Variant report

Variant	rs482524
Chromosome Location	chr17:67339415-67339416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs333917	0.80[MEX][hapmap]
rs333920	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs473487	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs515379	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs517988	0.80[AMR][1000 genomes]
rs518132	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs519437	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs558076	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs558102	0.84[ASW][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs565134	0.84[ASW][hapmap];0.80[CHB][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs6501320	0.81[ASN][1000 genomes]
rs817099	0.82[EUR][1000 genomes]
rs817129	0.82[AMR][1000 genomes]
rs817130	0.82[AMR][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	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs482524	CCDC47	cis	parietal	SCAN
rs482524	TEX2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67328400-67341200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr17:67338600-67339800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr17:67338600-67340000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr17:67338600-67341400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr17:67338800-67339800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr17:67339000-67339600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr17:67339200-67339800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr17:67339400-67339600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr17:67339400-67342400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr17:67339400-67355200	Weak transcription	iPS-15b Cell Line	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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