Variant report

Variant	rs4692540
Chromosome Location	chr4:26530798-26530799
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10939119	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13135516	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1387542	0.84[EUR][1000 genomes]
rs1565296	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1565297	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1976170	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2200840	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4303969	0.94[ASN][1000 genomes]
rs4692542	0.83[EUR][1000 genomes]
rs6849278	1.00[ASN][1000 genomes]
rs73247935	0.84[EUR][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	esv2762417	chr4:26491768-26576800	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4692540	SEL1L3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26523200-26530800	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:26528800-26532200	Enhancers	HSMMtube	muscle
3	chr4:26530000-26531800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:26530400-26530800	Active TSS	Brain Substantia Nigra	brain
5	chr4:26530600-26530800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
6	chr4:26530600-26531000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:26530600-26531000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:26530600-26531000	Active TSS	Brain Anterior Caudate	brain
9	chr4:26530600-26531200	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr4:26530600-26531400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:26530600-26531600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:26530600-26531600	Enhancers	HSMM	muscle
13	chr4:26530600-26532000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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