Variant report

Variant	rs17080069
Chromosome Location	chr6:150989698-150989699
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	chr6:150985836..150987762-chr6:150988980..150990804,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12661140	1.00[CEU][hapmap];0.91[AMR][1000 genomes]
rs12663498	0.87[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs12664595	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1494308	0.85[CEU][hapmap]
rs17080057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17080062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17080087	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17080089	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17080091	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17080093	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17080102	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57139556	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59155780	0.91[EUR][1000 genomes]
rs62434109	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62434110	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62434111	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62434119	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62434120	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62434122	0.89[AMR][1000 genomes]
rs62434123	0.89[AMR][1000 genomes]
rs62434124	0.89[AMR][1000 genomes]
rs62434125	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62434129	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs654698	0.85[CEU][hapmap];0.94[MEX][hapmap]
rs6929935	0.85[CEU][hapmap]
rs7776166	0.82[MEX][hapmap]
rs9322273	0.85[CEU][hapmap];0.82[AMR][1000 genomes]
rs9322274	0.85[CEU][hapmap];0.82[AMR][1000 genomes]
rs9322277	0.80[AMR][1000 genomes]
rs9397343	0.82[AMR][1000 genomes]

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	nsv1030326	chr6:150967665-151641372	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150975600-151002800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:150980600-151008800	Weak transcription	Gastric	stomach
3	chr6:150980800-151014800	Weak transcription	Pancreas	Pancrea
4	chr6:150986000-150990800	Enhancers	Fetal Stomach	stomach
5	chr6:150987600-150990600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:150987600-150990600	Enhancers	Fetal Kidney	kidney
7	chr6:150987600-150994800	Weak transcription	Lung	lung
8	chr6:150987600-151002800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:150987800-150990200	Weak transcription	Right Atrium	heart
10	chr6:150987800-150991600	Weak transcription	Spleen	Spleen
11	chr6:150987800-150994400	Weak transcription	Esophagus	oesophagus
12	chr6:150987800-151001400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:150988000-150994400	Weak transcription	Placenta	Placenta
14	chr6:150988200-150990600	Enhancers	Brain Hippocampus Middle	brain
15	chr6:150988200-150990600	Enhancers	Colon Smooth Muscle	Colon
16	chr6:150988200-150990800	Enhancers	Adipose Nuclei	Adipose
17	chr6:150988400-150990400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:150988400-150990600	Enhancers	Fetal Heart	heart
19	chr6:150988400-150990600	Enhancers	Rectal Smooth Muscle	rectum
20	chr6:150988400-150990800	Enhancers	Brain Substantia Nigra	brain
21	chr6:150988400-150990800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr6:150988400-150990800	Enhancers	Fetal Lung	lung
23	chr6:150988600-150990600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:150988600-150990600	Enhancers	Duodenum Mucosa	Duodenum
25	chr6:150988600-150990800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:150988600-150990800	Enhancers	Fetal Intestine Small	intestine
27	chr6:150988800-150990400	Enhancers	Fetal Brain Female	brain
28	chr6:150988800-150990400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:150988800-150990400	Enhancers	Stomach Mucosa	stomach
30	chr6:150988800-150990400	Enhancers	NHEK	skin
31	chr6:150988800-150990600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:150988800-150990600	Enhancers	Brain Cingulate Gyrus	brain
33	chr6:150988800-150990600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr6:150988800-150990600	Enhancers	Fetal Brain Male	brain
35	chr6:150988800-150990600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr6:150988800-150990600	Enhancers	HMEC	breast
37	chr6:150989000-150990200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:150989000-150990200	Enhancers	Brain Germinal Matrix	brain
39	chr6:150989000-150990200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:150989000-150990400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:150989000-150990400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:150989000-150990600	Enhancers	HepG2	liver
43	chr6:150989000-150990600	Enhancers	NH-A	brain
44	chr6:150989000-150990800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr6:150989200-150990400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:150989200-150990400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:150989200-150990400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:150989200-150990400	Enhancers	Left Ventricle	heart
49	chr6:150989200-150990600	Enhancers	Fetal Muscle Leg	muscle
50	chr6:150989200-150990600	Enhancers	Fetal Thymus	thymus

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