Variant report

Variant	rs1494450
Chromosome Location	chr7:146293097-146293098
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10234219	0.81[JPT][hapmap]
rs10258848	0.90[JPT][hapmap]
rs10277654	0.90[JPT][hapmap]
rs10487927	0.92[CEU][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.81[TSI][hapmap]
rs10952646	0.81[CEU][hapmap]
rs10952648	0.92[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap]
rs1155384	0.81[JPT][hapmap]
rs12535870	0.81[CEU][hapmap]
rs13239405	0.90[JPT][hapmap]
rs13247654	0.92[CEU][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap]
rs1494455	0.89[JPT][hapmap]
rs17517293	0.92[CEU][hapmap]
rs186980	0.90[ASN][1000 genomes]
rs347180	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs347193	0.93[YRI][hapmap]
rs347194	0.91[YRI][hapmap]
rs347196	0.89[YRI][hapmap]
rs347198	1.00[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs347201	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs347202	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs347204	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs347205	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs347206	1.00[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs347208	0.89[YRI][hapmap]
rs347209	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs347211	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs347212	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs347213	0.85[YRI][hapmap]
rs347215	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs347216	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs347217	1.00[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs347220	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs347222	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs347223	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs347225	0.88[ASN][1000 genomes]
rs347226	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap]
rs347228	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap]
rs369723	0.89[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.84[MEX][hapmap];0.94[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap]
rs445561	0.81[JPT][hapmap]
rs4726808	0.92[CEU][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs6957488	0.81[JPT][hapmap]
rs714584	0.90[JPT][hapmap]
rs724216	0.81[JPT][hapmap]
rs7789802	0.90[JPT][hapmap]
rs9691874	0.81[JPT][hapmap]
rs9886307	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017138	chr7:146102286-146318562	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1028798	chr7:146138480-146318562	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv889391	chr7:146168418-146389259	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1032959	chr7:146193191-146351005	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1021967	chr7:146199590-146413808	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1015996	chr7:146202073-146419347	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv934014	chr7:146212698-146400508	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1022547	chr7:146226298-146624409	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv996300	chr7:146236230-146663300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1025948	chr7:146252115-146393151	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv948895	chr7:146260214-146348562	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv2761376	chr7:146287876-146334647	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1018605	chr7:146287876-146448400	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv889392	chr7:146292088-146446767	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1494450	LUC7L3	trans	parietal	SCAN
rs1494450	ZNF767	cis	parietal	SCAN
rs1494450	TPK1	cis	cerebellum	SCAN

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

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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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