Variant report

Variant	rs1381674
Chromosome Location	chr6:77482314-77482315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10806074	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10943378	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10943379	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12663905	0.83[AMR][1000 genomes]
rs13197678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457946	0.83[ASN][1000 genomes]
rs1457953	0.83[AMR][1000 genomes]
rs1457954	0.83[AMR][1000 genomes]
rs1824251	0.83[ASN][1000 genomes]
rs35039603	0.97[EUR][1000 genomes]
rs35534805	0.97[EUR][1000 genomes]
rs9343492	0.83[AFR][1000 genomes]
rs9343493	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9350674	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9352385	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9352387	0.97[EUR][1000 genomes]
rs9359221	0.83[AFR][1000 genomes]
rs9361128	0.83[AMR][1000 genomes]
rs9361131	0.97[EUR][1000 genomes]
rs9361132	0.97[EUR][1000 genomes]
rs9361133	0.97[EUR][1000 genomes]
rs9361134	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9361135	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9361137	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019520	chr6:77355212-77875164	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538321	chr6:77355212-77875164	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv886217	chr6:77415155-77490717	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv886218	chr6:77415155-77500526	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv886220	chr6:77415155-77505717	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv886219	chr6:77415155-77515516	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3415838	chr6:77452282-77485905	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3448552	chr6:77461282-77485905	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1381674	SLC17A5	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77470600-77484600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:77479200-77483400	Weak transcription	Spleen	Spleen
3	chr6:77479800-77484200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:77480600-77483000	Enhancers	Placenta	Placenta
5	chr6:77480800-77483200	Enhancers	HMEC	breast
6	chr6:77481000-77483600	Weak transcription	Ovary	ovary
7	chr6:77481000-77486800	Weak transcription	Gastric	stomach
8	chr6:77481400-77482400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:77481400-77484000	Weak transcription	Pancreas	Pancrea
10	chr6:77481400-77484400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:77481800-77482800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:77481800-77484200	Weak transcription	Left Ventricle	heart
13	chr6:77482000-77484200	Weak transcription	Right Ventricle	heart
14	chr6:77482000-77488200	Weak transcription	Stomach Mucosa	stomach

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