Variant report

Variant	rs11984688
Chromosome Location	chr8:52647065-52647066
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10104555	0.87[EUR][1000 genomes]
rs10106132	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111727	0.87[EUR][1000 genomes]
rs11988429	0.84[AFR][1000 genomes]
rs11990522	0.85[AFR][1000 genomes]
rs11990932	1.00[CEU][hapmap]
rs11992330	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994304	0.84[AFR][1000 genomes]
rs11995501	0.84[AFR][1000 genomes]
rs16916958	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs28829739	0.81[EUR][1000 genomes]
rs4242473	0.94[EUR][1000 genomes]
rs4242477	0.94[EUR][1000 genomes]
rs4242478	0.80[EUR][1000 genomes]
rs4257997	0.94[EUR][1000 genomes]
rs4305894	0.80[EUR][1000 genomes]
rs4418330	0.80[EUR][1000 genomes]
rs4500071	0.80[EUR][1000 genomes]
rs4518654	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs4873599	0.94[EUR][1000 genomes]
rs4873600	0.80[EUR][1000 genomes]
rs4873601	0.80[EUR][1000 genomes]
rs4873605	0.80[EUR][1000 genomes]
rs55730191	0.87[EUR][1000 genomes]
rs55927765	1.00[ASN][1000 genomes]
rs56034922	0.87[EUR][1000 genomes]
rs56078883	1.00[ASN][1000 genomes]
rs56105709	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56150121	0.80[EUR][1000 genomes]
rs56263474	1.00[ASN][1000 genomes]
rs58605516	0.84[AFR][1000 genomes]
rs59153374	0.90[AFR][1000 genomes]
rs6473640	0.90[AFR][1000 genomes]
rs6473659	1.00[CEU][hapmap]
rs6997032	0.94[EUR][1000 genomes]
rs6997972	1.00[CEU][hapmap]
rs7000570	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs7000576	0.88[AFR][1000 genomes]
rs7012129	0.81[AFR][1000 genomes]
rs73574290	0.84[AFR][1000 genomes]
rs73574293	0.85[AFR][1000 genomes]
rs73576204	0.85[AFR][1000 genomes]
rs73576207	0.85[AFR][1000 genomes]
rs73576208	0.85[AFR][1000 genomes]
rs73580258	0.85[AFR][1000 genomes]
rs73580281	0.84[AFR][1000 genomes]
rs73580289	0.90[AFR][1000 genomes]
rs73580296	0.90[AFR][1000 genomes]
rs73580301	0.87[AFR][1000 genomes]
rs73583635	0.87[EUR][1000 genomes]
rs73583640	0.87[EUR][1000 genomes]
rs73588487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73592250	0.87[EUR][1000 genomes]
rs7816154	0.87[AFR][1000 genomes]
rs7820936	0.80[EUR][1000 genomes]
rs7825492	1.00[CEU][hapmap]
rs7838681	0.87[AFR][1000 genomes]
rs7845506	0.87[EUR][1000 genomes]
rs9643464	1.00[ASN][1000 genomes]
rs9643787	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv890898	chr8:52579964-52680933	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1817480	chr8:52643151-52654831	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52637400-52650400	Weak transcription	Left Ventricle	heart
2	chr8:52644000-52665400	Weak transcription	Right Ventricle	heart
3	chr8:52646600-52647800	Enhancers	Fetal Lung	lung
4	chr8:52647000-52647600	Enhancers	Fetal Kidney	kidney

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