Variant report

Variant	rs17122718
Chromosome Location	chr12:60013887-60013888
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60013598..60016258-chr12:60017696..60019251,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12824130	0.82[CEU][hapmap]
rs1497473	1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs17122680	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122682	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122685	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122687	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17122689	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122739	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122757	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122764	0.82[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17122766	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122781	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122783	0.85[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122785	0.85[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122790	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122791	0.85[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122795	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]
rs17122807	0.85[CEU][hapmap];0.83[AMR][1000 genomes]
rs17122818	0.81[ASN][1000 genomes]
rs17122823	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122827	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122830	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122837	1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs17122838	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122843	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122846	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122849	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17122850	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2706317	0.82[CEU][hapmap]
rs2706321	0.82[CEU][hapmap]
rs2711669	1.00[CEU][hapmap]
rs972132	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs982321	0.85[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1048949	chr12:59974039-60041477	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1038100	chr12:59983391-60018745	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983450	chr12:60011741-60014929	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60006200-60014400	Weak transcription	Pancreas	Pancrea
2	chr12:60006200-60019400	Weak transcription	Thymus	Thymus
3	chr12:60006400-60031400	Weak transcription	Left Ventricle	heart
4	chr12:60007200-60031600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:60009600-60020400	Weak transcription	NHDF-Ad	bronchial
6	chr12:60009800-60014200	Weak transcription	Aorta	Aorta
7	chr12:60009800-60033200	Weak transcription	Ovary	ovary
8	chr12:60010000-60015200	Enhancers	Fetal Heart	heart
9	chr12:60010800-60015400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:60011800-60014400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:60012200-60014200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:60012400-60014400	Enhancers	Primary T cells from cord blood	blood
13	chr12:60012400-60014400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:60012400-60015000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:60012800-60014400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:60012800-60015400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr12:60013000-60021200	Weak transcription	NHLF	lung
18	chr12:60013200-60014400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr12:60013200-60014600	Enhancers	Brain Substantia Nigra	brain
20	chr12:60013200-60015400	Enhancers	Primary B cells from cord blood	blood
21	chr12:60013400-60014000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:60013400-60014200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:60013400-60014200	Enhancers	Primary hematopoietic stem cells	blood
24	chr12:60013400-60014200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:60013400-60014200	Enhancers	Brain Anterior Caudate	brain
26	chr12:60013400-60014400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:60013400-60014600	Enhancers	Brain Angular Gyrus	brain
28	chr12:60013400-60015000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:60013400-60015200	Enhancers	Primary B cells from peripheral blood	blood
30	chr12:60013400-60015200	Enhancers	Adipose Nuclei	Adipose
31	chr12:60013400-60015200	Enhancers	Brain Hippocampus Middle	brain
32	chr12:60013400-60015200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr12:60013600-60014400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:60013600-60014400	Weak transcription	Right Ventricle	heart
35	chr12:60013600-60015000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:60013600-60055400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:60013800-60014000	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr12:60013800-60014600	Enhancers	Osteobl	bone
39	chr12:60013800-60014800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr12:60013800-60015200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:60013800-60015200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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