Variant report

Variant	rs12799928
Chromosome Location	chr11:4931285-4931286
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4930618-4934702..11:4934702-4937867	H1-hESC	embryonic stem cell:	embryo
2	11:4930618-4934702..11:5714465-5718134	H1-hESC	embryonic stem cell:	embryo
3	11:4789513-4794705..11:4930618-4934702	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000132274	Chromatin interaction
ENSG00000176893	Chromatin interaction
ENSG00000188069	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10500625	1.00[CEU][hapmap]
rs10500626	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10500631	1.00[CEU][hapmap]
rs11034067	0.83[CEU][hapmap]
rs11034071	0.83[CEU][hapmap]
rs11034089	0.83[CEU][hapmap]
rs11034090	0.83[CEU][hapmap]
rs11034094	0.83[CEU][hapmap]
rs12785274	0.91[CEU][hapmap]
rs12786973	0.91[CEU][hapmap]
rs12787796	0.83[CEU][hapmap]
rs12788447	1.00[CEU][hapmap]
rs12793425	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12794894	1.00[CEU][hapmap]
rs12795212	0.82[CEU][hapmap]
rs12796015	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12796618	0.83[CEU][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12801368	0.91[CEU][hapmap]
rs12802922	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12804676	1.00[CEU][hapmap]
rs12806014	1.00[CEU][hapmap]
rs12806727	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1433899	1.00[CEU][hapmap]
rs1541946	0.83[CEU][hapmap]
rs17228176	0.83[CEU][hapmap]
rs17228183	0.83[CEU][hapmap]
rs17247598	0.85[CEU][hapmap]
rs17249369	0.91[CEU][hapmap]
rs17249695	0.83[CEU][hapmap]
rs17250199	0.91[CEU][hapmap]
rs17251220	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17251261	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17327845	0.91[CEU][hapmap]
rs17327907	0.91[CEU][hapmap]
rs17328143	0.83[CEU][hapmap]
rs17328337	0.83[CEU][hapmap]
rs17328565	0.91[CEU][hapmap]
rs17329242	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17337601	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17337649	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1865282	0.83[CEU][hapmap]
rs2412395	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs34301246	0.89[EUR][1000 genomes]
rs34583466	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34742470	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35408660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35720831	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35918613	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4910686	0.91[CEU][hapmap]
rs4910687	0.83[CEU][hapmap]
rs4910688	0.82[CEU][hapmap]
rs4910691	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7925039	0.81[EUR][1000 genomes]
rs7948040	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	esv2758254	chr11:4907893-5135331	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	esv2759799	chr11:4907893-5135331	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv896917	chr11:4917089-4935470	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4930800-4931400	Enhancers	HUES48 Cell Line	embryonic stem cell

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