Variant report

Variant	rs548077498
Chromosome Location	chr2:179313402-179313403
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:179313315-179314235	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:179313306-179314086	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr2:179312587-179314225	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:179313314-179316831	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:179313327-179313837	K562	blood:	n/a	n/a
6	POLR2A	chr2:179312669-179313947	K562	blood:	n/a	n/a
7	POLR2A	chr2:179312766-179314289	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:179313397-179314052	GM12891	blood:	n/a	n/a
9	POLR2A	chr2:179312700-179313427	A549	lung:	n/a	n/a
10	POLR2A	chr2:179313340-179313403	HepG2	liver:	n/a	n/a
11	POLR2A	chr2:179313168-179314055	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:179310863..179318324-chr2:179338966..179346608,29	K562	blood:
2	chr2:179312406..179314073-chr2:179314243..179316047,2	K562	blood:
3	chr2:178976419..178978821-chr2:179313368..179316809,4	K562	blood:
4	chr2:179311363..179318324-chr2:179340414..179346232,28	K562	blood:
5	chr2:179312045..179317660-chr2:179337933..179347437,24	MCF-7	breast:
6	chr2:179276988..179281129-chr2:179311895..179317764,7	MCF-7	breast:
7	chr2:179311612..179313781-chr2:179328660..179331380,2	K562	blood:

No data

Variant related genes	Relation type
PRKRA	TF binding region
DFNB59	TF binding region
ENSG00000223960	Chromatin interaction
ENSG00000116095	Chromatin interaction
ENSG00000155636	Chromatin interaction
ENSG00000079150	Chromatin interaction
ENSG00000180228	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv1817469	chr2:179296271-179319391	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv9296	chr2:179308042-179315047	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	esv3458780	chr2:179312167-179315082	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	esv3458779	chr2:179312250-179314994	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	esv3445737	chr2:179312275-179314988	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
7	esv3458781	chr2:179312298-179314971	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv3458782	chr2:179312312-179314972	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179279800-179313800	Weak transcription	Stomach Mucosa	stomach
2	chr2:179280200-179314600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:179291000-179313600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:179291200-179313600	Strong transcription	Fetal Thymus	thymus
5	chr2:179291200-179313800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:179291400-179313600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr2:179291600-179313600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr2:179291800-179314000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:179292000-179314600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:179293800-179313600	Strong transcription	Adipose Nuclei	Adipose
11	chr2:179293800-179313800	Strong transcription	HUVEC	blood vessel
12	chr2:179294200-179314200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:179295400-179313600	Strong transcription	Fetal Intestine Large	intestine
14	chr2:179295400-179314000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:179298600-179314400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:179299600-179314800	Weak transcription	Small Intestine	intestine
17	chr2:179303200-179313800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:179303200-179313800	Strong transcription	NH-A	brain
19	chr2:179304000-179314200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:179304400-179314000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:179304600-179313600	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr2:179304600-179314000	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr2:179304600-179314000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:179304800-179314000	Strong transcription	A549	lung
25	chr2:179305000-179313800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:179305000-179314000	Strong transcription	Placenta	Placenta
27	chr2:179305200-179314000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr2:179305400-179314000	Strong transcription	HSMMtube	muscle
29	chr2:179306200-179313600	Strong transcription	Osteobl	bone
30	chr2:179306200-179314400	Weak transcription	Psoas Muscle	Psoas
31	chr2:179306600-179313600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:179306800-179314000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:179308000-179313800	Strong transcription	Primary B cells from cord blood	blood
34	chr2:179308600-179313600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr2:179310000-179314600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:179310400-179313600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:179310400-179313800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:179310400-179313800	Weak transcription	Colonic Mucosa	Colon
39	chr2:179310600-179314000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:179310800-179313600	Weak transcription	Brain Substantia Nigra	brain
41	chr2:179311000-179313800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
42	chr2:179311000-179314800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:179311200-179313600	Weak transcription	Aorta	Aorta
44	chr2:179311200-179314600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:179311400-179313600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:179311400-179314200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:179311600-179313600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:179312600-179313600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
49	chr2:179312600-179313600	Genic enhancers	NHEK	skin
50	chr2:179312600-179313800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood

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