Variant report

Variant	rs73138943
Chromosome Location	chr7:40508020-40508021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10486806	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17433681	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17433827	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55817347	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55964496	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56037112	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56090338	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6948150	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73122141	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73122144	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73138916	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73138938	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73138940	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7809620	0.90[EUR][1000 genomes]
rs7810098	0.93[AMR][1000 genomes];0.97[EUR][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	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
2	nsv887985	chr7:40265510-40586674	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv817404	chr7:40295934-40573605	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv949540	chr7:40321357-40528147	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv830969	chr7:40422576-40582389	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1017615	chr7:40445480-40570791	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1029342	chr7:40489083-40542933	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv5711	chr7:40490519-40512988	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1030515	chr7:40501867-40634808	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40502800-40508600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:40503400-40508200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:40503400-40508400	Weak transcription	NHLF	lung
4	chr7:40503600-40508400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:40503600-40508800	Weak transcription	Aorta	Aorta
6	chr7:40507400-40508800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:40507600-40508800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:40507600-40508800	Enhancers	Osteobl	bone
9	chr7:40507600-40509200	Weak transcription	Fetal Lung	lung
10	chr7:40507600-40510400	Enhancers	NHDF-Ad	bronchial
11	chr7:40507800-40509600	Enhancers	NH-A	brain
12	chr7:40508000-40510400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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