Variant report

Variant	rs1374706
Chromosome Location	chr2:205358028-205358029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10183041	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685203	0.82[ASN][1000 genomes]
rs12613305	0.82[ASN][1000 genomes]
rs34922070	0.84[ASN][1000 genomes]
rs35251633	0.88[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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1374706	MDH1B	cis	cerebellum	SCAN
rs1374706	CREB1	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205351800-205359800	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:205356200-205359600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:205356600-205359200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:205356600-205359800	Weak transcription	Brain Substantia Nigra	brain
5	chr2:205356600-205366000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:205356800-205359400	Weak transcription	NHEK	skin
7	chr2:205357000-205359200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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