Variant report

Variant	rs478500
Chromosome Location	chr15:49497849-49497850
allele	C/T
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:37)

rs_ID	r²[population]
rs11070685	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12437486	0.80[AFR][1000 genomes]
rs12591134	0.82[AFR][1000 genomes]
rs12591875	0.81[AFR][1000 genomes]
rs12898461	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12898877	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs12903992	0.89[CEU][hapmap]
rs12914592	0.88[CEU][hapmap]
rs12915792	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12916078	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1583060	0.89[CEU][hapmap]
rs16962418	1.00[CEU][hapmap]
rs16962419	0.89[CEU][hapmap]
rs2244224	0.81[AFR][1000 genomes]
rs2439132	0.87[AFR][1000 genomes]
rs2457227	0.86[AFR][1000 genomes]
rs28653543	0.80[AFR][1000 genomes]
rs28871982	0.81[AFR][1000 genomes]
rs34505850	0.86[EUR][1000 genomes]
rs35274049	0.98[EUR][1000 genomes]
rs4775801	0.87[AFR][1000 genomes]
rs481466	0.80[AFR][1000 genomes]
rs577614	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6493351	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493366	0.89[CEU][hapmap]
rs6493367	0.89[CEU][hapmap]
rs71394957	0.81[EUR][1000 genomes]
rs71467666	0.98[EUR][1000 genomes]
rs71467668	0.98[EUR][1000 genomes]
rs7166491	0.89[EUR][1000 genomes]
rs7169443	0.80[AFR][1000 genomes]
rs7177959	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8026364	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8029538	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs8036293	0.98[EUR][1000 genomes]
rs8040116	0.89[CEU][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9806362	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039220	chr15:49492509-49644261	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr15:49463200-49508200	Weak transcription	Ovary	ovary
2	chr15:49463600-49517600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:49463600-49527800	Weak transcription	HSMM	muscle
4	chr15:49463600-49540200	Weak transcription	Colonic Mucosa	Colon
5	chr15:49464400-49500000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:49465400-49508200	Weak transcription	Hela-S3	cervix
7	chr15:49480000-49510600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:49480200-49500200	Weak transcription	Spleen	Spleen
9	chr15:49480200-49502000	Weak transcription	Aorta	Aorta
10	chr15:49480200-49503800	Weak transcription	Esophagus	oesophagus
11	chr15:49480600-49503800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr15:49481600-49498600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:49484200-49519400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:49487000-49510600	Weak transcription	Thymus	Thymus
15	chr15:49487200-49531200	Weak transcription	HMEC	breast
16	chr15:49489200-49508000	Weak transcription	Gastric	stomach
17	chr15:49489400-49508200	Weak transcription	Pancreas	Pancrea
18	chr15:49489800-49499000	Weak transcription	Dnd41	blood
19	chr15:49490000-49499400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr15:49490800-49508400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:49491400-49498000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:49491400-49510600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:49492000-49517600	Weak transcription	NHLF	lung
24	chr15:49492000-49520000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr15:49492000-49527800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr15:49492000-49530200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr15:49492000-49539400	Weak transcription	Small Intestine	intestine
28	chr15:49492200-49499600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr15:49492200-49499600	Weak transcription	Fetal Lung	lung
30	chr15:49492200-49512800	Weak transcription	NHDF-Ad	bronchial
31	chr15:49492600-49503800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:49492800-49498000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr15:49492800-49514600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr15:49493000-49503800	Weak transcription	Brain Hippocampus Middle	brain
35	chr15:49493000-49520000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:49493800-49498200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:49494000-49518600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr15:49494400-49506000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:49494800-49499000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:49494800-49501200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr15:49495000-49498200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr15:49495000-49499800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr15:49495000-49500600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:49495000-49503000	Weak transcription	Fetal Thymus	thymus
45	chr15:49495000-49509400	Weak transcription	K562	blood
46	chr15:49495000-49510600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:49495000-49515600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr15:49495000-49515800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr15:49495000-49518000	Weak transcription	Placenta	Placenta
50	chr15:49495200-49499400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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