Variant report

Variant	rs12190274
Chromosome Location	chr6:74022293-74022294
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:73927031-73938730..6:74020790-74026830	GM12878	blood:
2	6:74020790-74026830..6:74078047-74099067	Hela-S3	cervix:
3	6:74020790-74026830..6:74062967-74076046	Hela-S3	cervix:
4	6:74020790-74026830..6:74099986-74112890	H1-hESC	embryonic stem cell:	embryo
5	6:73969782-73974110..6:74020790-74026830	GM12878	blood:

Variant related genes	Relation type
ENSG00000203907	Chromatin interaction
ENSG00000203909	Chromatin interaction
ENSG00000243501	Chromatin interaction
ENSG00000231332	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000263378	Chromatin interaction
ENSG00000203908	Chromatin interaction
ENSG00000224221	Chromatin interaction
ENSG00000229852	Chromatin interaction
ENSG00000080007	Chromatin interaction
ENSG00000256980	Chromatin interaction
ENSG00000135314	Chromatin interaction
ENSG00000235174	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10455272	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943084	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943085	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11963438	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199709	1.00[ASN][1000 genomes]
rs12199821	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203786	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207480	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208950	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210588	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213765	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529651	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883518	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883564	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883571	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35542640	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45491600	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55810380	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159527	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411447	0.88[EUR][1000 genomes]
rs62411451	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62438243	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62438245	1.00[ASN][1000 genomes]
rs62440564	0.83[ASN][1000 genomes]
rs62440565	0.83[ASN][1000 genomes]
rs72947904	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv518874	chr6:74014468-74041424	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv966628	chr6:74020000-74034657	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12190274	EIF3EP1	cis	Skin Sun Exposed Lower leg	GTEx
rs12190274	C6orf148	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74020400-74023400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:74020400-74024400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:74020400-74024400	Weak transcription	Right Ventricle	heart
4	chr6:74020400-74027400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:74020600-74024400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:74020600-74024400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:74020600-74024400	Weak transcription	Ovary	ovary
8	chr6:74020600-74024400	Weak transcription	Pancreas	Pancrea

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