Variant report

Variant	rs7694536
Chromosome Location	chr4:53967048-53967049
allele	A/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:42)

rs_ID	r²[population]
rs17082212	1.00[AMR][1000 genomes]
rs17082290	1.00[AMR][1000 genomes]
rs17082420	1.00[AMR][1000 genomes]
rs28817423	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4386657	1.00[AMR][1000 genomes]
rs57223947	1.00[AMR][1000 genomes]
rs57470249	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57632491	1.00[AMR][1000 genomes]
rs57968004	1.00[AMR][1000 genomes]
rs59033313	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59033992	1.00[AMR][1000 genomes]
rs59945377	1.00[AMR][1000 genomes]
rs60967961	1.00[AMR][1000 genomes]
rs61689349	1.00[AMR][1000 genomes]
rs6815750	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6817299	1.00[AMR][1000 genomes]
rs6828460	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6829771	0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs6854759	1.00[AMR][1000 genomes]
rs6855857	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73141439	1.00[AMR][1000 genomes]
rs73141441	1.00[AMR][1000 genomes]
rs73141448	1.00[AMR][1000 genomes]
rs73143431	1.00[AMR][1000 genomes]
rs73143436	1.00[AMR][1000 genomes]
rs73144927	1.00[AMR][1000 genomes]
rs73144941	1.00[AMR][1000 genomes]
rs73144946	1.00[AMR][1000 genomes]
rs73144995	1.00[AMR][1000 genomes]
rs73149135	1.00[AMR][1000 genomes]
rs73149140	1.00[AMR][1000 genomes]
rs73149142	1.00[AMR][1000 genomes]
rs73149168	1.00[AMR][1000 genomes]
rs73149170	1.00[AMR][1000 genomes]
rs73149171	1.00[AMR][1000 genomes]
rs7441164	1.00[AMR][1000 genomes]
rs7664855	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7674948	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7683505	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7693228	1.00[AMR][1000 genomes]
rs7696803	1.00[AMR][1000 genomes]
rs7696943	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	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53957200-53967200	Weak transcription	Psoas Muscle	Psoas
2	chr4:53964600-53967200	Enhancers	HUVEC	blood vessel
3	chr4:53964600-53968400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:53964600-53968400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:53964600-53968400	Enhancers	NHEK	skin
6	chr4:53965600-53967200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:53965800-53971000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:53965800-53971200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:53965800-53971800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:53965800-53986000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:53966000-53975000	Weak transcription	Fetal Stomach	stomach
12	chr4:53966200-53968200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:53966600-53967200	Enhancers	HSMM	muscle
14	chr4:53966600-53967400	Enhancers	Fetal Lung	lung
15	chr4:53966600-53967600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:53966800-53967200	Active TSS	Ovary	ovary
17	chr4:53966800-53967400	Enhancers	HSMMtube	muscle
18	chr4:53966800-53967600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:53966800-53967600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr4:53966800-53967600	Flanking Active TSS	NH-A	brain
21	chr4:53966800-53967600	Flanking Active TSS	Osteobl	bone
22	chr4:53966800-53968400	Enhancers	HMEC	breast
23	chr4:53967000-53967200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:53967000-53967600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:53967000-53967600	Flanking Active TSS	NHDF-Ad	bronchial
26	chr4:53967000-53968000	Enhancers	Fetal Heart	heart
27	chr4:53967000-53968000	Flanking Active TSS	NHLF	lung
28	chr4:53967000-53968400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:53967000-53968400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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