Variant report

Variant	rs6816508
Chromosome Location	chr4:110957343-110957344
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1557803	0.83[CEU][hapmap]
rs4141123	0.83[CEU][hapmap]
rs4698805	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56114208	0.94[EUR][1000 genomes]
rs56357075	0.80[EUR][1000 genomes]
rs6533489	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6837303	0.83[CEU][hapmap]
rs6854426	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6854522	0.90[AMR][1000 genomes];0.98[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	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers 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	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6816508	RRH	cis	cerebellum	SCAN
rs6816508	CYP2U1	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110953200-110958000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr4:110953400-110958000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:110955600-110958000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:110956400-110957600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:110956600-110962800	Weak transcription	Fetal Thymus	thymus

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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