr12:29729400-29744000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:29730400-29736200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:29730600-29735600	Weak transcription	Right Ventricle	heart
25	chr12:29731000-29735200	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:29731000-29742600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:29731400-29735600	Weak transcription	Small Intestine	intestine
28	chr12:29731800-29769600	Weak transcription	Hela-S3	cervix
29	chr12:29732000-29737200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:29732200-29735400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:29732200-29737200	Enhancers	Colon Smooth Muscle	Colon
32	chr12:29732400-29735200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:29733400-29735200	Weak transcription	Left Ventricle	heart
34	chr12:29733600-29736000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr12:29733600-29737000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:29733800-29735800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:29733800-29737200	Enhancers	Adipose Nuclei	Adipose
38	chr12:29734000-29735600	Enhancers	Stomach Smooth Muscle	stomach
39	chr12:29734000-29736600	Enhancers	Brain Anterior Caudate	brain
40	chr12:29734200-29735200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:29734200-29737200	Enhancers	Rectal Smooth Muscle	rectum
42	chr12:29734400-29735200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:29734400-29735400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:29734400-29736200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:29734600-29735000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:29734600-29735000	Active TSS	Ovary	ovary
47	chr12:29734600-29735000	Flanking Active TSS	HUVEC	blood vessel
48	chr12:29734600-29735000	Active TSS	Osteobl	bone
49	chr12:29734600-29735800	Enhancers	Liver	Liver
50	chr12:29734600-29737000	Enhancers	Muscle Satellite Cultured Cells	--

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