Variant report

Variant	rs756345
Chromosome Location	chr4:90073214-90073215
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	chr4:90072737..90075893-chr4:90099370..90102220,3	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10033484	0.86[JPT][hapmap]
rs11737182	0.86[JPT][hapmap]
rs12498498	0.84[ASN][1000 genomes]
rs13138280	0.81[JPT][hapmap]
rs1398940	0.91[JPT][hapmap]
rs1398944	0.89[ASN][1000 genomes]
rs1458557	0.86[JPT][hapmap]
rs16996143	0.86[JPT][hapmap]
rs17015027	0.91[JPT][hapmap]
rs17015052	0.81[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs1708668	0.91[JPT][hapmap]
rs1708669	0.91[JPT][hapmap]
rs1708670	0.91[JPT][hapmap]
rs1795722	0.91[JPT][hapmap]
rs1795727	0.91[JPT][hapmap]
rs1795734	0.91[JPT][hapmap]
rs1795738	0.91[JPT][hapmap]
rs1903007	0.91[JPT][hapmap]
rs1921679	0.82[JPT][hapmap]
rs1921684	0.86[JPT][hapmap]
rs1961979	0.86[JPT][hapmap]
rs2085601	0.86[JPT][hapmap]
rs2178583	0.86[JPT][hapmap]
rs2178584	0.86[JPT][hapmap]
rs2178585	0.86[JPT][hapmap]
rs2609275	0.86[JPT][hapmap]
rs2670623	0.83[JPT][hapmap]
rs2704571	0.90[JPT][hapmap]
rs2704573	0.86[JPT][hapmap]
rs2704577	0.90[JPT][hapmap]
rs28628620	0.87[ASN][1000 genomes]
rs2869971	0.86[JPT][hapmap]
rs2869972	0.90[JPT][hapmap]
rs2904261	0.86[JPT][hapmap]
rs3927227	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4491985	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4507326	0.86[JPT][hapmap]
rs4642211	0.81[JPT][hapmap]
rs59924504	0.89[ASN][1000 genomes]
rs62306397	0.87[ASN][1000 genomes]
rs62306424	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821678	0.86[CHB][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs6844655	0.86[JPT][hapmap]
rs6852373	0.91[JPT][hapmap]
rs6853480	0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7656238	0.84[JPT][hapmap]
rs7658455	0.89[ASN][1000 genomes]
rs7672716	0.87[ASN][1000 genomes]
rs7672894	0.87[ASN][1000 genomes]
rs7684332	0.87[ASN][1000 genomes]
rs7686954	0.86[JPT][hapmap]
rs7690336	0.84[ASN][1000 genomes]
rs7692291	0.89[ASN][1000 genomes]
rs7697075	0.86[JPT][hapmap]
rs7697900	0.86[JPT][hapmap]
rs9307054	0.86[JPT][hapmap]
rs9307055	0.81[JPT][hapmap]
rs9307061	0.86[JPT][hapmap]
rs9991237	0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv470052	chr4:90055898-90075384	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv830002	chr4:90056232-90258865	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs756345	HERC3	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90070200-90079000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:90073000-90074400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr4:90073000-90075600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:90073200-90073400	Enhancers	A549	lung
5	chr4:90073200-90073600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:90073200-90075000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:90073200-90075400	Enhancers	HUES48 Cell Line	embryonic stem cell

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