Variant report

Variant	rs62136279
Chromosome Location	chr2:32627808-32627809
allele	A/G
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:51)

rs_ID	r²[population]
rs1046602	0.87[EUR][1000 genomes]
rs12470811	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470951	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475684	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011943	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011947	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011963	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366937	1.00[ASN][1000 genomes]
rs35368935	0.87[EUR][1000 genomes]
rs36060675	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41291167	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952257	0.82[EUR][1000 genomes]
rs4952259	0.89[EUR][1000 genomes]
rs4952260	0.87[EUR][1000 genomes]
rs55788900	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56347254	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57813560	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61439415	0.80[EUR][1000 genomes]
rs62134043	0.82[EUR][1000 genomes]
rs62134044	0.82[EUR][1000 genomes]
rs62134045	0.80[EUR][1000 genomes]
rs62134050	0.87[EUR][1000 genomes]
rs62134052	0.87[EUR][1000 genomes]
rs62134054	0.87[EUR][1000 genomes]
rs62134059	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136263	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136264	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136269	1.00[ASN][1000 genomes]
rs62136276	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136278	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136280	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136281	1.00[ASN][1000 genomes]
rs62136282	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136284	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136285	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136286	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136287	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136302	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136306	1.00[ASN][1000 genomes]
rs62136326	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136348	1.00[ASN][1000 genomes]
rs6543655	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747906	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798728	0.82[EUR][1000 genomes]
rs72798733	0.85[EUR][1000 genomes]
rs72798777	1.00[ASN][1000 genomes]
rs72798784	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798788	1.00[ASN][1000 genomes]
rs72798796	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72800830	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609320	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv2751888	chr2:32539236-33331549	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv516173	chr2:32541438-33329957	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	esv2763243	chr2:32567339-33331778	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv869582	chr2:32626571-33335810	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv873780	chr2:32626617-32725022	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32583600-32653200	Weak transcription	Gastric	stomach
2	chr2:32583800-32649000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:32602000-32653000	Weak transcription	Stomach Mucosa	stomach
4	chr2:32604600-32635000	Strong transcription	Fetal Thymus	thymus
5	chr2:32604600-32635200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:32604600-32637200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:32604800-32635600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:32605200-32635400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr2:32605200-32637200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:32605400-32652800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:32605800-32634000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr2:32606800-32636800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:32607000-32636200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:32607200-32650600	Weak transcription	Fetal Heart	heart
15	chr2:32607600-32639800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:32607800-32634000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:32607800-32637800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:32607800-32640200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:32609000-32632200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:32609800-32637400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:32613800-32645400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:32617400-32632200	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:32617800-32650800	Weak transcription	Right Ventricle	heart
24	chr2:32618000-32640400	Weak transcription	Small Intestine	intestine
25	chr2:32618000-32650800	Weak transcription	Psoas Muscle	Psoas
26	chr2:32618600-32644800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:32618800-32640000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:32619000-32629000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:32620200-32650600	Weak transcription	Aorta	Aorta
30	chr2:32621000-32631600	Weak transcription	Hela-S3	cervix
31	chr2:32621000-32669800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:32621200-32664600	Weak transcription	Fetal Brain Male	brain
33	chr2:32621400-32640000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:32621600-32693400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:32621800-32630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:32621800-32639800	Weak transcription	Brain Anterior Caudate	brain
37	chr2:32621800-32639800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:32622000-32629000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:32622000-32639800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:32622000-32640200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:32622200-32640000	Weak transcription	Brain Substantia Nigra	brain
42	chr2:32622200-32640000	Weak transcription	Ovary	ovary
43	chr2:32622400-32629400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:32622400-32639800	Weak transcription	NHLF	lung
45	chr2:32622400-32640000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:32622400-32640000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:32622400-32640200	Weak transcription	Fetal Brain Female	brain
48	chr2:32622600-32629000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:32622600-32636000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:32622600-32636200	Weak transcription	Pancreas	Pancrea

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