Variant report

Variant	rs9968315
Chromosome Location	chr4:54050635-54050636
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]
rs10517283	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133245	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13122159	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13140358	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17703292	0.86[EUR][1000 genomes]
rs28458206	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28467481	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898961	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34421599	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71597822	0.93[ASN][1000 genomes]
rs9998819	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[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	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54004200-54052200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:54011600-54052200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:54036600-54052200	Weak transcription	HSMM	muscle
4	chr4:54038800-54054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:54039800-54052200	Weak transcription	HSMMtube	muscle
6	chr4:54040000-54052200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:54040000-54052200	Weak transcription	NHDF-Ad	bronchial
8	chr4:54040600-54052000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:54043200-54077000	Weak transcription	Primary T cells from cord blood	blood
10	chr4:54044600-54050800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:54046400-54052400	Weak transcription	NH-A	brain
12	chr4:54048000-54086000	Weak transcription	GM12878-XiMat	blood
13	chr4:54048600-54052200	Weak transcription	Fetal Heart	heart
14	chr4:54048800-54051600	Weak transcription	Aorta	Aorta
15	chr4:54048800-54052000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:54048800-54052000	Weak transcription	Osteobl	bone
17	chr4:54049200-54051600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr4:54049200-54052000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:54049800-54053600	Weak transcription	NHLF	lung
20	chr4:54050000-54051000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr4:54050000-54053000	Strong transcription	Primary B cells from cord blood	blood
22	chr4:54050200-54052200	Weak transcription	K562	blood
23	chr4:54050200-54061800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:54050400-54062400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:54050600-54051600	Weak transcription	Ovary	ovary

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