Variant report

Variant	rs4700216
Chromosome Location	chr5:57019110-57019111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10063185	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10940575	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13162397	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2041677	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2408847	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4141129	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4700217	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9292141	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57012800-57020000	Weak transcription	NHEK	skin
2	chr5:57014400-57020000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:57014800-57019400	Weak transcription	NHLF	lung
4	chr5:57015400-57020200	Weak transcription	NHDF-Ad	bronchial
5	chr5:57016000-57020000	Weak transcription	HSMM	muscle
6	chr5:57016600-57020400	Weak transcription	A549	lung
7	chr5:57016600-57021400	Weak transcription	Aorta	Aorta
8	chr5:57016800-57020200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:57016800-57020600	Weak transcription	NH-A	brain
10	chr5:57017000-57020200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:57017000-57020600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:57017000-57020800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:57017000-57021400	Weak transcription	HSMMtube	muscle
14	chr5:57017200-57020200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:57017400-57020400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:57017400-57020800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:57018400-57020400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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