Variant report

Variant	rs11161584
Chromosome Location	chr1:85755127-85755128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85740925..85743894-chr1:85754039..85756993,2	MCF-7	breast:
2	chr1:85749527..85752168-chr1:85753646..85756237,2	MCF-7	breast:
3	chr1:85742429..85744810-chr1:85753404..85755662,2	K562	blood:

Variant related genes	Relation type
ENSG00000142867	Chromatin interaction
ENSG00000223653	Chromatin interaction
ENSG00000264380	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11161556	0.87[EUR][1000 genomes]
rs11161574	0.94[EUR][1000 genomes]
rs11577656	0.84[EUR][1000 genomes]
rs11583836	0.86[EUR][1000 genomes]
rs12563295	0.84[EUR][1000 genomes]
rs17123650	0.85[EUR][1000 genomes]
rs2252408	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2735593	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2735594	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36006436	0.84[EUR][1000 genomes]
rs4949892	0.89[EUR][1000 genomes]
rs4949926	0.93[EUR][1000 genomes]
rs60156243	0.89[EUR][1000 genomes]
rs6663690	0.88[EUR][1000 genomes]
rs6671589	0.87[EUR][1000 genomes]
rs6693365	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72722624	0.83[EUR][1000 genomes]
rs72722631	0.84[EUR][1000 genomes]
rs72722638	0.85[EUR][1000 genomes]
rs72722643	0.87[EUR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11161584	C1orf52	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85742800-85763000	Weak transcription	Ovary	ovary
2	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
3	chr1:85748600-85764000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:85749800-85755400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:85750000-85761400	Weak transcription	Lung	lung
6	chr1:85750000-85762800	Weak transcription	Pancreas	Pancrea
7	chr1:85750400-85762800	Weak transcription	Fetal Intestine Small	intestine
8	chr1:85750800-85755800	Weak transcription	Esophagus	oesophagus
9	chr1:85750800-85763800	Weak transcription	Primary B cells from cord blood	blood
10	chr1:85752200-85762800	Weak transcription	Aorta	Aorta
11	chr1:85752400-85760600	Weak transcription	Fetal Stomach	stomach
12	chr1:85752800-85755400	Enhancers	NHEK	skin
13	chr1:85753600-85755400	Enhancers	HMEC	breast
14	chr1:85753600-85755600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:85753600-85758400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:85753600-85758600	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:85753800-85755400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:85754000-85756600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:85754200-85758400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:85754400-85757600	Enhancers	NHDF-Ad	bronchial
21	chr1:85754400-85757800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:85754600-85755800	Weak transcription	Stomach Mucosa	stomach
23	chr1:85755000-85755200	Enhancers	A549	lung
24	chr1:85755000-85755200	Enhancers	GM12878-XiMat	blood
25	chr1:85755000-85755800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:85755000-85756000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:85755000-85756200	Enhancers	HUVEC	blood vessel
28	chr1:85755000-85756400	Enhancers	Hela-S3	cervix
29	chr1:85755000-85757400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:85755000-85757600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:85755000-85757600	Enhancers	Osteobl	bone
32	chr1:85755000-85757800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:85755000-85757800	Enhancers	NH-A	brain
34	chr1:85755000-85758400	Enhancers	NHLF	lung

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