Variant report

Variant	rs34682508
Chromosome Location	chr7:126529931-126529932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1003038	1.00[CHB][hapmap]
rs10232276	0.94[GIH][hapmap];0.83[TSI][hapmap]
rs10954140	1.00[CHB][hapmap]
rs11563286	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11563410	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11563808	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11762807	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11767521	1.00[CHB][hapmap]
rs13224055	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13224108	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17685327	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17862257	1.00[CHB][hapmap]
rs17866902	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2188189	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2402846	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34690384	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35048719	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35953635	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4642560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs61755388	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71576302	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv608376	chr7:126457779-126571077	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2758132	chr7:126494789-126677843	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759562	chr7:126494789-126677843	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv427805	chr7:126494789-126677843	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1849599	chr7:126507755-126557892	Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv8211	chr7:126513183-126533173	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
10	esv1849801	chr7:126513882-126530828	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
11	esv10276	chr7:126514673-126533162	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
12	esv1846203	chr7:126514725-126531028	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
13	esv1832206	chr7:126514725-126533360	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
14	esv1812850	chr7:126514725-126536800	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
15	esv1800137	chr7:126514925-126530828	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
16	esv1815126	chr7:126514925-126530828	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
17	esv1826739	chr7:126514925-126530828	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
18	esv1794204	chr7:126519897-126530828	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
19	esv1812181	chr7:126519897-126530828	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
20	nsv981575	chr7:126520557-126563439	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv1843775	chr7:126527812-126531028	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34682508	POT1	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
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