Variant report

Variant	rs624298
Chromosome Location	chr1:57374534-57374535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs635833	0.82[JPT][hapmap]
rs652553	0.82[JPT][hapmap];0.88[MEX][hapmap]
rs676480	0.81[JPT][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs624298	DAB1	cis	cerebellum	SCAN
rs624298	SSBP3	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57364200-57375600	Weak transcription	Pancreas	Pancrea
2	chr1:57364600-57376200	Weak transcription	Stomach Mucosa	stomach
3	chr1:57367200-57378400	Enhancers	Liver	Liver
4	chr1:57370800-57374600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:57371000-57376200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:57371800-57376000	Weak transcription	Gastric	stomach
7	chr1:57372800-57377800	Enhancers	Fetal Intestine Large	intestine
8	chr1:57373000-57376000	Enhancers	HepG2	liver
9	chr1:57373200-57377800	Enhancers	Fetal Intestine Small	intestine
10	chr1:57373600-57376000	Enhancers	Duodenum Mucosa	Duodenum
11	chr1:57373600-57377200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:57373600-57377800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:57373800-57377800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:57373800-57377800	Enhancers	NHDF-Ad	bronchial
15	chr1:57374000-57375400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:57374000-57377000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:57374400-57374800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:57374400-57374800	Enhancers	NHLF	lung
19	chr1:57374400-57376600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:57374400-57377200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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