Variant report

Variant	rs9480514
Chromosome Location	chr6:150992337-150992338
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12664686	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17080073	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17080089	0.89[AFR][1000 genomes]
rs17080091	0.88[AFR][1000 genomes]
rs17080093	0.89[AFR][1000 genomes]
rs17080108	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2345745	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4869926	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4869927	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4869928	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4869929	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4869930	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4869931	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55646755	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57139556	0.89[AFR][1000 genomes]
rs58824807	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59466561	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62434122	0.87[AFR][1000 genomes]
rs62434123	0.89[AFR][1000 genomes]
rs62434124	0.87[AFR][1000 genomes]
rs6899782	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6908127	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6929743	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73010188	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9478775	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9478780	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9478783	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9480526	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9480528	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9480529	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9480530	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9480531	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9480533	0.83[AMR][1000 genomes]
rs9885650	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9885699	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9885836	0.86[AMR][1000 genomes];0.82[EUR][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:42 , 50 per page) page: 1

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	chr6:150987600-150994800	Weak transcription	Lung	lung
5	chr6:150987600-151002800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:150987800-150994400	Weak transcription	Esophagus	oesophagus
7	chr6:150987800-151001400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:150988000-150994400	Weak transcription	Placenta	Placenta
9	chr6:150989400-151007800	Weak transcription	Ovary	ovary
10	chr6:150990400-150993600	Weak transcription	Fetal Brain Female	brain
11	chr6:150990400-150995400	Weak transcription	Stomach Mucosa	stomach
12	chr6:150990400-151003200	Weak transcription	Left Ventricle	heart
13	chr6:150990600-150992600	Weak transcription	Thymus	Thymus
14	chr6:150990600-150993000	Weak transcription	Small Intestine	intestine
15	chr6:150990600-150994000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:150990600-150994000	Weak transcription	Brain Angular Gyrus	brain
17	chr6:150990600-150994000	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:150990600-150994000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:150990600-150994200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:150990600-150994200	Weak transcription	Fetal Kidney	kidney
21	chr6:150990600-150994400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:150990600-150994400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:150990600-150994600	Weak transcription	Fetal Brain Male	brain
24	chr6:150990600-151002800	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:150990600-151008800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:150990600-151016600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:150990800-150992800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:150990800-150993400	Weak transcription	Liver	Liver
29	chr6:150990800-150993600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr6:150990800-150993800	Weak transcription	Fetal Lung	lung
31	chr6:150990800-150994200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:150990800-150994400	Weak transcription	Fetal Intestine Small	intestine
33	chr6:150990800-150997800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:150990800-150998000	Weak transcription	Fetal Stomach	stomach
35	chr6:150990800-151003200	Weak transcription	Adipose Nuclei	Adipose
36	chr6:150990800-151011800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:150991000-150992400	Strong transcription	Fetal Thymus	thymus
38	chr6:150991200-150994000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:150991200-150994200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr6:150991400-150993000	Strong transcription	Primary B cells from cord blood	blood
41	chr6:150991600-150994400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr6:150991800-150994400	Weak transcription	Spleen	Spleen

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