Variant report

Variant	rs4930730
Chromosome Location	chr12:124319864-124319865
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs7964186	1.00[CHD][hapmap]
rs7965847	0.87[ASW][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.90[LWK][hapmap];0.93[MKK][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes]
rs7978454	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs9888323	0.85[CHD][hapmap]

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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4930730	HPD	cis	cerebellum	SCAN
rs4930730	BRI3BP	cis	parietal	SCAN
rs4930730	TCTN2	cis	cerebellum	SCAN
rs4930730	LOC338799	cis	cerebellum	SCAN
rs4930730	EIF2B1	cis	parietal	SCAN
rs4930730	TCTN2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124319400-124320400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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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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