Variant report

Variant	rs73390620
Chromosome Location	chr15:40305615-40305616
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11633992	0.93[EUR][1000 genomes]
rs12050693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12050884	0.97[ASN][1000 genomes]
rs12591670	0.93[EUR][1000 genomes]
rs12901892	0.93[EUR][1000 genomes]
rs16970168	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16970197	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16970202	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2279580	0.94[ASN][1000 genomes]
rs2291623	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412460	0.83[ASN][1000 genomes]
rs2898974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924407	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4924408	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58367544	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8034578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr15:40291600-40305800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:40291800-40305800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:40292000-40306600	Strong transcription	Duodenum Smooth Muscle	Duodenum
5	chr15:40292400-40305800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:40292600-40306400	Strong transcription	Primary T cells from cord blood	blood
7	chr15:40292800-40306400	Strong transcription	Adipose Nuclei	Adipose
8	chr15:40293000-40306600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr15:40293000-40306800	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr15:40293000-40315000	Strong transcription	Stomach Smooth Muscle	stomach
11	chr15:40293200-40306000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr15:40293200-40306200	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr15:40294400-40305800	Strong transcription	Fetal Thymus	thymus
14	chr15:40294400-40306400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr15:40295000-40306200	Strong transcription	NHEK	skin
16	chr15:40296000-40311400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr15:40296200-40306200	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr15:40296200-40313000	Weak transcription	Psoas Muscle	Psoas
19	chr15:40296400-40306400	Weak transcription	Stomach Mucosa	stomach
20	chr15:40296400-40313200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr15:40296400-40325200	Weak transcription	Hela-S3	cervix
22	chr15:40298400-40306200	Strong transcription	Placenta	Placenta
23	chr15:40298800-40306200	Strong transcription	HepG2	liver
24	chr15:40298800-40306400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:40299000-40306600	Strong transcription	Fetal Lung	lung
26	chr15:40299000-40306600	Strong transcription	Left Ventricle	heart
27	chr15:40299000-40307000	Strong transcription	NHLF	lung
28	chr15:40299000-40308400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:40299200-40306200	Strong transcription	Fetal Intestine Large	intestine
30	chr15:40299400-40306600	Strong transcription	Rectal Smooth Muscle	rectum
31	chr15:40299600-40306000	Strong transcription	Fetal Stomach	stomach
32	chr15:40299600-40306200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr15:40299600-40307000	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr15:40300200-40306400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:40301000-40305800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:40301000-40306600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:40301000-40311600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:40301000-40322000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr15:40301200-40306200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr15:40301200-40313000	Weak transcription	K562	blood
41	chr15:40301200-40313200	Weak transcription	Fetal Heart	heart
42	chr15:40301400-40305800	Weak transcription	Fetal Brain Male	brain
43	chr15:40301600-40306000	Weak transcription	Spleen	Spleen
44	chr15:40301800-40311200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr15:40302000-40306800	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr15:40302400-40306000	Strong transcription	Ovary	ovary
47	chr15:40302400-40306400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:40302400-40306400	Strong transcription	Brain Cingulate Gyrus	brain
49	chr15:40302400-40306800	Strong transcription	Pancreas	Pancrea
50	chr15:40302400-40307200	Strong transcription	HUVEC	blood vessel

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