Variant report

Variant	rs557658512
Chromosome Location	chr2:185461912-185461913
allele	A/T
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	FOS	chr2:185461602-185462045	MCF10A-Er-Src	breast:	n/a	n/a
2	RAD21	chr2:185461247-185463866	SK-N-SH	brain:	n/a	chr2:185463244-185463258
3	TEAD4	chr2:185461808-185462206	HepG2	liver:	n/a	chr2:185461931-185461940
4	POLR2A	chr2:185461631-185464960	Raji	blood:	n/a	n/a
5	MXI1	chr2:185461442-185464988	IMR90	lung:	n/a	n/a
6	POLR2A	chr2:185461406-185465047	HL-60	blood:	n/a	n/a
7	FOS	chr2:185460909-185462028	HUVEC	blood vessel:	n/a	chr2:185461051-185461060 chr2:185461052-185461059 chr2:185461049-185461061 chr2:185461051-185461059 chr2:185461050-185461059
8	MXI1	chr2:185461351-185464665	SK-N-SH	brain:	n/a	n/a
9	CEBPB	chr2:185461581-185462119	IMR90	lung:	n/a	n/a
10	POLR2A	chr2:185461375-185465153	GM12891	blood:	n/a	n/a
11	JUN	chr2:185461885-185462061	HepG2	liver:	n/a	n/a
12	FOS	chr2:185461603-185461939	MCF10A-Er-Src	breast:	n/a	n/a
13	TCF7L2	chr2:185461759-185462544	PANC-1	pancreas:	n/a	n/a
14	ARID3A	chr2:185461625-185462095	HepG2	liver:	n/a	n/a
15	JUND	chr2:185461851-185462109	HepG2	liver:	n/a	n/a
16	STAT3	chr2:185461540-185461949	MCF10A-Er-Src	breast:	n/a	n/a
17	MYC	chr2:185461458-185464935	NB4	blood:	n/a	chr2:185462936-185462945 chr2:185464199-185464209
18	FOS	chr2:185461524-185462085	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr2:185461887-185462044	MCF10A-Er-Src	breast:	n/a	n/a
20	MAX	chr2:185461515-185464880	NB4	blood:	n/a	chr2:185462936-185462945 chr2:185464199-185464209
21	POLR2A	chr2:185461776-185464583	GM19099	blood:	n/a	n/a
22	POLR2A	chr2:185461736-185463826	IMR90	lung:	n/a	n/a
23	POLR2A	chr2:185461498-185464857	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:185458983..185461957-chr2:185463793..185466566,3	K562	blood:

Variant related genes	Relation type
ZNF804A	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875497	chr2:185134237-185474770	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv875512	chr2:185300641-185474770	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532412	chr2:185347334-186108701	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv1818452	chr2:185428946-185503154	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3437193	chr2:185461732-185464880	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185461200-185462600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
2	chr2:185461200-185462800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:185461200-185466200	Active TSS	NHLF	lung
4	chr2:185461400-185462000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
5	chr2:185461400-185462000	Active TSS	NH-A	brain
6	chr2:185461400-185462600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr2:185461400-185462800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr2:185461400-185462800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:185461400-185464000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:185461400-185464000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:185461400-185466200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:185461600-185462000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr2:185461600-185462000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:185461600-185462000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr2:185461600-185462000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:185461600-185462000	Enhancers	Liver	Liver
17	chr2:185461600-185462000	Enhancers	HSMM	muscle
18	chr2:185461600-185462000	Active TSS	Osteobl	bone
19	chr2:185461600-185462200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:185461600-185462200	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr2:185461600-185462400	Bivalent Enhancer	HepG2	liver
22	chr2:185461600-185462600	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr2:185461600-185463200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:185461600-185463800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:185461600-185463800	Active TSS	Primary monocytes fromperipheralblood	blood
26	chr2:185461600-185464000	Active TSS	Brain Angular Gyrus	brain
27	chr2:185461600-185464000	Active TSS	Brain Germinal Matrix	brain
28	chr2:185461600-185464000	Active TSS	Brain Substantia Nigra	brain
29	chr2:185461600-185464400	Active TSS	Brain Cingulate Gyrus	brain
30	chr2:185461600-185464600	Active TSS	Brain Anterior Caudate	brain
31	chr2:185461600-185464600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr2:185461600-185465200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:185461600-185466200	Active TSS	Fetal Brain Female	brain
34	chr2:185461800-185462000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
35	chr2:185461800-185462000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:185461800-185462000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr2:185461800-185462000	Bivalent/Poised TSS	Primary B cells from peripheral blood	blood
38	chr2:185461800-185462000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:185461800-185462000	Bivalent Enhancer	Fetal Intestine Large	intestine
40	chr2:185461800-185462000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr2:185461800-185462000	Flanking Active TSS	HUVEC	blood vessel
42	chr2:185461800-185462000	Bivalent Enhancer	NHDF-Ad	bronchial
43	chr2:185461800-185462000	Bivalent Enhancer	NHEK	skin
44	chr2:185461800-185462200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:185461800-185462200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
46	chr2:185461800-185462200	Bivalent/Poised TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:185461800-185462200	Enhancers	Adipose Nuclei	Adipose
48	chr2:185461800-185462200	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr2:185461800-185462200	Flanking Bivalent TSS/Enh	A549	lung
50	chr2:185461800-185462400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell

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