Variant report

Variant	rs2112940
Chromosome Location	chr5:54291538-54291539
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72762223	1.00[ASN][1000 genomes]
rs72762225	1.00[ASN][1000 genomes]
rs72762245	1.00[ASN][1000 genomes]
rs72764143	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][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	nsv830301	chr5:54225874-54423505	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54286400-54300000	Weak transcription	Primary T cells from cord blood	blood
2	chr5:54287400-54292400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:54287600-54292000	Weak transcription	HSMMtube	muscle
4	chr5:54287600-54292000	Weak transcription	NH-A	brain
5	chr5:54287600-54292000	Weak transcription	Osteobl	bone
6	chr5:54287600-54302600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:54287800-54293000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:54287800-54299400	Weak transcription	NHLF	lung
9	chr5:54288000-54292000	Weak transcription	NHDF-Ad	bronchial
10	chr5:54288000-54292200	Weak transcription	HSMM	muscle
11	chr5:54289400-54293600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:54289600-54292000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:54289600-54292200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:54289800-54292000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:54290000-54291800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:54290000-54293400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:54290000-54293800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:54290000-54293800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:54290200-54291800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:54290200-54292000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:54290200-54294000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:54290400-54291800	Weak transcription	HUVEC	blood vessel
23	chr5:54290600-54291600	Enhancers	Primary T cells fromperipheralblood	blood

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