Variant report

Variant	rs11927371
Chromosome Location	chr3:47394702-47394703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47393587..47395849-chr3:48200453..48202910,2	K562	blood:
2	chr3:47386411..47388649-chr3:47392822..47394916,2	K562	blood:
3	chr3:47391054..47393268-chr3:47394220..47396168,2	K562	blood:

Variant related genes	Relation type
ENSG00000235627	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1038394	0.82[EUR][1000 genomes]
rs10865946	0.84[EUR][1000 genomes]
rs11130127	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11130128	0.83[AMR][1000 genomes]
rs11130129	0.81[AMR][1000 genomes]
rs11705957	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11711824	0.83[EUR][1000 genomes]
rs11712445	0.85[EUR][1000 genomes]
rs11719877	0.85[EUR][1000 genomes]
rs11925823	0.84[EUR][1000 genomes]
rs12486969	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12497225	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12636851	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13064843	0.85[EUR][1000 genomes]
rs13075233	0.85[EUR][1000 genomes]
rs13079098	0.83[EUR][1000 genomes]
rs1531875	0.84[EUR][1000 genomes]
rs17410853	0.83[AFR][1000 genomes]
rs17411375	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1872164	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2062278	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2101247	0.81[AMR][1000 genomes]
rs2159400	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs295428	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs295449	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs295458	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs295461	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3736177	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4858805	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4858848	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4858868	0.83[EUR][1000 genomes]
rs4858888	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4858890	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs553989	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56032309	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56351005	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57346147	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60369822	0.85[AMR][1000 genomes]
rs62246474	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6787422	0.85[EUR][1000 genomes]
rs6792461	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6800271	0.83[EUR][1000 genomes]
rs7613282	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7641010	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7651762	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs807810	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs807931	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8180040	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs922957	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	esv1807553	chr3:47393616-47470763	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11927371	KLHL18	Cis_1M	lymphoblastoid	RTeQTL
rs11927371	SETD2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47386200-47395600	Weak transcription	Ovary	ovary
2	chr3:47386800-47400800	Weak transcription	Pancreas	Pancrea
3	chr3:47387600-47397200	Weak transcription	Lung	lung
4	chr3:47388000-47394800	Weak transcription	Left Ventricle	heart
5	chr3:47388000-47397200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:47388000-47400600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:47389400-47395800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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