Variant report

Variant	rs2712965
Chromosome Location	chr3:110108335-110108336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:110102631..110105369-chr3:110107761..110109914,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12490772	0.81[EUR][1000 genomes]
rs12491162	0.81[EUR][1000 genomes]
rs1512672	0.81[EUR][1000 genomes]
rs1512675	0.81[EUR][1000 genomes]
rs1546538	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1606367	0.89[EUR][1000 genomes]
rs1606368	0.89[EUR][1000 genomes]
rs1606369	0.89[EUR][1000 genomes]
rs17726211	0.82[EUR][1000 genomes]
rs2175625	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2669101	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712968	0.89[EUR][1000 genomes]
rs2713003	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60473746	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62269410	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66818839	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73209514	0.81[EUR][1000 genomes]
rs73209529	0.81[EUR][1000 genomes]
rs73217877	0.83[EUR][1000 genomes]
rs73217886	0.83[EUR][1000 genomes]
rs73217900	0.81[EUR][1000 genomes]
rs953237	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953238	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877332	chr3:109575764-110186611	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv460818	chr3:110007205-110155824	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv591272	chr3:110007205-110155824	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv829669	chr3:110022724-110188397	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv460819	chr3:110080893-110194026	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv877336	chr3:110083045-110143891	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv470838	chr3:110083045-110194026	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv591273	chr3:110087264-110194026	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv877337	chr3:110091627-110186611	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv999414	chr3:110103126-110340180	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2712965	ABHD10	cis	parietal	SCAN
rs2712965	KIAA1524	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110101400-110110600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:110103800-110110000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:110105200-110110800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:110106000-110109800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:110107800-110108400	Enhancers	Dnd41	blood

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