Variant report

Variant	rs71455670
Chromosome Location	chr12:31654483-31654484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1038066	0.84[EUR][1000 genomes]
rs12809140	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12812075	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12816170	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12816386	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12818749	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819062	0.89[EUR][1000 genomes]
rs12820294	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821808	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12822601	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12825207	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826193	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12831480	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17497517	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497656	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497998	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126897	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34007930	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34094545	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34184789	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34271764	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34308937	0.89[EUR][1000 genomes]
rs34450466	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34585237	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34642866	0.87[EUR][1000 genomes]
rs34667511	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34949976	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34955459	0.89[EUR][1000 genomes]
rs34986122	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35029695	0.91[EUR][1000 genomes]
rs35193529	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35545963	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35567364	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35679974	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35692484	0.91[EUR][1000 genomes]
rs3850967	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4338625	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930981	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930983	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931485	0.82[EUR][1000 genomes]
rs4931498	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4931503	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4931504	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4931510	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931518	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55635343	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55643034	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55771933	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56183451	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56234529	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56282720	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56409505	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66479670	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66520413	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66552209	0.90[EUR][1000 genomes]
rs66597773	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66635949	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67415228	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67963293	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs68030436	0.85[EUR][1000 genomes]
rs71455664	0.90[EUR][1000 genomes]
rs71455667	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71455668	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71455669	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71455671	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73080503	0.87[EUR][1000 genomes]
rs73084486	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73086471	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088505	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088597	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31583400-31662000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:31628800-31655800	Weak transcription	Gastric	stomach
3	chr12:31630400-31655000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:31636200-31663000	Weak transcription	Aorta	Aorta
5	chr12:31639000-31655800	Weak transcription	Left Ventricle	heart
6	chr12:31642600-31670000	Weak transcription	Fetal Lung	lung
7	chr12:31643600-31658800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:31644400-31659400	Weak transcription	Pancreas	Pancrea
9	chr12:31645600-31658000	Weak transcription	Fetal Intestine Small	intestine
10	chr12:31646000-31659400	Weak transcription	NH-A	brain
11	chr12:31646000-31659800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:31646200-31657400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:31647400-31660000	Weak transcription	Psoas Muscle	Psoas
14	chr12:31647600-31661200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:31647800-31661400	Weak transcription	Brain Angular Gyrus	brain
16	chr12:31648800-31657200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:31649400-31654800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:31649400-31656600	Weak transcription	NHEK	skin
19	chr12:31650800-31655800	Weak transcription	Ovary	ovary
20	chr12:31650800-31660800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:31651200-31656200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:31651600-31655800	Weak transcription	Liver	Liver
23	chr12:31651600-31661400	Weak transcription	HepG2	liver
24	chr12:31651600-31661800	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:31652000-31659600	Weak transcription	Fetal Heart	heart
26	chr12:31652600-31657400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:31653000-31655600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:31653000-31656400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:31653000-31657600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:31653200-31656000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:31653200-31657600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:31653400-31655400	Weak transcription	A549	lung
33	chr12:31654200-31655600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:31654400-31657400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:31654400-31657800	Weak transcription	Primary B cells from cord blood	blood

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