Variant report

Variant	rs59325217
Chromosome Location	chr1:161277855-161277856
allele	A/C
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	CEBPB	chr1:161277740-161278034	A549	lung:	n/a	chr1:161277903-161277914 chr1:161277903-161277916
2	ARID3A	chr1:161277811-161278038	K562	blood:	n/a	n/a
3	CEBPB	chr1:161277693-161278025	K562	blood:	n/a	chr1:161277903-161277914 chr1:161277903-161277916
4	CEBPB	chr1:161277734-161278085	IMR90	lung:	n/a	chr1:161277903-161277914 chr1:161277903-161277916
5	FOS	chr1:161277772-161277972	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr1:161277751-161278040	HepG2	liver:	n/a	chr1:161277903-161277914 chr1:161277903-161277916
7	CEBPB	chr1:161277732-161278078	K562	blood:	n/a	chr1:161277903-161277914 chr1:161277903-161277916
8	CEBPB	chr1:161277727-161278089	Hela-S3	cervix:	n/a	chr1:161277903-161277914 chr1:161277903-161277916

No.	Distal block	Cell Line	Cell type
1	chr1:161150561..161152446-chr1:161277325..161279650,2	K562	blood:
2	chr1:161275235..161277911-chr1:161283525..161285261,2	MCF-7	breast:
3	chr1:161167464..161169651-chr1:161275959..161277953,2	K562	blood:
4	chr1:161122555..161125252-chr1:161276427..161278072,2	K562	blood:
5	chr1:161195862..161198260-chr1:161276077..161278142,2	K562	blood:
6	chr1:161192625..161198260-chr1:161274899..161278564,8	K562	blood:
7	chr1:161178175..161181614-chr1:161276082..161277879,3	K562	blood:

Variant related genes	Relation type
MPZ	TF binding region
ENSG00000158864	Chromatin interaction
ENSG00000158882	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000263548	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000158874	Chromatin interaction
ENSG00000143222	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16832814	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832845	0.85[AFR][1000 genomes]
rs4590682	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56718047	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60821801	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60878329	0.85[AFR][1000 genomes]
rs60928728	0.85[AFR][1000 genomes]
rs61157192	0.85[AFR][1000 genomes]
rs61271734	1.00[AMR][1000 genomes]
rs61458643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61602668	1.00[AMR][1000 genomes]
rs73024038	0.85[AFR][1000 genomes]
rs73024061	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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 miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161276000-161279600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:161276000-161283800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:161276200-161278200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:161276200-161278400	Enhancers	NHLF	lung
5	chr1:161276200-161278800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:161276200-161278800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:161276200-161283200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:161276200-161283600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:161276400-161278000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:161276400-161278000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:161276400-161278000	Enhancers	Fetal Muscle Leg	muscle
12	chr1:161276400-161278200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:161276400-161278400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:161276400-161278400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:161276400-161278400	Enhancers	HMEC	breast
16	chr1:161276400-161278600	Enhancers	Osteobl	bone
17	chr1:161276400-161278800	Enhancers	Brain Hippocampus Middle	brain
18	chr1:161276400-161279000	Enhancers	NHDF-Ad	bronchial
19	chr1:161276400-161279600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:161276400-161282200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:161276400-161283400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:161276400-161283400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:161276400-161283400	Weak transcription	Liver	Liver
24	chr1:161276400-161283600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:161276600-161278200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:161276600-161278200	Enhancers	A549	lung
27	chr1:161276600-161281200	Weak transcription	Fetal Kidney	kidney
28	chr1:161276600-161282800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:161276600-161283400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:161276600-161283400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:161276600-161283400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr1:161276600-161283400	Weak transcription	Right Atrium	heart
33	chr1:161276600-161283600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:161276800-161278400	Enhancers	GM12878-XiMat	blood
35	chr1:161276800-161283400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr1:161276800-161283400	Weak transcription	Brain Angular Gyrus	brain
37	chr1:161276800-161283400	Weak transcription	Brain Anterior Caudate	brain
38	chr1:161277000-161278800	Enhancers	HSMMtube	muscle
39	chr1:161277000-161281000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:161277000-161283600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:161277200-161278000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:161277200-161278000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:161277200-161278200	Weak transcription	Gastric	stomach
44	chr1:161277200-161278600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:161277200-161278800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:161277200-161280200	Weak transcription	NHEK	skin
47	chr1:161277200-161283000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:161277200-161283400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr1:161277200-161283400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:161277200-161283400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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