Variant report

Variant	rs2358748
Chromosome Location	chr3:34887681-34887682
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1522977	0.80[ASN][1000 genomes]
rs6781695	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs940048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv834654	chr3:34747802-34916657	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv834655	chr3:34752929-34898824	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3415700	chr3:34806371-34914306	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv432407	chr3:34869616-34898125	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2358748	VILL	cis	cerebellum	SCAN
rs2358748	C3orf35	cis	parietal	SCAN
rs2358748	MYD88	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34883800-34887800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr3:34885600-34897400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:34886000-34888400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:34886000-34897000	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:34886800-34889200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:34887600-34887800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:34887600-34888400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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