Variant report

Variant	rs2501866
Chromosome Location	chr1:161229684-161229685
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12036229	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2501866	BCAN	cis	cerebellum	SCAN
rs2501866	KCNJ10	cis	parietal	SCAN
rs2501866	PVRL4	cis	cerebellum	SCAN
rs2501866	ARHGEF2	cis	parietal	SCAN
rs2501866	DEDD	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161228600-161230200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
2	chr1:161229200-161229800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
3	chr1:161229200-161229800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:161229200-161230200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:161229200-161230800	Weak transcription	Liver	Liver
6	chr1:161229200-161231200	Weak transcription	Lung	lung
7	chr1:161229400-161234800	Weak transcription	Ovary	ovary
8	chr1:161229600-161229800	Bivalent Enhancer	Colon Smooth Muscle	Colon
9	chr1:161229600-161229800	Enhancers	Rectal Smooth Muscle	rectum
10	chr1:161229600-161230400	Weak transcription	Esophagus	oesophagus

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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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