Variant report

Variant	rs1591415
Chromosome Location	chr13:80316224-80316225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1335278	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1335283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1335376	1.00[AMR][1000 genomes]
rs1414112	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1885817	1.00[AMR][1000 genomes]
rs1953338	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2027150	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2146589	1.00[AMR][1000 genomes]
rs2146591	1.00[AMR][1000 genomes]
rs2208939	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2208940	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2208941	1.00[AMR][1000 genomes]
rs2208944	1.00[AMR][1000 genomes]
rs2224691	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2484341	1.00[AMR][1000 genomes]
rs2484342	1.00[AMR][1000 genomes]
rs2760109	1.00[AMR][1000 genomes]
rs2760110	1.00[AMR][1000 genomes]
rs2783091	1.00[AMR][1000 genomes]
rs2783128	1.00[AMR][1000 genomes]
rs2802635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4885648	1.00[AMR][1000 genomes]
rs4885654	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6563118	1.00[AMR][1000 genomes]
rs6563126	1.00[AMR][1000 genomes]
rs7332248	1.00[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	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1039333	chr13:80289936-80333167	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80309800-80324400	Weak transcription	Right Atrium	heart
2	chr13:80310400-80319400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:80311400-80318400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:80311400-80324000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:80311600-80317000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:80311600-80323800	Weak transcription	HMEC	breast
7	chr13:80315400-80317000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:80315400-80317000	Weak transcription	Esophagus	oesophagus
9	chr13:80315400-80317000	Weak transcription	Ovary	ovary
10	chr13:80315400-80317000	Weak transcription	NHEK	skin
11	chr13:80315400-80319400	Weak transcription	Left Ventricle	heart
12	chr13:80315400-80323000	Weak transcription	Fetal Muscle Leg	muscle
13	chr13:80315400-80324400	Weak transcription	Pancreas	Pancrea
14	chr13:80315400-80324400	Weak transcription	Small Intestine	intestine
15	chr13:80315600-80317200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:80315800-80318800	Weak transcription	Fetal Stomach	stomach
17	chr13:80315800-80323000	Weak transcription	Fetal Heart	heart
18	chr13:80315800-80324600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr13:80316000-80317800	Enhancers	Hela-S3	cervix
20	chr13:80316200-80317200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr13:80316200-80318800	Weak transcription	Fetal Kidney	kidney

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