Variant report

Variant	rs11118874
Chromosome Location	chr1:222026312-222026313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222025206..222026966-chr1:222027114..222029937,2	K562	blood:
2	chr1:222014971..222016915-chr1:222026148..222029054,2	K562	blood:
3	chr1:222024775..222027186-chr1:222029281..222032631,4	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10746414	1.00[CHB][hapmap]
rs10863657	1.00[ASN][1000 genomes]
rs10863664	0.86[EUR][1000 genomes]
rs11118875	0.84[EUR][1000 genomes]
rs11118883	1.00[CHB][hapmap]
rs11577023	1.00[CHB][hapmap]
rs11579490	1.00[ASN][1000 genomes]
rs11582814	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12083393	1.00[ASN][1000 genomes]
rs12089785	1.00[ASN][1000 genomes]
rs12090948	1.00[ASN][1000 genomes]
rs12095068	1.00[ASN][1000 genomes]
rs12118052	1.00[ASN][1000 genomes]
rs12125690	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12130910	0.84[EUR][1000 genomes]
rs35090621	0.85[EUR][1000 genomes]
rs4308986	0.82[EUR][1000 genomes]
rs4384245	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4528124	0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs4581289	1.00[ASN][1000 genomes]
rs56010022	1.00[ASN][1000 genomes]
rs6604675	0.84[EUR][1000 genomes]
rs6604676	0.84[EUR][1000 genomes]
rs6604677	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604678	1.00[ASN][1000 genomes]
rs6658977	1.00[ASN][1000 genomes]
rs6659311	1.00[ASN][1000 genomes]
rs6668784	1.00[ASN][1000 genomes]
rs66698149	1.00[ASN][1000 genomes]
rs6691170	1.00[ASN][1000 genomes]
rs6699132	0.84[EUR][1000 genomes]
rs67087803	1.00[ASN][1000 genomes]
rs67220535	1.00[ASN][1000 genomes]
rs7544478	0.84[EUR][1000 genomes]
rs7550628	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556214	1.00[ASN][1000 genomes]
rs7556228	1.00[ASN][1000 genomes]

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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription 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	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11118874	XM_117618	cis	multi-tissue	Pritchard

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222019800-222031800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:222019800-222047600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:222020200-222029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:222020600-222031600	Weak transcription	HMEC	breast
5	chr1:222024400-222026400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:222025400-222028600	Weak transcription	NHLF	lung
7	chr1:222025400-222029200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:222025400-222031800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:222025400-222031800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:222025800-222028200	Weak transcription	NHDF-Ad	bronchial
11	chr1:222025800-222029800	Weak transcription	Hela-S3	cervix

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