Variant report

Variant	rs1330318
Chromosome Location	chr9:21255411-21255412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10114358	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10116540	0.87[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10757199	0.90[JPT][hapmap]
rs10757208	0.86[EUR][1000 genomes]
rs10811497	0.81[ASW][hapmap]
rs10811509	0.81[ASN][1000 genomes]
rs10811514	0.94[ASN][1000 genomes]
rs10811519	0.87[EUR][1000 genomes]
rs10964918	0.83[ASN][1000 genomes]
rs10964928	0.95[ASN][1000 genomes]
rs10964930	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.96[ASN][1000 genomes]
rs10964932	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs10964933	0.91[ASN][1000 genomes]
rs10964934	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs10964957	0.84[CHD][hapmap]
rs12551190	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs12553763	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.97[ASN][1000 genomes]
rs12555631	0.90[JPT][hapmap]
rs1330316	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1330317	1.00[ASN][1000 genomes]
rs1330319	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1330320	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1330322	0.81[CEU][hapmap]
rs1330323	0.88[EUR][1000 genomes]
rs1330324	0.89[EUR][1000 genomes]
rs1330325	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1411436	0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs1424854	0.82[JPT][hapmap]
rs1543640	0.90[EUR][1000 genomes]
rs1590898	0.99[ASN][1000 genomes]
rs1820313	0.84[YRI][hapmap]
rs1834247	0.90[JPT][hapmap]
rs1928854	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs1928855	0.95[ASN][1000 genomes]
rs1928856	0.94[ASN][1000 genomes]
rs2015345	0.91[JPT][hapmap];0.82[LWK][hapmap]
rs2225329	0.99[ASN][1000 genomes]
rs28437205	1.00[ASN][1000 genomes]
rs3903111	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4112794	0.96[ASN][1000 genomes]
rs4628333	0.87[ASW][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs4977682	0.86[ASW][hapmap]
rs4978068	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4978069	0.99[ASN][1000 genomes]
rs56035072	0.81[ASN][1000 genomes]
rs57122438	0.97[ASN][1000 genomes]
rs57146220	0.97[ASN][1000 genomes]
rs7024738	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7033839	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs7037147	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap]
rs7037707	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73418252	1.00[ASN][1000 genomes]
rs7858766	0.87[EUR][1000 genomes]
rs7872575	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817218	chr9:20687769-21309177	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
3	nsv892734	chr9:21108817-21323089	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1035128	chr9:21196300-21269669	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv982643	chr9:21242163-21262125	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1330318	KLHL9	Cis_1M	lymphoblastoid	RTeQTL
rs1330318	KLHL9	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21254800-21256600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr9:21255000-21256600	Enhancers	Primary hematopoietic stem cells	blood
3	chr9:21255200-21256400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr9:21255200-21256600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr9:21255200-21256600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:21255400-21256200	Enhancers	Fetal Thymus	thymus
7	chr9:21255400-21256400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr9:21255400-21256400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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