Variant report

Variant	rs969965
Chromosome Location	chr4:62686190-62686191
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10000772	0.88[EUR][1000 genomes]
rs10006513	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10015258	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10017044	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10021694	0.81[ASN][1000 genomes]
rs1031341	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12509742	0.93[EUR][1000 genomes]
rs12641643	0.81[ASN][1000 genomes]
rs12651006	0.81[ASN][1000 genomes]
rs13122879	0.82[AMR][1000 genomes]
rs1376306	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1376307	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450901	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1470721	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1817052	0.94[EUR][1000 genomes]
rs1901223	0.93[EUR][1000 genomes]
rs2122640	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2122643	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2167280	0.93[EUR][1000 genomes]
rs2345043	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2345044	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2345045	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2345046	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2345047	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2345048	0.83[AMR][1000 genomes]
rs2345049	0.80[AMR][1000 genomes]
rs28735546	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28861113	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4487384	0.94[EUR][1000 genomes]
rs4493573	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4860104	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4860434	0.94[EUR][1000 genomes]
rs4860435	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4860436	0.87[ASN][1000 genomes]
rs6551659	0.96[ASN][1000 genomes]
rs6551660	0.81[ASN][1000 genomes]
rs6818785	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855424	0.94[EUR][1000 genomes]
rs7656882	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7665141	0.88[ASN][1000 genomes]
rs7695134	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461377	chr4:62368762-62883431	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv594328	chr4:62368762-62883431	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv829949	chr4:62615637-62761629	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv428760	chr4:62649399-62824542	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62681200-62693000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:62682600-62697600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:62682800-62686200	Weak transcription	Aorta	Aorta
4	chr4:62683400-62689400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:62683400-62697400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:62683600-62686400	Weak transcription	Fetal Kidney	kidney
7	chr4:62684000-62686400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:62685800-62686600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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