Variant report

Variant	rs1382250
Chromosome Location	chr8:4465300-4465301
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1382251	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.84[LWK][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap]
rs1564179	0.86[CHB][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.91[ASN][1000 genomes]
rs2061750	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap]
rs2466731	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2616969	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs2616973	0.81[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap]
rs2616976	0.84[CEU][hapmap]
rs2616978	0.85[JPT][hapmap]
rs2616979	0.88[JPT][hapmap]
rs2617104	1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap]
rs2617105	0.85[ASN][1000 genomes]
rs2617109	0.88[CEU][hapmap];0.80[JPT][hapmap]
rs2725039	0.81[ASW][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap]
rs2725041	0.85[CEU][hapmap];0.84[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2725043	0.81[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.84[LWK][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.87[YRI][hapmap]
rs2725044	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs2725046	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530531	chr8:3942575-4605088	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv889939	chr8:4033186-4718648	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv889960	chr8:4395685-4489552	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv465384	chr8:4413282-4512135	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv609857	chr8:4413282-4512135	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv428513	chr8:4435878-4613986	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1844135	chr8:4442963-4602387	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv528058	chr8:4445174-4466042	Enhancers	n/a	n/a	inside rSNPs	diseases
9	nsv437589	chr8:4449135-4466042	Enhancers	n/a	n/a	inside rSNPs	diseases
10	nsv889962	chr8:4453036-4480667	Enhancers ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
11	esv2422279	chr8:4458646-4641684	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv470173	chr8:4464167-4477529	Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1382250	SGK223	cis	cerebellum	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
chromosomal regions: chr1:12345-34567

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