Variant report

Variant	rs55913371
Chromosome Location	chr7:40233930-40233931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1082021	1.00[AMR][1000 genomes]
rs1082022	1.00[AMR][1000 genomes]
rs1082024	1.00[AMR][1000 genomes]
rs1082026	1.00[AMR][1000 genomes]
rs1082027	1.00[AMR][1000 genomes]
rs1082033	1.00[AMR][1000 genomes]
rs12113257	1.00[AMR][1000 genomes]
rs12113345	1.00[AMR][1000 genomes]
rs1257697	1.00[AMR][1000 genomes]
rs1257711	1.00[AMR][1000 genomes]
rs1314087	1.00[AMR][1000 genomes]
rs55825872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56684313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58681548	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73687511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73687519	1.00[AMR][1000 genomes]
rs73687565	1.00[AMR][1000 genomes]
rs773380	1.00[AMR][1000 genomes]
rs773387	1.00[AMR][1000 genomes]
rs773388	1.00[AMR][1000 genomes]
rs773394	1.00[AMR][1000 genomes]
rs773396	1.00[AMR][1000 genomes]
rs773400	1.00[AMR][1000 genomes]
rs773401	1.00[AMR][1000 genomes]
rs773408	1.00[AMR][1000 genomes]
rs773418	1.00[AMR][1000 genomes]
rs773419	1.00[AMR][1000 genomes]
rs773420	1.00[AMR][1000 genomes]
rs773421	1.00[AMR][1000 genomes]
rs773422	1.00[AMR][1000 genomes]
rs773423	1.00[AMR][1000 genomes]
rs808913	1.00[AMR][1000 genomes]
rs9942572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv464438	chr7:40193535-40350887	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv606710	chr7:40193535-40350887	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1019032	chr7:40204606-40280323	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv887983	chr7:40211563-40284166	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv606711	chr7:40225129-40360257	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv887984	chr7:40227307-40284166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40215400-40234000	Weak transcription	HSMMtube	muscle
2	chr7:40215600-40234200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:40215600-40234200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:40215800-40234000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:40221600-40259800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr7:40222600-40256800	Weak transcription	Fetal Intestine Large	intestine
7	chr7:40224200-40256200	Weak transcription	Fetal Intestine Small	intestine
8	chr7:40225400-40239600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:40226200-40245400	Weak transcription	Left Ventricle	heart
10	chr7:40226400-40237000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:40226400-40237000	Weak transcription	Fetal Stomach	stomach
12	chr7:40228400-40247800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:40229000-40238800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:40230200-40237000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:40230800-40257000	Weak transcription	Liver	Liver
16	chr7:40232400-40234200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:40232600-40240000	Weak transcription	Aorta	Aorta
18	chr7:40233600-40234600	Enhancers	NHEK	skin
19	chr7:40233600-40235600	Enhancers	HSMM	muscle
20	chr7:40233800-40234200	Enhancers	Ovary	ovary
21	chr7:40233800-40234600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:40233800-40234600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:40233800-40234600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:40233800-40235200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:40233800-40235200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:40233800-40241400	Enhancers	Muscle Satellite Cultured Cells	--

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