Variant report

Variant	rs1418591
Chromosome Location	chr6:77956816-77956817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10943431	0.89[AFR][1000 genomes]
rs12528095	0.82[EUR][1000 genomes]
rs13190810	0.90[AFR][1000 genomes]
rs13200081	0.84[EUR][1000 genomes]
rs13206669	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13209372	0.82[EUR][1000 genomes]
rs13210782	0.82[EUR][1000 genomes]
rs13212085	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13219567	0.84[EUR][1000 genomes]
rs13219813	0.84[EUR][1000 genomes]
rs13220732	0.82[AFR][1000 genomes]
rs13220843	0.84[AFR][1000 genomes]
rs1418590	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17203897	0.85[EUR][1000 genomes]
rs2000223	0.92[AFR][1000 genomes]
rs2153888	0.88[AFR][1000 genomes]
rs28860022	0.85[AFR][1000 genomes]
rs35034845	0.81[ASN][1000 genomes]
rs4329077	0.88[AFR][1000 genomes]
rs4469255	0.88[AFR][1000 genomes]
rs4551143	0.86[AFR][1000 genomes]
rs6914286	0.88[AFR][1000 genomes]
rs6934611	0.88[AFR][1000 genomes]
rs9294068	0.88[AFR][1000 genomes]
rs9294069	0.88[AFR][1000 genomes]
rs9443371	0.92[AFR][1000 genomes]
rs9443372	0.92[AFR][1000 genomes]
rs9443373	0.82[EUR][1000 genomes]
rs9443375	0.86[AFR][1000 genomes]
rs9443377	0.82[AFR][1000 genomes]
rs9448013	0.90[AFR][1000 genomes]
rs9448014	0.92[AFR][1000 genomes]
rs9448017	0.87[AFR][1000 genomes]
rs9448018	0.91[AFR][1000 genomes]
rs9448020	0.88[AFR][1000 genomes]
rs9448027	0.88[ASN][1000 genomes]
rs9448032	0.89[AFR][1000 genomes]
rs9448035	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9448042	0.87[AFR][1000 genomes]
rs9448043	0.87[AFR][1000 genomes]
rs9448044	0.85[AFR][1000 genomes]
rs9448045	0.88[AFR][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	nsv1017082	chr6:77585310-78258237	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3417770	chr6:77670473-77963253	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3402238	chr6:77670497-77963278	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv534282	chr6:77764575-78351994	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1034979	chr6:77781244-78426249	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv538324	chr6:77781244-78426249	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2753543	chr6:77791848-78059351	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1015307	chr6:77902559-78352291	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1418591	TTK	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77933200-77957000	Weak transcription	Aorta	Aorta
2	chr6:77952800-77961400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:77954800-77960200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:77955600-77958600	Weak transcription	HUVEC	blood vessel

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