Variant report

Variant	rs3843986
Chromosome Location	chr5:118917199-118917200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11948865	1.00[EUR][1000 genomes]
rs11949545	1.00[EUR][1000 genomes]
rs11951660	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11952687	1.00[EUR][1000 genomes]
rs11955089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956487	1.00[EUR][1000 genomes]
rs11959643	1.00[EUR][1000 genomes]
rs11959779	1.00[EUR][1000 genomes]
rs12714	1.00[EUR][1000 genomes]
rs1428437	1.00[EUR][1000 genomes]
rs2560723	1.00[EUR][1000 genomes]
rs28943589	1.00[AMR][1000 genomes]
rs28943594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35164142	1.00[AMR][1000 genomes]
rs35182344	1.00[EUR][1000 genomes]
rs35764784	1.00[EUR][1000 genomes]
rs3850203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3850204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4099736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57270573	1.00[EUR][1000 genomes]
rs57592998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57990091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58527989	1.00[EUR][1000 genomes]
rs59177585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59940947	1.00[EUR][1000 genomes]
rs60069733	1.00[EUR][1000 genomes]
rs60684792	1.00[EUR][1000 genomes]
rs60871537	1.00[EUR][1000 genomes]
rs61460721	1.00[EUR][1000 genomes]
rs61645108	1.00[EUR][1000 genomes]
rs72547236	1.00[AMR][1000 genomes]
rs73236713	1.00[EUR][1000 genomes]
rs73236767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236771	1.00[EUR][1000 genomes]
rs73238798	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73240903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73246514	1.00[EUR][1000 genomes]
rs73246536	1.00[EUR][1000 genomes]
rs73249960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73249990	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250002	1.00[EUR][1000 genomes]
rs73251677	1.00[EUR][1000 genomes]
rs73256182	1.00[EUR][1000 genomes]
rs7708761	1.00[EUR][1000 genomes]
rs7711431	1.00[EUR][1000 genomes]
rs7711926	1.00[EUR][1000 genomes]
rs7723718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv882777	chr5:118870452-118981480	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118915200-118917600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:118915200-118921000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:118916000-118917600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:118916400-118917200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr5:118916400-118917200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:118916400-118917200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:118916400-118917400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:118916400-118919400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:118916600-118917200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:118916600-118917200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:118916600-118917200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:118916800-118917600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:118917000-118917400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:118917000-118917400	Enhancers	HUES6 Cell Line	embryonic stem cell

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