Variant report

Variant	rs982321
Chromosome Location	chr12:60037935-60037936
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60030832..60032704-chr12:60035447..60038418,2	MCF-7	breast:

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];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];0.90[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	0.88[ASW][hapmap];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	0.88[ASW][hapmap];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];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122795	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]
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];0.90[MKK][hapmap];1.00[TSI][hapmap];0.97[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	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

No data

Chromatin state (count:40 , 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	chr12:60015200-60038000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:60015400-60038000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:60018800-60044400	Weak transcription	Pancreas	Pancrea
5	chr12:60020800-60044800	Weak transcription	NHDF-Ad	bronchial
6	chr12:60021200-60038000	Weak transcription	Dnd41	blood
7	chr12:60022400-60044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:60024000-60040600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:60026600-60089200	Weak transcription	Gastric	stomach
10	chr12:60028200-60051400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:60028400-60038600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:60028400-60040400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:60028400-60042800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:60029000-60039600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:60029600-60063200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:60031000-60044200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:60031800-60044400	Weak transcription	Left Ventricle	heart
18	chr12:60031800-60050600	Weak transcription	Spleen	Spleen
19	chr12:60032000-60044200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:60032200-60043200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:60034000-60061600	Weak transcription	Aorta	Aorta
22	chr12:60035000-60044800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:60035400-60038000	Enhancers	Fetal Heart	heart
24	chr12:60036000-60040000	Weak transcription	Fetal Thymus	thymus
25	chr12:60036200-60040000	Weak transcription	Right Ventricle	heart
26	chr12:60036400-60045000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:60036800-60038200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:60037200-60038600	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:60037200-60040400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr12:60037200-60040400	ZNF genes & repeats	GM12878-XiMat	blood
31	chr12:60037400-60039000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:60037400-60040400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:60037400-60042200	Strong transcription	Primary T cells from cord blood	blood
34	chr12:60037400-60045200	Weak transcription	Hela-S3	cervix
35	chr12:60037600-60044600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:60037800-60038600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr12:60037800-60038800	Weak transcription	Primary B cells from cord blood	blood
38	chr12:60037800-60039000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:60037800-60040000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:60037800-60041000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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