Variant report

Variant	rs17122739
Chromosome Location	chr12:60016096-60016097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:60013598..60016258-chr12:60017696..60019251,2	MCF-7	breast:
2	chr12:60015509..60017569-chr12:60019579..60022137,3	MCF-7	breast:
3	chr12:59989713..59992381-chr12:60015573..60017703,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118596	Chromatin interaction

Extended variants
information (count: 37 )
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];0.81[ASN][1000 genomes]
rs17122680	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122682	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]
rs17122685	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122687	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17122689	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122718	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];0.91[AFR][1000 genomes];0.91[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];1.00[AFR][1000 genomes];1.00[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122783	0.85[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122785	0.85[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122790	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[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[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122807	0.85[CEU][hapmap];0.91[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];0.81[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[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]
rs982321	0.85[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60006200-60019400	Weak transcription	Thymus	Thymus
2	chr12:60006400-60031400	Weak transcription	Left Ventricle	heart
3	chr12:60007200-60031600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:60009600-60020400	Weak transcription	NHDF-Ad	bronchial
5	chr12:60009800-60033200	Weak transcription	Ovary	ovary
6	chr12:60013000-60021200	Weak transcription	NHLF	lung
7	chr12:60013600-60055400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:60014400-60018600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:60014400-60023800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:60014400-60037400	Weak transcription	Primary T cells from cord blood	blood
11	chr12:60014600-60016600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:60014600-60026200	Weak transcription	Aorta	Aorta
13	chr12:60015000-60018400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:60015000-60020200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:60015200-60018600	Weak transcription	Pancreas	Pancrea
16	chr12:60015200-60024800	Weak transcription	Adipose Nuclei	Adipose
17	chr12:60015200-60027600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:60015200-60030400	Weak transcription	Fetal Heart	heart
19	chr12:60015200-60037400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:60015200-60038000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:60015400-60021800	Weak transcription	Primary B cells from cord blood	blood
22	chr12:60015400-60023200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:60015400-60038000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:60015800-60020600	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:60016000-60017400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:60016000-60018200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:60016000-60018400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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