Variant report

Variant	rs17122795
Chromosome Location	chr12:60054065-60054066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1497473	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs17122680	0.85[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122682	0.85[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122685	0.85[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122687	0.85[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17122689	0.85[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122713	0.88[YRI][hapmap]
rs17122718	0.85[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122739	0.85[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122757	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122764	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17122766	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122781	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122783	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122785	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122790	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122791	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]
rs17122807	1.00[CEU][hapmap]
rs17122818	0.81[ASN][1000 genomes]
rs17122823	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122827	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122830	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122837	0.87[CEU][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs17122838	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122843	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122846	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122849	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122850	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2711669	0.85[CEU][hapmap]
rs972132	0.85[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs982321	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60013600-60055400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:60026600-60089200	Weak transcription	Gastric	stomach
3	chr12:60029600-60063200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:60034000-60061600	Weak transcription	Aorta	Aorta
5	chr12:60044600-60054600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:60044800-60055000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:60045000-60058400	Weak transcription	Left Ventricle	heart
8	chr12:60045600-60061600	Weak transcription	Pancreas	Pancrea
9	chr12:60045600-60071800	Weak transcription	Ovary	ovary
10	chr12:60045800-60054400	Weak transcription	Osteobl	bone
11	chr12:60045800-60085400	Weak transcription	NHDF-Ad	bronchial
12	chr12:60045800-60099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:60046400-60054800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:60046600-60058000	Weak transcription	Adipose Nuclei	Adipose
15	chr12:60048800-60056200	Weak transcription	GM12878-XiMat	blood
16	chr12:60048800-60058400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:60050000-60068600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:60050400-60060200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:60050400-60060400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:60050600-60060200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:60050600-60060400	Weak transcription	Primary T cells from cord blood	blood
22	chr12:60050600-60060600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:60050800-60060400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:60050800-60098600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:60051400-60055200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:60051600-60058000	Weak transcription	Fetal Heart	heart
27	chr12:60051800-60060000	Weak transcription	Primary B cells from cord blood	blood
28	chr12:60052200-60058000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:60052200-60060400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr12:60052600-60054400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:60052600-60055000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:60053800-60055200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:60054000-60054200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:60054000-60054200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:60054000-60054200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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