Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr1:185229116-185229293	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185227220..185229320-chr1:185231592..185234843,4	K562	blood:
2	chr1:185227168..185229528-chr1:185229569..185231674,3	K562	blood:

Variant related genes	Relation type
ENSG00000206640	TF binding region
ENSG00000233583	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11804954	0.98[AFR][1000 genomes]
rs11807870	1.00[AMR][1000 genomes]
rs11811583	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12240005	0.84[AFR][1000 genomes]
rs16823875	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs16823884	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs16823891	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs3766713	0.90[YRI][hapmap];0.93[AFR][1000 genomes]
rs3766716	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs3895195	0.91[LWK][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes]
rs57960155	0.88[AFR][1000 genomes]
rs58031282	0.95[AFR][1000 genomes]
rs58292874	0.98[AFR][1000 genomes]
rs59611551	0.98[AFR][1000 genomes]
rs60064915	0.98[AFR][1000 genomes]
rs6674689	0.84[ASW][hapmap];1.00[AMR][1000 genomes]
rs6679946	0.90[YRI][hapmap];0.95[AFR][1000 genomes]
rs6680028	0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6687946	0.91[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6695308	0.84[ASW][hapmap]
rs73053929	1.00[AMR][1000 genomes]
rs7516303	0.98[AFR][1000 genomes]
rs953701	0.98[AFR][1000 genomes]
rs953702	0.98[AFR][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185193800-185263600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:185210600-185250400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:185214600-185229400	Weak transcription	NHDF-Ad	bronchial
4	chr1:185218800-185269400	Weak transcription	Pancreas	Pancrea
5	chr1:185226800-185231800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:185227000-185247400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:185227200-185230400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:185227400-185229600	Enhancers	Hela-S3	cervix
9	chr1:185227600-185232000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:185227800-185262000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:185228400-185229800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:185228400-185230400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:185228600-185230200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:185228800-185230400	Enhancers	K562	blood
15	chr1:185228800-185230600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:185228800-185250400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:185229000-185229800	Flanking Active TSS	Fetal Heart	heart
18	chr1:185229200-185229400	Enhancers	HMEC	breast
19	chr1:185229200-185229600	Enhancers	Stomach Mucosa	stomach

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