Variant report

Variant	rs2368380
Chromosome Location	chr4:53965972-53965973
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10008751	1.00[AMR][1000 genomes]
rs1038356	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13141154	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1564678	1.00[AMR][1000 genomes]
rs1564679	1.00[AMR][1000 genomes]
rs2170690	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2411288	1.00[AMR][1000 genomes]
rs2412405	0.93[AFR][1000 genomes]
rs2898682	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3849655	0.93[AFR][1000 genomes]
rs3910858	0.82[AFR][1000 genomes]
rs4450989	0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4864447	0.84[YRI][hapmap];0.93[AFR][1000 genomes]
rs4864710	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4864719	0.96[AFR][1000 genomes]
rs6554066	0.84[YRI][hapmap];0.93[AFR][1000 genomes]
rs6816741	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6826226	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7659856	0.87[AFR][1000 genomes]
rs7663460	1.00[AMR][1000 genomes]
rs7680196	0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7696426	0.84[YRI][hapmap]

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	chr4:53957200-53967200	Weak transcription	Psoas Muscle	Psoas
2	chr4:53959600-53966200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:53964600-53966000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:53964600-53966000	Enhancers	HMEC	breast
5	chr4:53964600-53966600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:53964600-53966800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:53964600-53966800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:53964600-53967200	Enhancers	HUVEC	blood vessel
9	chr4:53964600-53968400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:53964600-53968400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:53964600-53968400	Enhancers	NHEK	skin
12	chr4:53964800-53966000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:53964800-53966000	Enhancers	NHDF-Ad	bronchial
14	chr4:53964800-53966800	Enhancers	NH-A	brain
15	chr4:53964800-53966800	Enhancers	Osteobl	bone
16	chr4:53964800-53967000	Enhancers	NHLF	lung
17	chr4:53965200-53966600	Weak transcription	HSMM	muscle
18	chr4:53965600-53966000	Enhancers	Ovary	ovary
19	chr4:53965600-53967200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:53965800-53966000	Enhancers	Fetal Stomach	stomach
21	chr4:53965800-53966600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:53965800-53971000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:53965800-53971200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:53965800-53971800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:53965800-53986000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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