Variant report

Variant	rs62254276
Chromosome Location	chr3:53185447-53185448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs35292588	1.00[ASN][1000 genomes]
rs55685362	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62254272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62254273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62254274	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62254277	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62254278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62254279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62254280	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6777221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73087762	0.96[AMR][1000 genomes];0.95[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	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr3:53174800-53189600	Weak transcription	Brain Substantia Nigra	brain
2	chr3:53176400-53188000	Enhancers	Stomach Mucosa	stomach
3	chr3:53177800-53190200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr3:53178000-53189600	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr3:53178600-53190200	Enhancers	Colonic Mucosa	Colon
6	chr3:53179000-53190000	Enhancers	Duodenum Mucosa	Duodenum
7	chr3:53179200-53186400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr3:53181600-53188000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:53181800-53187600	Weak transcription	Brain Anterior Caudate	brain
10	chr3:53182200-53186600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:53182400-53185800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr3:53182400-53185800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr3:53182400-53187800	Weak transcription	Small Intestine	intestine
14	chr3:53182400-53193400	Weak transcription	Psoas Muscle	Psoas
15	chr3:53182400-53193800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:53183200-53194600	Enhancers	Gastric	stomach
17	chr3:53183400-53189000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr3:53183400-53194600	Enhancers	Pancreas	Pancrea
19	chr3:53183600-53185800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:53183600-53186000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:53183600-53186200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr3:53183600-53190600	Enhancers	Liver	Liver
23	chr3:53183800-53185600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:53183800-53185600	Enhancers	HepG2	liver
25	chr3:53183800-53185800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:53183800-53186000	Enhancers	Esophagus	oesophagus
27	chr3:53183800-53186600	Enhancers	Lung	lung
28	chr3:53183800-53189000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:53184200-53194400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr3:53184400-53193800	Enhancers	Adipose Nuclei	Adipose
31	chr3:53184600-53186000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:53184600-53190000	Weak transcription	Spleen	Spleen
33	chr3:53184800-53186000	Enhancers	Hela-S3	cervix
34	chr3:53184800-53187600	Weak transcription	Fetal Intestine Small	intestine
35	chr3:53184800-53187800	Weak transcription	Osteobl	bone
36	chr3:53184800-53188000	Weak transcription	Fetal Intestine Large	intestine
37	chr3:53184800-53188600	Weak transcription	Right Ventricle	heart
38	chr3:53185000-53186000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:53185000-53188000	Weak transcription	Right Atrium	heart
40	chr3:53185000-53188400	Weak transcription	Left Ventricle	heart
41	chr3:53185200-53187800	Weak transcription	HMEC	breast
42	chr3:53185400-53185800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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