Variant report

Variant	rs1820315
Chromosome Location	chr9:21224697-21224698
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10114358	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10116615	0.82[EUR][1000 genomes]
rs10117677	0.84[EUR][1000 genomes]
rs10125010	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs10757212	0.84[EUR][1000 genomes]
rs10757213	0.84[EUR][1000 genomes]
rs10811505	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs10811522	0.83[EUR][1000 genomes]
rs10811523	0.83[EUR][1000 genomes]
rs10964878	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs10964920	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10964929	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10964953	0.83[EUR][1000 genomes]
rs10964954	0.82[EUR][1000 genomes]
rs10964955	0.83[EUR][1000 genomes]
rs10964956	0.83[EUR][1000 genomes]
rs10964958	0.83[EUR][1000 genomes]
rs10964960	0.85[EUR][1000 genomes]
rs10964966	0.84[EUR][1000 genomes]
rs12237982	0.84[EUR][1000 genomes]
rs12552812	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12683349	0.84[EUR][1000 genomes]
rs1330311	0.83[EUR][1000 genomes]
rs1330313	0.84[EUR][1000 genomes]
rs1330319	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1330320	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1360286	0.82[EUR][1000 genomes]
rs1411437	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1467734	0.84[EUR][1000 genomes]
rs1467735	0.84[EUR][1000 genomes]
rs1467736	0.84[EUR][1000 genomes]
rs1475547	0.83[EUR][1000 genomes]
rs1475548	0.83[EUR][1000 genomes]
rs1543640	0.85[ASN][1000 genomes]
rs1543874	0.83[EUR][1000 genomes]
rs1831390	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1831391	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1854700	0.96[CHB][hapmap];1.00[JPT][hapmap]
rs2094787	0.83[EUR][1000 genomes]
rs2094788	0.83[EUR][1000 genomes]
rs3091288	0.96[CHB][hapmap];1.00[JPT][hapmap]
rs4406500	0.83[EUR][1000 genomes]
rs4634752	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4978056	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4978092	0.83[EUR][1000 genomes]
rs4978093	0.82[EUR][1000 genomes]
rs4978097	0.83[EUR][1000 genomes]
rs600118	0.82[EUR][1000 genomes]
rs616873	0.82[EUR][1000 genomes]
rs6475527	0.87[EUR][1000 genomes]
rs667069	0.83[EUR][1000 genomes]
rs67212517	0.83[EUR][1000 genomes]
rs7019617	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7019739	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7020867	0.83[EUR][1000 genomes]
rs7021699	0.82[EUR][1000 genomes]
rs7024738	0.86[ASN][1000 genomes]
rs7032044	0.82[EUR][1000 genomes]
rs7035600	0.83[EUR][1000 genomes]
rs7035669	0.84[EUR][1000 genomes]
rs7037389	0.83[JPT][hapmap]
rs7047351	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7848803	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7849623	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7849902	0.81[EUR][1000 genomes]
rs7853081	0.84[EUR][1000 genomes]
rs7857863	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7862940	0.84[EUR][1000 genomes]
rs7866359	0.95[CHB][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7868334	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7872479	0.83[EUR][1000 genomes]
rs8729	0.83[EUR][1000 genomes]
rs9298814	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1032466	chr9:21052069-21243756	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv540084	chr9:21052069-21243756	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	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
6	nsv892735	chr9:21157373-21242161	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv968599	chr9:21166047-21239960	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1022579	chr9:21178517-21228248	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1018561	chr9:21181454-21228248	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv3439842	chr9:21186801-21227493	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv613756	chr9:21187700-21227391	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1021574	chr9:21191684-21228248	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
13	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1820315	KLHL9	cis	multi-tissue	Pritchard
rs1820315	KLHL9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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