Variant report

Variant	rs12041942
Chromosome Location	chr1:211674041-211674042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10863898	0.88[CHB][hapmap];0.92[YRI][hapmap]
rs11119751	0.83[CHB][hapmap];0.83[LWK][hapmap];0.96[YRI][hapmap]
rs12040334	0.83[CHB][hapmap];0.96[YRI][hapmap]
rs7512666	0.85[YRI][hapmap]
rs7527404	0.83[CHB][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];0.96[YRI][hapmap]
rs755448	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12041942	C1orf97	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211659200-211687600	Weak transcription	Spleen	Spleen
2	chr1:211673400-211674200	Enhancers	Fetal Thymus	thymus
3	chr1:211673400-211674600	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:211673800-211675000	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:211673800-211675200	Weak transcription	Thymus	Thymus
6	chr1:211674000-211675000	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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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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