Variant report

Variant	rs2726553
Chromosome Location	chr8:59781882-59781883
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2594959	0.81[GIH][hapmap];0.83[TSI][hapmap]
rs2594960	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594964	0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs826724	0.82[JPT][hapmap]
rs826733	0.82[JPT][hapmap];0.82[TSI][hapmap];0.83[EUR][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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2726553	SDCBP	cis	cerebellum	SCAN
rs2726553	CHCHD7	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59764200-59806400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:59771400-59811000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:59771600-59794000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:59772600-59794400	Weak transcription	Small Intestine	intestine
5	chr8:59773400-59808200	Weak transcription	Thymus	Thymus
6	chr8:59773800-59785000	Weak transcription	Dnd41	blood
7	chr8:59774600-59789600	Weak transcription	Primary T cells from cord blood	blood
8	chr8:59777800-59788200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:59777800-59795000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:59778200-59783200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:59778200-59789000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:59779400-59788800	Weak transcription	HUVEC	blood vessel
13	chr8:59780400-59785200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:59780400-59785800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:59780400-59790000	Weak transcription	HSMM	muscle
16	chr8:59780600-59785400	Weak transcription	Osteobl	bone
17	chr8:59780600-59791600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:59780800-59788800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:59781400-59789000	Weak transcription	Fetal Thymus	thymus
20	chr8:59781800-59782200	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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