Variant report

Variant	rs57879671
Chromosome Location	chr5:118284685-118284686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118279929..118282608-chr5:118283438..118285433,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs17144674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17144719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17144749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17144777	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17144807	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17144815	1.00[EUR][1000 genomes]
rs56253801	1.00[EUR][1000 genomes]
rs57269254	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57626866	1.00[EUR][1000 genomes]
rs57935306	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58272882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58306431	1.00[EUR][1000 genomes]
rs58511548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58532063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58886471	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58907676	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59816467	1.00[EUR][1000 genomes]
rs59960294	1.00[EUR][1000 genomes]
rs59983556	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59989728	1.00[EUR][1000 genomes]
rs60221161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60372583	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61128026	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61196104	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236955	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236956	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236981	1.00[EUR][1000 genomes]
rs73239013	1.00[EUR][1000 genomes]
rs73239017	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73239018	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73239038	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73239043	1.00[EUR][1000 genomes]
rs73239050	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73239054	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73239061	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73239070	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73239073	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73253504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs865396	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1017548	chr5:118276479-118358394	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118225400-118300400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:118233800-118289200	Weak transcription	Psoas Muscle	Psoas
3	chr5:118244000-118287400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:118250400-118289400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:118257400-118285600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:118259600-118286800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:118259600-118305000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:118260600-118289400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:118263000-118306000	Weak transcription	Primary T cells from cord blood	blood
10	chr5:118263400-118304000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:118268400-118286800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:118269600-118286800	Weak transcription	Adipose Nuclei	Adipose
13	chr5:118270400-118291800	Weak transcription	Fetal Intestine Large	intestine
14	chr5:118271600-118288400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:118271800-118286600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:118272200-118286000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:118273600-118295400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:118274000-118288000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:118278600-118286000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:118282200-118304200	Weak transcription	Right Atrium	heart
21	chr5:118283400-118285000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:118283400-118286200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:118284600-118285200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:118284600-118285600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
25	chr5:118284600-118288800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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