Variant report

Variant	rs352330
Chromosome Location	chr1:176240513-176240514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10458350	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10798446	0.86[JPT][hapmap]
rs10798448	1.00[ASN][1000 genomes]
rs10913135	0.85[JPT][hapmap]
rs10913137	0.86[JPT][hapmap]
rs10913143	0.86[JPT][hapmap]
rs10913144	0.86[JPT][hapmap]
rs10913147	0.86[JPT][hapmap]
rs11582888	1.00[ASN][1000 genomes]
rs12049077	0.86[JPT][hapmap]
rs12117920	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12137300	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1354286	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1503116	0.85[EUR][1000 genomes]
rs1503124	0.82[EUR][1000 genomes]
rs1553770	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17354120	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs184764	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs1858181	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1912243	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs191606	0.86[JPT][hapmap]
rs2175177	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs2221333	0.82[EUR][1000 genomes]
rs2455724	0.81[EUR][1000 genomes]
rs2455725	0.96[EUR][1000 genomes]
rs2455726	0.93[EUR][1000 genomes]
rs2455727	0.90[ASN][1000 genomes]
rs2455729	0.90[ASN][1000 genomes]
rs2455731	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2455748	0.82[EUR][1000 genomes]
rs2455750	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2455751	0.94[EUR][1000 genomes]
rs2455756	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2504472	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2504473	1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs2504479	0.96[EUR][1000 genomes]
rs2504480	0.96[EUR][1000 genomes]
rs2504492	0.82[EUR][1000 genomes]
rs2504493	0.96[CEU][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes]
rs2504494	0.82[EUR][1000 genomes]
rs2504499	0.82[EUR][1000 genomes]
rs2504502	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2504503	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2504512	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2504514	0.85[ASN][1000 genomes]
rs2861675	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3123622	0.82[EUR][1000 genomes]
rs352311	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs352312	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs352314	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352334	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3962371	0.86[JPT][hapmap]
rs4442332	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4642850	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4650941	0.97[EUR][1000 genomes]
rs4650943	0.82[EUR][1000 genomes]
rs4652156	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652173	0.83[EUR][1000 genomes]
rs6678628	0.86[JPT][hapmap]
rs6678812	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs679728	0.86[JPT][hapmap]
rs704834	0.86[JPT][hapmap]
rs7517503	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs7535769	0.86[JPT][hapmap]
rs7538600	0.80[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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv525586	chr1:176224746-176277052	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008833	chr1:176232985-176276375	Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv548247	chr1:176233932-176277052	Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs352330	DARS2	cis	parietal	SCAN
rs352330	VAMP4	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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