Variant report

Variant	rs10057434
Chromosome Location	chr5:147300462-147300463
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:147300204-147300572	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr5:147300213-147300573	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
EEF1GP2	TF binding region

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10036463	1.00[EUR][1000 genomes]
rs10037068	1.00[EUR][1000 genomes]
rs10037369	1.00[EUR][1000 genomes]
rs10037673	1.00[EUR][1000 genomes]
rs10038968	1.00[EUR][1000 genomes]
rs10041966	1.00[EUR][1000 genomes]
rs10042754	1.00[EUR][1000 genomes]
rs10044155	1.00[EUR][1000 genomes]
rs10052920	1.00[EUR][1000 genomes]
rs10054271	1.00[EUR][1000 genomes]
rs10055303	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10063124	1.00[EUR][1000 genomes]
rs10063154	1.00[EUR][1000 genomes]
rs10064440	1.00[EUR][1000 genomes]
rs10065895	1.00[EUR][1000 genomes]
rs10067543	1.00[EUR][1000 genomes]
rs10067929	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10069269	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10069389	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10070673	1.00[EUR][1000 genomes]
rs10072814	1.00[EUR][1000 genomes]
rs10074421	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10075087	1.00[EUR][1000 genomes]
rs10075879	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10076722	1.00[EUR][1000 genomes]
rs10076759	1.00[EUR][1000 genomes]
rs10077349	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10078401	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10079585	1.00[EUR][1000 genomes]
rs10079907	1.00[EUR][1000 genomes]
rs10477356	1.00[EUR][1000 genomes]
rs10477361	1.00[EUR][1000 genomes]
rs10477362	1.00[EUR][1000 genomes]
rs10515598	1.00[EUR][1000 genomes]
rs10515604	1.00[EUR][1000 genomes]
rs11952390	1.00[EUR][1000 genomes]
rs11956316	1.00[EUR][1000 genomes]
rs11960859	1.00[EUR][1000 genomes]
rs13357089	1.00[EUR][1000 genomes]
rs13436290	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13436617	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13436756	1.00[EUR][1000 genomes]
rs13436799	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13436800	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1422984	1.00[EUR][1000 genomes]
rs17096677	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17107495	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17107570	1.00[EUR][1000 genomes]
rs17107730	1.00[EUR][1000 genomes]
rs17107741	1.00[EUR][1000 genomes]
rs28433470	1.00[EUR][1000 genomes]
rs28449960	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28545137	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28573919	1.00[EUR][1000 genomes]
rs28631785	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28732977	1.00[EUR][1000 genomes]
rs28753859	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4502809	1.00[EUR][1000 genomes]
rs4529179	1.00[EUR][1000 genomes]
rs4994723	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56121007	1.00[EUR][1000 genomes]
rs57186409	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57804951	1.00[EUR][1000 genomes]
rs58069263	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58257443	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60076377	1.00[EUR][1000 genomes]
rs60206159	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60937504	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61331507	1.00[EUR][1000 genomes]
rs73265206	1.00[EUR][1000 genomes]
rs73265249	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265266	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265280	1.00[EUR][1000 genomes]
rs73265300	1.00[EUR][1000 genomes]
rs73265302	1.00[EUR][1000 genomes]
rs73271118	1.00[EUR][1000 genomes]
rs73794605	1.00[EUR][1000 genomes]
rs73797307	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73797311	1.00[EUR][1000 genomes]
rs7700644	1.00[EUR][1000 genomes]
rs9325051	1.00[EUR][1000 genomes]
rs9325053	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9325054	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9325055	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9325056	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9325059	1.00[EUR][1000 genomes]
rs9325060	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv525042	chr5:147298497-147302214	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
7	nsv528013	chr5:147298497-147302941	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147298800-147300600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:147300200-147301600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:147300200-147302200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:147300400-147301200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:147300400-147301400	Enhancers	Primary hematopoietic stem cells	blood
6	chr5:147300400-147301600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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