Variant report

Variant	rs1401543
Chromosome Location	chr3:135587811-135587812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11916990	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1519261	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17195888	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17196014	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17196097	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17249203	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878993	1.00[ASN][1000 genomes]
rs2176666	1.00[ASN][1000 genomes]
rs2895793	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34629706	1.00[ASN][1000 genomes]
rs56382648	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56818259	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57895104	1.00[ASN][1000 genomes]
rs60349283	1.00[ASN][1000 genomes]
rs60545022	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61789012	1.00[ASN][1000 genomes]
rs61789017	1.00[ASN][1000 genomes]
rs61789025	1.00[ASN][1000 genomes]
rs61789026	1.00[ASN][1000 genomes]
rs61790390	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790396	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790400	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790401	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790403	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790404	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790457	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790458	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790459	1.00[ASN][1000 genomes]
rs61791710	1.00[ASN][1000 genomes]
rs6414336	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6762218	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765327	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6769033	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6769893	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6786217	1.00[ASN][1000 genomes]
rs6802942	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72977660	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73863014	1.00[ASN][1000 genomes]
rs73863035	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7618257	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7635010	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs908827	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs980210	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9865234	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460860	chr3:135107678-135769006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv591829	chr3:135107678-135769006	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv829732	chr3:135561706-135756840	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Anticoagulant levels	22216198	GWAS catalog

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135584600-135589800	Weak transcription	NHLF	lung
2	chr3:135586800-135588000	Enhancers	Fetal Muscle Leg	muscle
3	chr3:135586800-135590800	Enhancers	HSMMtube	muscle
4	chr3:135587600-135588000	Enhancers	Psoas Muscle	Psoas
5	chr3:135587600-135588000	Genic enhancers	HSMM	muscle
6	chr3:135587600-135588600	Enhancers	Skeletal Muscle Female	skeletal muscle

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