Variant report

Variant	rs4375237
Chromosome Location	chr1:215853900-215853901
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10864183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11120598	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11120605	0.88[CEU][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.97[TSI][hapmap]
rs11120606	0.88[CEU][hapmap];0.84[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap]
rs11578710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12140451	0.88[CEU][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs12408717	0.88[CEU][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs1342765	0.88[CEU][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs2364859	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs2820675	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2820691	0.84[JPT][hapmap]
rs2820692	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap]
rs2820693	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap]
rs2820694	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap]
rs2820696	0.90[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap]
rs4372227	0.84[JPT][hapmap]
rs4655419	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs7546433	0.81[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap]

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	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv873171	chr1:215825167-215925167	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4375237	C1orf97	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215851000-215855400	Weak transcription	Liver	Liver
2	chr1:215853200-215854400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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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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