Variant report

Variant	rs12987931
Chromosome Location	chr2:172900948-172900949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1008151	0.92[CHB][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap]
rs12989560	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13015360	0.81[EUR][1000 genomes]
rs13020884	0.92[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1965160	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34054371	0.80[EUR][1000 genomes]
rs4581870	0.83[CHB][hapmap]
rs62183819	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6718013	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs6730085	0.83[CHD][hapmap]
rs6733794	0.80[ASN][1000 genomes]
rs6737308	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs7584187	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs7586556	0.91[ASN][1000 genomes]

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	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv1798626	chr2:172900948-172909852	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12987931	AC068039.4	cis	Muscle Skeletal	GTEx
rs12987931	AC068039.4	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172887400-172902800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:172893600-172902000	Weak transcription	K562	blood
3	chr2:172897000-172902600	Weak transcription	Spleen	Spleen
4	chr2:172897800-172902600	Weak transcription	Psoas Muscle	Psoas

Quick Search:

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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