Variant report

Variant	rs73828079
Chromosome Location	chr4:79566811-79566812
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	RFX5	chr4:79565665-79568061	IMR90	lung:	n/a	chr4:79566034-79566049 chr4:79566035-79566049 chr4:79566605-79566614 chr4:79566603-79566617 chr4:79566038-79566047 chr4:79566036-79566044
2	POLR2A	chr4:79566761-79567684	U87	brain:	n/a	n/a
3	RFX5	chr4:79564929-79567015	SK-N-SH	brain:	n/a	chr4:79566034-79566049 chr4:79566035-79566049 chr4:79566605-79566614 chr4:79566603-79566617 chr4:79566038-79566047 chr4:79566036-79566044
4	MAFK	chr4:79566593-79567812	K562	blood:	n/a	n/a
5	FOS	chr4:79566642-79567849	HUVEC	blood vessel:	n/a	chr4:79567650-79567657
6	POLR2A	chr4:79566778-79567978	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr4:79566755-79567706	U87	brain:	n/a	n/a
8	CTCF	chr4:79566740-79566890	AoAF	blood vessel:	n/a	n/a
9	CTCF	chr4:79566800-79566950	HPAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:79565693..79569294-chr4:79696000..79698136,3	K562	blood:
2	chr4:79557761..79562686-chr4:79563110..79568703,4	K562	blood:
3	chr4:79564649..79566835-chr4:79572826..79575093,2	K562	blood:
4	chr4:79563690..79568625-chr4:79568843..79572048,4	K562	blood:
5	chr4:79562196..79569044-chr4:79695847..79699797,11	MCF-7	breast:
6	chr4:79563449..79567560-chr4:79569303..79574487,6	K562	blood:
7	chr4:79564080..79567985-chr4:79696414..79698633,7	MCF-7	breast:

Variant related genes	Relation type
LINC01094	TF binding region
ENSG00000251019	Chromatin interaction
ENSG00000238816	Chromatin interaction
ENSG00000260278	Chromatin interaction
ENSG00000138756	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10452151	1.00[AMR][1000 genomes]
rs55994157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56071306	1.00[AMR][1000 genomes]
rs56098630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57648305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57649400	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59055207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59700988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60681937	1.00[AMR][1000 genomes]
rs60950346	1.00[AMR][1000 genomes]
rs60998921	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61075598	1.00[AMR][1000 genomes]
rs61238857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828029	1.00[AMR][1000 genomes]
rs73828034	1.00[AMR][1000 genomes]
rs73828038	1.00[AMR][1000 genomes]
rs73828045	1.00[AMR][1000 genomes]
rs73828046	1.00[AMR][1000 genomes]
rs73828057	1.00[AMR][1000 genomes]
rs73828059	1.00[AMR][1000 genomes]
rs73828064	1.00[AMR][1000 genomes]
rs73828065	1.00[AMR][1000 genomes]
rs73828066	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828067	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828073	1.00[AMR][1000 genomes]
rs73828074	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828080	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828081	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828083	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828092	1.00[AMR][1000 genomes]
rs73828098	1.00[AMR][1000 genomes]
rs73828100	1.00[AMR][1000 genomes]
rs73828102	1.00[AMR][1000 genomes]
rs73830206	1.00[AMR][1000 genomes]
rs73830208	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active 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	41 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	chr4:79551400-79578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:79557200-79568000	Enhancers	Primary B cells from cord blood	blood
3	chr4:79561600-79568000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:79562000-79568000	Enhancers	Primary B cells from peripheral blood	blood
5	chr4:79562800-79567600	Enhancers	Primary hematopoietic stem cells	blood
6	chr4:79563200-79568800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr4:79563400-79567200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:79564000-79568000	Enhancers	Fetal Intestine Large	intestine
9	chr4:79564400-79567000	Weak transcription	Left Ventricle	heart
10	chr4:79564400-79567000	Weak transcription	Spleen	Spleen
11	chr4:79564400-79571400	Weak transcription	Fetal Heart	heart
12	chr4:79564400-79577200	Weak transcription	Fetal Thymus	thymus
13	chr4:79564400-79589600	Weak transcription	Lung	lung
14	chr4:79564600-79567000	Weak transcription	Esophagus	oesophagus
15	chr4:79564600-79567000	Weak transcription	Right Atrium	heart
16	chr4:79564800-79567200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:79564800-79567600	Enhancers	GM12878-XiMat	blood
18	chr4:79565200-79567000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr4:79565400-79567000	Enhancers	Brain Anterior Caudate	brain
20	chr4:79565600-79567200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:79565800-79569000	Weak transcription	Primary T cells from cord blood	blood
22	chr4:79566000-79567000	Enhancers	Fetal Lung	lung
23	chr4:79566000-79567800	Enhancers	Fetal Intestine Small	intestine
24	chr4:79566000-79568000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:79566000-79573200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr4:79566200-79567000	Enhancers	Brain Cingulate Gyrus	brain
27	chr4:79566200-79569400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr4:79566400-79567000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr4:79566400-79567000	Enhancers	HSMM	muscle
30	chr4:79566400-79567200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:79566400-79567600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:79566400-79567600	Enhancers	Placenta	Placenta
33	chr4:79566400-79567800	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr4:79566400-79568000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:79566400-79568000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr4:79566400-79568000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr4:79566400-79568000	Flanking Active TSS	HUVEC	blood vessel
38	chr4:79566400-79568000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr4:79566400-79568000	Flanking Active TSS	NHEK	skin
40	chr4:79566400-79569200	Enhancers	Duodenum Mucosa	Duodenum
41	chr4:79566600-79567000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:79566600-79567000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:79566600-79567000	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr4:79566600-79567000	Enhancers	Rectal Smooth Muscle	rectum
45	chr4:79566600-79567000	Enhancers	HSMMtube	muscle
46	chr4:79566600-79567200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:79566600-79567600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:79566600-79567600	Flanking Active TSS	NHDF-Ad	bronchial
49	chr4:79566600-79567800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:79566600-79567800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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