Variant report

Variant	rs12613710
Chromosome Location	chr2:188033321-188033322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17754256	1.00[ASW][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.95[MKK][hapmap]
rs35294250	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6743526	0.83[ASN][1000 genomes]
rs6756991	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv875553	chr2:187856937-188067355	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv431857	chr2:187930023-188098798	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875555	chr2:188023107-188143677	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12613710	CALCRL	cis	cerebellum	SCAN
rs12613710	OSGEPL1	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188030800-188035000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:188031000-188034800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:188033000-188033400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:188033000-188035200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:188033200-188033600	Flanking Active TSS	GM12878-XiMat	blood
6	chr2:188033200-188033800	Enhancers	Fetal Kidney	kidney
7	chr2:188033200-188034400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:188033200-188035000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:188033200-188035000	Enhancers	Primary B cells from cord blood	blood
10	chr2:188033200-188035000	Enhancers	Primary hematopoietic stem cells	blood

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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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