Variant report

Variant	rs283373
Chromosome Location	chr3:115405191-115405192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1370807	0.82[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1370809	0.83[YRI][hapmap]
rs3772929	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59564285	0.83[EUR][1000 genomes];0.84[ASN][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	nsv931948	chr3:114884574-115802562	Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv997598	chr3:115238131-115643421	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv877358	chr3:115396581-115551931	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv877359	chr3:115397785-115551931	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs283373	BOC	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115378800-115412000	Weak transcription	Fetal Brain Male	brain
2	chr3:115391200-115411400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:115395600-115408600	Weak transcription	Fetal Brain Female	brain
4	chr3:115396000-115410400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr3:115396600-115410200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:115398400-115411200	Weak transcription	Brain Germinal Matrix	brain
7	chr3:115399400-115407400	Weak transcription	H9 Derived Neuron 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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