Variant report

Variant	rs13035829
Chromosome Location	chr2:233604487-233604488
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233602602..233605955-chr2:233608656..233612608,7	K562	blood:
2	chr2:233604218..233605797-chr2:233609127..233612089,2	K562	blood:
3	chr2:233603140..233605139-chr2:233611874..233614371,3	MCF-7	breast:
4	chr2:233598909..233600734-chr2:233602251..233605163,2	K562	blood:
5	chr2:233598909..233602066-chr2:233602251..233606134,3	K562	blood:

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1022330	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1044480	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10933409	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10933411	0.83[EUR][1000 genomes]
rs10933412	0.83[EUR][1000 genomes]
rs11555646	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11676216	0.82[EUR][1000 genomes]
rs11679079	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11687128	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11690474	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11692545	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12472839	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12474040	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12478564	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12694917	0.83[EUR][1000 genomes]
rs12987513	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12990821	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12991088	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12997185	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13003675	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13004406	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13007783	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13008942	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13011298	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13013142	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13021246	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13024793	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13424351	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1446308	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1446310	0.90[ASN][1000 genomes]
rs1446311	0.83[EUR][1000 genomes]
rs1801251	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1867778	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1947105	0.81[EUR][1000 genomes]
rs2012221	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2044449	0.81[EUR][1000 genomes]
rs2100053	0.81[EUR][1000 genomes]
rs2305137	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2305141	0.90[ASN][1000 genomes]
rs2592102	0.81[EUR][1000 genomes]
rs2592105	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2592113	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2674839	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2675971	0.81[EUR][1000 genomes]
rs2675973	0.81[EUR][1000 genomes]
rs2675974	0.81[EUR][1000 genomes]
rs283466	0.90[ASN][1000 genomes]
rs283468	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs283469	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs283471	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs283474	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs283475	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs283476	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs283477	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs283478	0.82[ASN][1000 genomes]
rs283479	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs283480	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs283481	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs283484	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs283485	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs283486	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33980184	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34880628	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35085837	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35212961	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35285732	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35362030	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35395584	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35621474	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36007169	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3816334	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3817311	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4452130	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4458205	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4517962	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4973053	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4973054	0.83[EUR][1000 genomes]
rs4973559	0.80[ASN][1000 genomes]
rs4973560	0.88[ASN][1000 genomes]
rs4973561	0.90[ASN][1000 genomes]
rs56777991	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6437074	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66549961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67013068	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6714245	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6717841	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6719061	0.88[ASN][1000 genomes]
rs6724117	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6732136	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6733151	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6738386	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6739638	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6745879	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6746294	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6747645	0.98[EUR][1000 genomes]
rs6748027	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6761324	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71421663	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs737028	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7558609	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7562712	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7573208	0.88[ASN][1000 genomes]
rs7578299	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7587309	0.83[EUR][1000 genomes]
rs7589201	0.81[EUR][1000 genomes]
rs7591176	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7592717	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7606090	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs778166	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs895430	0.81[EUR][1000 genomes]
rs9653383	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9679089	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs983430	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs991873	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13035829	C2orf82	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233564200-233613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:233565000-233612200	Weak transcription	Fetal Brain Male	brain
3	chr2:233565200-233606400	Weak transcription	Stomach Mucosa	stomach
4	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:233566800-233612800	Weak transcription	Small Intestine	intestine
6	chr2:233569200-233615000	Weak transcription	Colonic Mucosa	Colon
7	chr2:233569400-233612800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:233569400-233615400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:233571200-233627400	Weak transcription	Gastric	stomach
10	chr2:233571600-233612200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:233580000-233606000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:233585800-233626000	Weak transcription	Fetal Heart	heart
14	chr2:233586400-233612200	Weak transcription	Brain Substantia Nigra	brain
15	chr2:233587000-233630600	Weak transcription	Psoas Muscle	Psoas
16	chr2:233587200-233613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:233588800-233605000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:233589000-233605800	Strong transcription	Liver	Liver
19	chr2:233589600-233619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:233589600-233627000	Weak transcription	Pancreas	Pancrea
21	chr2:233592200-233604600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:233594800-233611800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:233594800-233612400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:233595000-233615600	Weak transcription	Spleen	Spleen
25	chr2:233595200-233612400	Weak transcription	Brain Anterior Caudate	brain
26	chr2:233595400-233612200	Weak transcription	Right Ventricle	heart
27	chr2:233597200-233627000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:233598000-233604800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:233598400-233604600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:233599000-233605000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:233599000-233605000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:233599000-233605200	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:233599000-233606800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:233599200-233605600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:233599400-233605800	Weak transcription	A549	lung
36	chr2:233599600-233612200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:233599600-233612400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:233599600-233613400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:233599800-233605000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:233600000-233612200	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:233600000-233612400	Weak transcription	Brain Germinal Matrix	brain
42	chr2:233600000-233613800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:233600200-233612200	Weak transcription	NH-A	brain
44	chr2:233600600-233613400	Weak transcription	Brain Angular Gyrus	brain
45	chr2:233601600-233605000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:233601800-233604600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr2:233602000-233612400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:233602000-233612400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:233602000-233612400	Weak transcription	HMEC	breast
50	chr2:233602200-233608200	Weak transcription	HSMM	muscle

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