Variant report

Variant	rs17122838
Chromosome Location	chr12:60074022-60074023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1497473	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122680	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122682	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122685	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122687	1.00[JPT][hapmap]
rs17122689	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122718	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122739	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122757	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122764	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs17122766	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122781	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122783	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122785	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122790	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122791	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122795	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122807	0.87[CEU][hapmap]
rs17122818	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122823	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122827	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122830	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122837	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122843	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122846	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122849	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122850	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972132	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs982321	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60026600-60089200	Weak transcription	Gastric	stomach
2	chr12:60045800-60085400	Weak transcription	NHDF-Ad	bronchial
3	chr12:60045800-60099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:60050800-60098600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:60058800-60080200	Weak transcription	Fetal Heart	heart
6	chr12:60061600-60074800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:60062200-60085800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:60069600-60131400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:60069800-60078200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:60071600-60098600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:60072000-60074400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:60072200-60075000	Weak transcription	Spleen	Spleen
13	chr12:60072200-60098600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:60072400-60085800	Weak transcription	Primary T cells from cord blood	blood
15	chr12:60072600-60085000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:60072800-60098000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:60073000-60075000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:60073000-60081000	Weak transcription	Ovary	ovary
19	chr12:60073000-60085000	Weak transcription	Primary B cells from cord blood	blood
20	chr12:60073000-60089000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:60073200-60078200	Weak transcription	Left Ventricle	heart
22	chr12:60073200-60081400	Weak transcription	Right Atrium	heart
23	chr12:60073200-60084400	Weak transcription	Primary hematopoietic stem cells	blood

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