Variant report

Variant	rs17705966
Chromosome Location	chr2:188165166-188165167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10207431	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13417165	0.92[EUR][1000 genomes]
rs17576323	1.00[AFR][1000 genomes]
rs62172372	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62172421	0.86[AFR][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	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	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
3	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
4	nsv533935	chr2:188089148-188284766	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17705966	CALCRL	cis	cerebellum	SCAN
rs17705966	CALCRL	cis	Artery Tibial	GTEx
rs17705966	ANKAR	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188162400-188166800	Enhancers	HUVEC	blood vessel
2	chr2:188163000-188167000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:188163200-188167000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:188163200-188167000	Weak transcription	HSMM	muscle
5	chr2:188164400-188165200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:188164600-188166600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:188164600-188167000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:188164800-188166800	Weak transcription	Adipose Nuclei	Adipose
9	chr2:188164800-188167000	Weak transcription	NHDF-Ad	bronchial
10	chr2:188165000-188165200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:188165000-188166000	Enhancers	Fetal Lung	lung
12	chr2:188165000-188166800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:188165000-188167200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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