Variant report

Variant	rs489454
Chromosome Location	chr11:120077259-120077260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr11:120077110-120077270	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120076442..120079107-chr11:120106498..120108828,2	K562	blood:

Variant related genes	Relation type
OAF	TF binding region
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1287393	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1287395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2253006	0.92[EUR][1000 genomes]
rs2444241	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2444242	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2444243	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2508495	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2508496	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2509623	0.92[EUR][1000 genomes]
rs2845702	0.86[EUR][1000 genomes]
rs2845708	0.97[EUR][1000 genomes]
rs2847499	0.87[EUR][1000 genomes]
rs476809	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs477863	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs492275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513944	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs521841	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs536743	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs537907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs540857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs547990	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs562966	1.00[ASN][1000 genomes]
rs896695	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120068800-120078400	Weak transcription	Small Intestine	intestine
2	chr11:120069800-120078400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:120071400-120078400	Weak transcription	Brain Anterior Caudate	brain
4	chr11:120074600-120079400	Weak transcription	Fetal Intestine Large	intestine
5	chr11:120074800-120078400	Weak transcription	Fetal Intestine Small	intestine
6	chr11:120074800-120078600	Weak transcription	Fetal Muscle Leg	muscle
7	chr11:120075200-120081000	Enhancers	Pancreas	Pancrea
8	chr11:120075600-120078000	Weak transcription	Fetal Kidney	kidney
9	chr11:120075600-120078200	Weak transcription	Fetal Lung	lung
10	chr11:120075600-120078400	Enhancers	HepG2	liver
11	chr11:120075800-120078600	Enhancers	Liver	Liver
12	chr11:120076000-120078000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr11:120076200-120078400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:120076200-120078400	Weak transcription	Esophagus	oesophagus
15	chr11:120076200-120078800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:120076200-120080600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:120076200-120080600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:120076400-120078600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:120076400-120078800	Weak transcription	HSMM	muscle
20	chr11:120076400-120079400	Weak transcription	NH-A	brain
21	chr11:120076600-120078200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:120076600-120078400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:120076600-120078600	Weak transcription	Osteobl	bone
24	chr11:120076600-120080600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:120076800-120078400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:120076800-120078400	Weak transcription	NHDF-Ad	bronchial
27	chr11:120076800-120078600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:120076800-120078600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:120076800-120078800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:120076800-120078800	Weak transcription	NHLF	lung
31	chr11:120076800-120079000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:120076800-120079200	Weak transcription	NHEK	skin
33	chr11:120077000-120080600	Enhancers	Fetal Stomach	stomach
34	chr11:120077000-120080800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:120077200-120077800	Enhancers	Fetal Thymus	thymus
36	chr11:120077200-120077800	Enhancers	Spleen	Spleen
37	chr11:120077200-120078600	Weak transcription	HMEC	breast
38	chr11:120077200-120078800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:120077200-120078800	Weak transcription	HSMMtube	muscle

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