Variant report

Variant	rs2027320
Chromosome Location	chr1:215379943-215379944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10746455	0.84[CHB][hapmap]
rs10779642	0.84[CHB][hapmap]
rs10779643	0.84[CHB][hapmap]
rs10779645	0.83[CHB][hapmap]
rs10779646	0.84[CHB][hapmap]
rs10779649	0.84[CHB][hapmap];0.85[CHD][hapmap]
rs10779650	0.84[CHB][hapmap]
rs10779651	0.84[CHB][hapmap];0.85[CHD][hapmap]
rs11120508	0.80[CHD][hapmap]
rs11120511	0.84[CHB][hapmap]
rs11120513	0.80[CHD][hapmap]
rs11120519	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];0.83[TSI][hapmap]
rs1112101	0.84[CHB][hapmap];0.84[CHD][hapmap]
rs11583745	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs12031308	0.84[CHB][hapmap]
rs12038695	0.81[TSI][hapmap]
rs12120091	0.81[CHB][hapmap]
rs12129983	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135076	0.84[CHB][hapmap]
rs12141874	0.84[CHB][hapmap]
rs12410041	0.84[CHB][hapmap]
rs12567520	0.84[CHB][hapmap];0.85[CHD][hapmap]
rs12740245	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12753507	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416647	0.84[CHB][hapmap]
rs1538547	0.80[CEU][hapmap];0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs1556905	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs1556907	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2363554	0.82[CHB][hapmap]
rs2363556	0.84[CHB][hapmap]
rs2363557	0.84[CHB][hapmap];0.82[CHD][hapmap]
rs2363564	0.80[CHD][hapmap]
rs2363565	0.80[CHD][hapmap]
rs2363566	0.84[CHB][hapmap];0.85[CHD][hapmap]
rs2363567	0.84[CHB][hapmap];0.85[CHD][hapmap]
rs4233309	0.90[CHB][hapmap];0.95[CHD][hapmap];0.83[TSI][hapmap];0.87[ASN][1000 genomes]
rs4300189	0.84[CHB][hapmap]
rs4303048	0.84[CHB][hapmap];0.85[CHD][hapmap]
rs4655277	0.84[CHB][hapmap]
rs4655393	0.84[CHB][hapmap]
rs4655394	0.84[CHB][hapmap];0.83[CHD][hapmap]
rs4655395	0.83[CHB][hapmap]
rs6657313	0.84[CHB][hapmap]
rs6662353	0.84[CHB][hapmap];0.82[CHD][hapmap]
rs6672978	0.80[CHD][hapmap]
rs6673739	0.84[CHB][hapmap]
rs6675926	0.84[CHB][hapmap]
rs6684084	0.84[CHB][hapmap];0.85[CHD][hapmap]
rs6696333	0.84[CHB][hapmap]
rs7528475	0.96[CEU][hapmap];0.81[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7547572	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873169	chr1:215264486-215453286	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
2	nsv873170	chr1:215367248-215440975	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	esv2760086	chr1:215370570-215381265	Enhancers Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3367155	chr1:215379532-215379944	Strong transcription Weak transcription	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2027320	C1orf74	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215374800-215380000	Weak transcription	Osteobl	bone
2	chr1:215375000-215387200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:215378600-215383600	Weak transcription	NHDF-Ad	bronchial
4	chr1:215379600-215380400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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