Variant report

Variant	rs2532970
Chromosome Location	chr13:50895530-50895531
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50886873..50888479-chr13:50894394..50897216,2	K562	blood:
2	chr13:50699318..50701616-chr13:50893692..50896245,2	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1149858	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1262865	0.88[EUR][1000 genomes]
rs1326125	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2109236	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2159440	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2532966	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2532967	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2532969	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2580182	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2580183	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2740531	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2740534	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2740535	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2740538	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2740540	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2762055	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2762057	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2762059	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2762061	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2762064	0.88[ASN][1000 genomes]
rs2812200	0.81[ASN][1000 genomes]
rs2812212	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3990215	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4942914	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv561632	chr13:50874346-50912578	Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50892400-50895600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:50892600-50895600	Enhancers	Primary T cells from cord blood	blood
3	chr13:50892600-50896200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr13:50892800-50896000	Enhancers	HepG2	liver
5	chr13:50893400-50898200	Weak transcription	Left Ventricle	heart
6	chr13:50893600-50896600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr13:50894000-50895800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr13:50894200-50896400	Enhancers	Dnd41	blood
9	chr13:50894600-50897600	Weak transcription	NH-A	brain
10	chr13:50894600-50897600	Weak transcription	NHEK	skin
11	chr13:50894600-50900600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:50894800-50897600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:50894800-50897600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:50894800-50897600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:50895000-50896000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr13:50895000-50897200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:50895000-50897200	Weak transcription	NHLF	lung
18	chr13:50895000-50897600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:50895000-50897600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:50895000-50897600	Weak transcription	HMEC	breast
21	chr13:50895000-50900200	Weak transcription	Fetal Thymus	thymus
22	chr13:50895200-50897200	Weak transcription	NHDF-Ad	bronchial
23	chr13:50895200-50897400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr13:50895200-50897600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:50895200-50897600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:50895200-50897600	Weak transcription	Osteobl	bone
27	chr13:50895400-50897600	Weak transcription	HUVEC	blood vessel

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