Variant report

Variant	rs2025354
Chromosome Location	chr13:76275577-76275578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1092601	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1323710	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1323712	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1408060	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1535730	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1830760	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1924214	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2328953	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2328954	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2328956	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2761398	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34545980	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs479824	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs480929	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4885345	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs502171	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs504273	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs508596	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs528783	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs560069	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs585233	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs607095	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs626182	0.86[EUR][1000 genomes]
rs634729	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs636505	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs636580	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7324353	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7331527	0.80[AMR][1000 genomes]
rs7336908	0.96[ASN][1000 genomes]
rs776527	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7986141	0.95[ASN][1000 genomes]
rs7999158	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8002635	0.95[ASN][1000 genomes]
rs9530463	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9544028	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9544029	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9544034	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9544035	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9565195	0.80[EUR][1000 genomes]
rs9573627	0.95[ASN][1000 genomes]
rs9573647	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv900579	chr13:76244056-76307981	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76259600-76294400	Weak transcription	Ovary	ovary
2	chr13:76259800-76282200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:76260400-76279200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:76261000-76277600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr13:76262400-76278600	Weak transcription	Pancreas	Pancrea
6	chr13:76268000-76279000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:76268800-76277800	Weak transcription	NH-A	brain
8	chr13:76271200-76276200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:76271200-76276400	Weak transcription	Hela-S3	cervix
10	chr13:76271200-76277400	Weak transcription	Stomach Mucosa	stomach
11	chr13:76271400-76278600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr13:76271400-76286000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr13:76272400-76278200	Weak transcription	NHEK	skin
14	chr13:76273400-76277400	Weak transcription	NHDF-Ad	bronchial
15	chr13:76273400-76277800	Weak transcription	Fetal Lung	lung
16	chr13:76274200-76275800	Strong transcription	HSMM	muscle
17	chr13:76274400-76276400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr13:76274600-76275600	Enhancers	Aorta	Aorta
19	chr13:76274600-76275600	Enhancers	Placenta	Placenta
20	chr13:76274600-76276000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:76274600-76280400	Genic enhancers	Osteobl	bone
22	chr13:76274800-76275600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr13:76274800-76275800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:76274800-76275800	Genic enhancers	Muscle Satellite Cultured Cells	--
25	chr13:76274800-76276800	Enhancers	NHLF	lung
26	chr13:76274800-76277400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:76275000-76275600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:76275000-76276200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr13:76275000-76277600	Weak transcription	HSMMtube	muscle
30	chr13:76275200-76275600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr13:76275200-76276200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr13:76275200-76277400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:76275400-76276200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:76275400-76278200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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