Variant report

Variant	rs1999133
Chromosome Location	chr1:57365245-57365246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12096073	1.00[AMR][1000 genomes]
rs61350393	1.00[AMR][1000 genomes]
rs6661831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6662705	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6670243	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692425	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6697608	1.00[AMR][1000 genomes]
rs6703039	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57362200-57365800	Enhancers	HepG2	liver
2	chr1:57362400-57369000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:57363800-57367200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:57363800-57367400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:57364000-57367000	Weak transcription	NHDF-Ad	bronchial
6	chr1:57364000-57367200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:57364000-57367600	Weak transcription	Hela-S3	cervix
8	chr1:57364200-57375600	Weak transcription	Pancreas	Pancrea
9	chr1:57364600-57366200	Enhancers	Fetal Intestine Small	intestine
10	chr1:57364600-57370400	Weak transcription	Gastric	stomach
11	chr1:57364600-57376200	Weak transcription	Stomach Mucosa	stomach
12	chr1:57365200-57365400	Enhancers	Fetal Brain Male	brain
13	chr1:57365200-57365800	Enhancers	Fetal Intestine Large	intestine
14	chr1:57365200-57366000	Strong transcription	Liver	Liver

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

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