Variant report

Variant	rs17080012
Chromosome Location	chr6:150953942-150953943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150947452..150949419-chr6:150952657..150955576,2	MCF-7	breast:
2	chr6:150952990..150955187-chr6:150959095..150960724,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11968779	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs1352975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs201531	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2345668	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2345669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs275348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4323318	1.00[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs4400227	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4530869	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs4869921	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs4869922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs4869924	1.00[JPT][hapmap]
rs4869932	1.00[JPT][hapmap]
rs4870533	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs4870534	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs4870535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs4870537	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs62432653	0.82[EUR][1000 genomes]
rs62432656	0.93[EUR][1000 genomes]
rs62432657	0.93[EUR][1000 genomes]
rs62432658	0.93[EUR][1000 genomes]
rs62432659	0.93[EUR][1000 genomes]
rs62434060	0.93[EUR][1000 genomes]
rs62434061	0.93[EUR][1000 genomes]
rs62434062	0.93[EUR][1000 genomes]
rs62434064	0.95[EUR][1000 genomes]
rs62434092	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62434093	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62434094	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62434095	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62434096	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62434097	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62434098	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62434099	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62434100	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62434101	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62434102	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62434103	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62434104	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73002187	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73002188	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73002195	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73004311	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73016045	0.97[EUR][1000 genomes]
rs73016054	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9478767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs9478768	0.93[EUR][1000 genomes]
rs9478769	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs9478770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs9478771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs9478772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9478773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9478774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9478777	1.00[JPT][hapmap]
rs9480490	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs9480492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs9480493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs9480494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs9480495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs9480496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs9480497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs9480499	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9480503	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9480505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9480511	1.00[JPT][hapmap]
rs9480516	1.00[JPT][hapmap]
rs9480517	1.00[JPT][hapmap]
rs9480518	1.00[JPT][hapmap]
rs9480521	1.00[JPT][hapmap]
rs9480522	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886772	chr6:150743364-151024280	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv886774	chr6:150931131-150983318	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150939000-150954200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr6:150941800-150954000	Weak transcription	Brain Angular Gyrus	brain
3	chr6:150941800-150962600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:150945000-150954200	Weak transcription	Aorta	Aorta
5	chr6:150947600-150957400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:150947800-150959400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:150949000-150958000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:150949200-150955000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:150950200-150954400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:150950200-150954400	Weak transcription	Fetal Heart	heart
11	chr6:150951200-150954000	Enhancers	Thymus	Thymus
12	chr6:150951200-150955000	Enhancers	Fetal Intestine Small	intestine
13	chr6:150951400-150954200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr6:150951400-150954400	Enhancers	Spleen	Spleen
15	chr6:150951800-150955000	Enhancers	Placenta	Placenta
16	chr6:150951800-150955000	Enhancers	Lung	lung
17	chr6:150951800-150955200	Enhancers	Left Ventricle	heart
18	chr6:150952000-150955000	Enhancers	Primary T cells from cord blood	blood
19	chr6:150952000-150955000	Enhancers	Fetal Lung	lung
20	chr6:150952000-150955000	Enhancers	Small Intestine	intestine
21	chr6:150952200-150954200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:150952400-150955400	Enhancers	Fetal Muscle Trunk	muscle
23	chr6:150952400-150955800	Enhancers	Fetal Stomach	stomach
24	chr6:150952600-150954000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr6:150952600-150954000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:150952600-150954000	Enhancers	Adipose Nuclei	Adipose
27	chr6:150952600-150954000	Flanking Active TSS	GM12878-XiMat	blood
28	chr6:150952600-150954600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr6:150952600-150954800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr6:150952600-150955000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:150952600-150956000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr6:150952800-150954400	Enhancers	HepG2	liver
33	chr6:150952800-150954800	Enhancers	Colonic Mucosa	Colon
34	chr6:150952800-150955000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr6:150952800-150955200	Enhancers	Esophagus	oesophagus
36	chr6:150952800-150955200	Enhancers	Fetal Muscle Leg	muscle
37	chr6:150953000-150954000	Enhancers	Primary hematopoietic stem cells	blood
38	chr6:150953000-150954000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr6:150953000-150955200	Enhancers	Fetal Intestine Large	intestine
40	chr6:150953200-150954000	Enhancers	Stomach Smooth Muscle	stomach
41	chr6:150953200-150954400	Weak transcription	Pancreas	Pancrea
42	chr6:150953200-150954800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr6:150953200-150957800	Enhancers	Fetal Kidney	kidney
44	chr6:150953400-150954000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr6:150953600-150954000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr6:150953600-150954000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:150953600-150954000	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr6:150953600-150954200	Enhancers	Brain Germinal Matrix	brain
49	chr6:150953600-150954200	Enhancers	Fetal Thymus	thymus
50	chr6:150953600-150954600	Enhancers	Brain Substantia Nigra	brain

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