Variant report

Variant	rs193300959
Chromosome Location	chr2:179313250-179313251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:179312587-179314225	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:179312669-179313947	K562	blood:	n/a	n/a
3	POLR2A	chr2:179312766-179314289	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:179312727-179313251	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:179313138-179313327	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:179312700-179313427	A549	lung:	n/a	n/a
7	POLR2A	chr2:179313168-179314055	GM12878	blood:	n/a	n/a

No data

(count:6 , 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	chr2:179311363..179318324-chr2:179340414..179346232,28	K562	blood:
4	chr2:179312045..179317660-chr2:179337933..179347437,24	MCF-7	breast:
5	chr2:179276988..179281129-chr2:179311895..179317764,7	MCF-7	breast:
6	chr2:179311612..179313781-chr2:179328660..179331380,2	K562	blood:

No data

Variant related genes	Relation type
DFNB59	TF binding region
PRKRA	TF binding region
ENSG00000223960	Chromatin interaction
ENSG00000116095	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	chr2:179291000-179313400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:179291000-179313600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:179291200-179313600	Strong transcription	Fetal Thymus	thymus
6	chr2:179291200-179313800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:179291400-179313400	Strong transcription	HSMM	muscle
8	chr2:179291400-179313600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr2:179291600-179313400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:179291600-179313600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:179291800-179314000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:179292000-179314600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:179293800-179313600	Strong transcription	Adipose Nuclei	Adipose
14	chr2:179293800-179313800	Strong transcription	HUVEC	blood vessel
15	chr2:179294200-179314200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:179295400-179313600	Strong transcription	Fetal Intestine Large	intestine
17	chr2:179295400-179314000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:179298600-179314400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:179299600-179314800	Weak transcription	Small Intestine	intestine
20	chr2:179302000-179313400	Strong transcription	NHDF-Ad	bronchial
21	chr2:179303200-179313800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:179303200-179313800	Strong transcription	NH-A	brain
23	chr2:179304000-179314200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:179304400-179313400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr2:179304400-179314000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:179304600-179313600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr2:179304600-179314000	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr2:179304600-179314000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:179304800-179314000	Strong transcription	A549	lung
30	chr2:179305000-179313800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:179305000-179314000	Strong transcription	Placenta	Placenta
32	chr2:179305200-179314000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr2:179305400-179314000	Strong transcription	HSMMtube	muscle
34	chr2:179306200-179313600	Strong transcription	Osteobl	bone
35	chr2:179306200-179314400	Weak transcription	Psoas Muscle	Psoas
36	chr2:179306600-179313600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:179306800-179314000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:179308000-179313800	Strong transcription	Primary B cells from cord blood	blood
39	chr2:179308400-179313400	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr2:179308600-179313600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:179310000-179314600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:179310400-179313600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:179310400-179313800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr2:179310400-179313800	Weak transcription	Colonic Mucosa	Colon
45	chr2:179310600-179314000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:179310800-179313600	Weak transcription	Brain Substantia Nigra	brain
47	chr2:179311000-179313800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr2:179311000-179314800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:179311200-179313600	Weak transcription	Aorta	Aorta
50	chr2:179311200-179314600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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