Variant report

Variant	rs73789048
Chromosome Location	chr6:147184036-147184037
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55717444	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58361422	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59130345	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73789047	1.00[AMR][1000 genomes]
rs73789053	0.86[AFR][1000 genomes];0.85[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	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147179000-147186000	Weak transcription	Esophagus	oesophagus
2	chr6:147179600-147184800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:147179600-147185000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:147179600-147192200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:147181200-147184400	Enhancers	Liver	Liver
6	chr6:147182000-147186000	Weak transcription	NHLF	lung
7	chr6:147182200-147197600	Weak transcription	Pancreas	Pancrea
8	chr6:147182800-147193000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:147183000-147184200	Enhancers	Brain Substantia Nigra	brain
10	chr6:147183000-147187200	Enhancers	K562	blood
11	chr6:147183800-147184400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr6:147184000-147184400	Enhancers	Primary monocytes fromperipheralblood	blood

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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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