Variant report

Variant	rs2555727
Chromosome Location	chr8:125972165-125972166
allele	C/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:8)

rs_ID	r²[population]
rs10099730	1.00[YRI][hapmap]
rs1427087	0.82[CEU][hapmap];1.00[YRI][hapmap]
rs1427093	1.00[YRI][hapmap]
rs2248055	0.89[ASW][hapmap];0.82[CEU][hapmap];1.00[YRI][hapmap]
rs2555726	1.00[YRI][hapmap]
rs2590668	0.82[CEU][hapmap]
rs2590674	1.00[YRI][hapmap]
rs4099572	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2555727	HAS2	cis	cerebellum	SCAN
rs2555727	KLHL38	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125969000-125974000	Weak transcription	Fetal Intestine Large	intestine
2	chr8:125969800-125974000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:125969800-125985000	Weak transcription	Right Atrium	heart
4	chr8:125970000-125973600	Weak transcription	K562	blood
5	chr8:125970600-125974600	Enhancers	Liver	Liver

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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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