Variant report

Variant	rs541098267
Chromosome Location	chr2:185462905-185462906
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	TAF1	chr2:185462632-185463465	H1-neurons	neurons:	n/a	n/a
2	RAD21	chr2:185461247-185463866	SK-N-SH	brain:	n/a	chr2:185463244-185463258
3	SIN3AK20	chr2:185462885-185463556	PANC-1	pancreas:	n/a	n/a
4	CTCF	chr2:185462880-185463030	SK-N-SH_RA	brain:	n/a	n/a
5	RELA	chr2:185462043-185464668	GM12891	blood:	n/a	n/a
6	POLR2A	chr2:185461631-185464960	Raji	blood:	n/a	n/a
7	POLR2A	chr2:185462276-185463856	GM19193	blood:	n/a	n/a
8	MXI1	chr2:185461442-185464988	IMR90	lung:	n/a	n/a
9	POLR2A	chr2:185461406-185465047	HL-60	blood:	n/a	n/a
10	MXI1	chr2:185461351-185464665	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr2:185462013-185464616	HL-60	blood:	n/a	n/a
12	POLR2A	chr2:185461375-185465153	GM12891	blood:	n/a	n/a
13	POLR2A	chr2:185462080-185463795	H1-neurons	neurons:	n/a	n/a
14	HA-E2F1	chr2:185462753-185464528	MCF-7	breast:	n/a	chr2:185463498-185463507 chr2:185463294-185463304 chr2:185463291-185463301 chr2:185463288-185463298
15	GATA2	chr2:185461995-185464636	SH-SY5Y	brain:	n/a	chr2:185462807-185462815 chr2:185464562-185464570
16	BACH1	chr2:185462885-185463671	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr2:185462268-185463927	H1-neurons	neurons:	n/a	n/a
18	MYC	chr2:185461458-185464935	NB4	blood:	n/a	chr2:185462936-185462945 chr2:185464199-185464209
19	MAX	chr2:185461515-185464880	NB4	blood:	n/a	chr2:185462936-185462945 chr2:185464199-185464209
20	POLR2A	chr2:185461776-185464583	GM19099	blood:	n/a	n/a
21	POLR2A	chr2:185461736-185463826	IMR90	lung:	n/a	n/a
22	POU2F2	chr2:185462888-185463670	GM12891	blood:	n/a	chr2:185462928-185462940 chr2:185462922-185462934
23	POLR2A	chr2:185461498-185464857	NB4	blood:	n/a	n/a
24	REST	chr2:185462114-185462911	HL-60	blood:	n/a	n/a
25	REST	chr2:185461925-185463950	H1-neurons	neurons:	n/a	chr2:185463245-185463263
26	POLR2A	chr2:185462853-185463705	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr2:185462381-185464544	GM18951	blood:	n/a	n/a

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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185461200-185466200	Active TSS	NHLF	lung
2	chr2:185461400-185464000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:185461400-185464000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:185461400-185466200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:185461600-185463200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:185461600-185463800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:185461600-185463800	Active TSS	Primary monocytes fromperipheralblood	blood
8	chr2:185461600-185464000	Active TSS	Brain Angular Gyrus	brain
9	chr2:185461600-185464000	Active TSS	Brain Germinal Matrix	brain
10	chr2:185461600-185464000	Active TSS	Brain Substantia Nigra	brain
11	chr2:185461600-185464400	Active TSS	Brain Cingulate Gyrus	brain
12	chr2:185461600-185464600	Active TSS	Brain Anterior Caudate	brain
13	chr2:185461600-185464600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr2:185461600-185465200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:185461600-185466200	Active TSS	Fetal Brain Female	brain
16	chr2:185461800-185463000	Active TSS	Fetal Brain Male	brain
17	chr2:185461800-185463600	Active TSS	Ovary	ovary
18	chr2:185461800-185464000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:185461800-185464000	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr2:185461800-185464200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
21	chr2:185461800-185464400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr2:185461800-185464800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
23	chr2:185461800-185466000	Active TSS	Fetal Stomach	stomach
24	chr2:185462000-185463000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:185462000-185463000	Active TSS	Colonic Mucosa	Colon
26	chr2:185462000-185463400	Active TSS	HSMMtube	muscle
27	chr2:185462000-185463600	Bivalent/Poised TSS	Stomach Mucosa	stomach
28	chr2:185462000-185463800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr2:185462000-185463800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:185462000-185463800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr2:185462000-185463800	Active TSS	Colon Smooth Muscle	Colon
32	chr2:185462000-185464000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:185462000-185464000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:185462000-185464000	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr2:185462000-185464200	Flanking Active TSS	Liver	Liver
36	chr2:185462000-185464200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
37	chr2:185462000-185464600	Active TSS	Hela-S3	cervix
38	chr2:185462000-185466000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:185462200-185463000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr2:185462200-185463400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:185462200-185463400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:185462200-185463400	Active TSS	Aorta	Aorta
43	chr2:185462200-185463400	Active TSS	Right Ventricle	heart
44	chr2:185462200-185463800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr2:185462200-185463800	Active TSS	Brain Hippocampus Middle	brain
46	chr2:185462200-185463800	Active TSS	Left Ventricle	heart
47	chr2:185462200-185463800	Active TSS	Rectal Smooth Muscle	rectum
48	chr2:185462200-185464000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr2:185462200-185464000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:185462200-185464200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links