Variant report

Variant	rs73923305
Chromosome Location	chr2:31168431-31168432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1520320	1.00[EUR][1000 genomes]
rs17010291	1.00[EUR][1000 genomes]
rs17010400	1.00[EUR][1000 genomes]
rs17010520	1.00[EUR][1000 genomes]
rs2364443	1.00[EUR][1000 genomes]
rs58134239	1.00[EUR][1000 genomes]
rs61192561	1.00[EUR][1000 genomes]
rs72867186	1.00[EUR][1000 genomes]
rs73921200	1.00[EUR][1000 genomes]
rs73921202	1.00[EUR][1000 genomes]
rs73922696	1.00[EUR][1000 genomes]
rs73923309	1.00[AMR][1000 genomes];1.00[EUR][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	nsv833659	chr2:31020572-31171505	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31122800-31191400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:31145000-31179800	Weak transcription	Esophagus	oesophagus
3	chr2:31147000-31171000	Weak transcription	A549	lung
4	chr2:31147600-31213000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:31152400-31171200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:31152400-31173400	Weak transcription	Fetal Brain Female	brain
7	chr2:31152400-31191600	Weak transcription	HMEC	breast
8	chr2:31154800-31171200	Weak transcription	Primary B cells from cord blood	blood
9	chr2:31156000-31221400	Weak transcription	Pancreas	Pancrea
10	chr2:31156200-31170400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:31157200-31170800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:31159800-31170600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:31162600-31176600	Weak transcription	Fetal Brain Male	brain
14	chr2:31163800-31169400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:31166400-31169200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:31167000-31169200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:31167400-31169400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:31167800-31180200	Weak transcription	NHEK	skin

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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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