Variant report

Variant	rs2167253
Chromosome Location	chr8:111169087-111169088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10955533	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774200	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11785358	0.91[EUR][1000 genomes]
rs12680760	0.84[EUR][1000 genomes]
rs13266032	0.91[EUR][1000 genomes]
rs1597521	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16880386	0.87[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs1868749	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1982401	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs921382	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019284	chr8:110866196-111221890	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2752840	chr8:111047878-111173892	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv891283	chr8:111091089-111221549	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv891284	chr8:111091089-111244015	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv891285	chr8:111116148-111182246	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv1026680	chr8:111131741-111413284	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv465762	chr8:111138684-111181385	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv611881	chr8:111138684-111181385	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2167253	RSPO2	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111167200-111172800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:111168200-111172600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:111168200-111173200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:111168400-111170600	Enhancers	HMEC	breast
5	chr8:111168600-111169200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:111168600-111169800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:111168800-111169800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:111168800-111169800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:111169000-111169800	Enhancers	NHEK	skin

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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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