Variant report

Variant	rs7636940
Chromosome Location	chr3:146544813-146544814
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	chr3:146543043..146545819-chr3:146575097..146577219,2	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10222373	1.00[ASN][1000 genomes]
rs10470459	1.00[ASN][1000 genomes]
rs10470460	1.00[ASN][1000 genomes]
rs10935644	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12330695	1.00[ASN][1000 genomes]
rs12695830	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1319533	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13324524	1.00[ASN][1000 genomes]
rs13324873	1.00[ASN][1000 genomes]
rs13325265	1.00[ASN][1000 genomes]
rs13353410	1.00[ASN][1000 genomes]
rs1402737	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431967	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431969	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1521579	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1521580	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1521588	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116430	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28498057	1.00[ASN][1000 genomes]
rs28539305	1.00[ASN][1000 genomes]
rs2868954	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28729741	1.00[ASN][1000 genomes]
rs55848109	1.00[ASN][1000 genomes]
rs56737593	1.00[ASN][1000 genomes]
rs58365455	1.00[ASN][1000 genomes]
rs6771456	1.00[ASN][1000 genomes]
rs6783801	1.00[ASN][1000 genomes]
rs6808571	1.00[ASN][1000 genomes]
rs6809355	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159127	1.00[ASN][1000 genomes]
rs73159146	1.00[ASN][1000 genomes]
rs73159151	1.00[ASN][1000 genomes]
rs73159171	1.00[ASN][1000 genomes]
rs7610634	1.00[ASN][1000 genomes]
rs7614167	1.00[ASN][1000 genomes]
rs7626080	1.00[ASN][1000 genomes]
rs7640043	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7642381	0.82[EUR][1000 genomes]
rs7642386	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7642952	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7650149	1.00[ASN][1000 genomes]
rs9289733	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9810942	1.00[ASN][1000 genomes]
rs9814690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9818401	1.00[ASN][1000 genomes]
rs9820879	1.00[ASN][1000 genomes]
rs9826710	1.00[ASN][1000 genomes]
rs9831349	1.00[ASN][1000 genomes]
rs9835696	1.00[ASN][1000 genomes]
rs9836951	1.00[ASN][1000 genomes]
rs9841310	1.00[ASN][1000 genomes]
rs9841704	1.00[ASN][1000 genomes]
rs9847241	1.00[ASN][1000 genomes]
rs9850124	1.00[ASN][1000 genomes]
rs9851720	1.00[ASN][1000 genomes]
rs9852256	1.00[ASN][1000 genomes]
rs9857093	1.00[ASN][1000 genomes]
rs9859125	1.00[ASN][1000 genomes]
rs9860770	1.00[ASN][1000 genomes]
rs9861056	1.00[ASN][1000 genomes]
rs9862802	1.00[ASN][1000 genomes]
rs9863350	1.00[ASN][1000 genomes]
rs9863944	1.00[ASN][1000 genomes]
rs9868411	1.00[ASN][1000 genomes]
rs9868687	1.00[ASN][1000 genomes]
rs9869328	1.00[ASN][1000 genomes]
rs9872644	1.00[ASN][1000 genomes]
rs9874910	1.00[ASN][1000 genomes]
rs9881534	1.00[ASN][1000 genomes]
rs9881735	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516386	chr3:146366513-146758405	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv591961	chr3:146394094-146725217	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1007875	chr3:146401461-146776618	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv998040	chr3:146416916-146729962	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv536760	chr3:146416916-146729962	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1001931	chr3:146419061-146745361	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1005776	chr3:146511378-146599221	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv460881	chr3:146512753-146569037	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv591962	chr3:146512753-146569037	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7636940	UBQLN4	cis	parietal	SCAN
rs7636940	HLTF	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146544400-146545000	Weak transcription	Dnd41	blood
2	chr3:146544800-146545000	Enhancers	Placenta Amnion	Placenta Amnion

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