Variant report

Variant	rs10766478
Chromosome Location	chr11:18434716-18434717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18432049..18434102-chr11:18434419..18436036,2	K562	blood:
2	chr11:18415873..18420206-chr11:18430045..18435036,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134333	Chromatin interaction
ENSG00000166796	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10766475	0.84[ASN][1000 genomes]
rs10832930	0.84[ASN][1000 genomes]
rs10832931	0.84[ASN][1000 genomes]
rs10832932	0.84[ASN][1000 genomes]
rs10832933	0.81[ASN][1000 genomes]
rs1830426	0.82[ASN][1000 genomes]
rs1881716	0.83[ASN][1000 genomes]
rs1969562	0.82[ASN][1000 genomes]
rs1969563	0.82[ASN][1000 genomes]
rs2249631	0.82[ASN][1000 genomes]
rs2403279	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2698564	0.91[EUR][1000 genomes]
rs2721123	0.83[ASN][1000 genomes]
rs3758680	0.84[ASN][1000 genomes]
rs3758682	0.83[ASN][1000 genomes]
rs3781641	0.84[ASN][1000 genomes]
rs3809096	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3809097	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4274186	0.82[ASN][1000 genomes]
rs5030621	0.84[ASN][1000 genomes]
rs6486421	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6486425	0.84[ASN][1000 genomes]
rs7111748	0.82[ASN][1000 genomes]
rs7112492	0.86[AMR][1000 genomes]
rs7120485	0.82[ASN][1000 genomes]
rs7121244	0.82[ASN][1000 genomes]
rs7128549	0.82[ASN][1000 genomes]
rs7130990	0.82[ASN][1000 genomes]
rs7947664	0.84[ASN][1000 genomes]
rs7951953	0.91[AMR][1000 genomes];0.85[ASN][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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs10766478	LDHC	cis	Artery Tibial	GTEx
rs10766478	LDHC	cis	Muscle Skeletal	GTEx
rs10766478	TSG101	Cis_1M	lymphoblastoid	RTeQTL
rs10766478	LDHC	cis	Skin Sun Exposed Lower leg	GTEx
rs10766478	LDHC	cis	Adipose Subcutaneous	GTEx
rs10766478	LDHC	cis	Nerve Tibial	GTEx
rs10766478	LDHC	cis	lung	GTEx
rs10766478	LDHC	cis	Esophagus Muscularis	GTEx
rs10766478	LDHC	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18430200-18440200	Weak transcription	K562	blood
2	chr11:18434200-18442200	Weak transcription	Pancreas	Pancrea
3	chr11:18434400-18438800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:18434600-18435000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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