Variant report

Variant	nsv178618
Chromosome Location	chr20:52287845-52293962
allele	n/a
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	ARID3A	chr20:52293839-52296298	HepG2	liver:	n/a	chr20:52294107-52294123
2	CEBPB	chr20:52292422-52298255	MCF-7	breast:	n/a	chr20:52294784-52294795 chr20:52292898-52292909 chr20:52293230-52293243 chr20:52295915-52295932 chr20:52293231-52293242
3	CEBPB	chr20:52293116-52293366	HepG2	liver:	n/a	chr20:52293230-52293243 chr20:52293231-52293242
4	CEBPB	chr20:52292886-52292904	HepG2	liver:	n/a	n/a
5	CTCF	chr20:52290680-52290830	Caco-2	colon:	n/a	n/a
6	CTCF	chr20:52288000-52288150	MCF-7	breast:	n/a	n/a
7	EP300	chr20:52293893-52295267	HepG2	liver:	n/a	n/a
8	FOS	chr20:52289101-52289222	MCF10A-Er-Src	breast:	n/a	chr20:52289144-52289154 chr20:52289144-52289153 chr20:52289145-52289152 chr20:52289145-52289154
9	FOS	chr20:52289101-52289301	MCF10A-Er-Src	breast:	n/a	chr20:52289144-52289154 chr20:52289144-52289153 chr20:52289145-52289152 chr20:52289145-52289154
10	FOS	chr20:52289140-52289210	MCF10A-Er-Src	breast:	n/a	chr20:52289144-52289154 chr20:52289144-52289153 chr20:52289145-52289152 chr20:52289145-52289154
11	FOS	chr20:52289102-52289336	MCF10A-Er-Src	breast:	n/a	chr20:52289144-52289154 chr20:52289144-52289153 chr20:52289145-52289152 chr20:52289145-52289154
12	FOSL2	chr20:52288994-52290376	MCF-7	breast:	n/a	chr20:52289144-52289154 chr20:52289144-52289153 chr20:52289145-52289152 chr20:52289145-52289154
13	FOXA1	chr20:52293891-52295049	HepG2	liver:	n/a	n/a
14	HDAC2	chr20:52293753-52295212	HepG2	liver:	n/a	chr20:52294127-52294135 chr20:52294898-52294912 chr20:52294900-52294914 chr20:52294899-52294913
15	HNF4G	chr20:52293914-52295306	HepG2	liver:	n/a	chr20:52295029-52295051 chr20:52294098-52294106 chr20:52294127-52294135 chr20:52295033-52295047 chr20:52295033-52295046 chr20:52294126-52294134 chr20:52294600-52294615 chr20:52295034-52295047 chr20:52295034-52295047 chr20:52295031-52295049 chr20:52295034-52295047 chr20:52295034-52295046 chr20:52295034-52295046
16	MBD4	chr20:52293953-52295327	HepG2	liver:	n/a	n/a
17	MBD4	chr20:52293869-52295453	HepG2	liver:	n/a	n/a
18	MYBL2	chr20:52293934-52295366	HepG2	liver:	n/a	n/a
19	MYBL2	chr20:52293786-52295495	HepG2	liver:	n/a	n/a
20	NFIC	chr20:52293961-52294991	HepG2	liver:	n/a	n/a
21	NFIC	chr20:52293865-52296118	HepG2	liver:	n/a	n/a
22	POLR2A	chr20:52293781-52293844	ProgFib	skin:	n/a	n/a
23	POLR2A	chr20:52293698-52293750	ProgFib	skin:	n/a	n/a
24	POLR2A	chr20:52291131-52291300	ProgFib	skin:	n/a	n/a
25	POLR2A	chr20:52293226-52293235	ProgFib	skin:	n/a	n/a
26	POLR2A	chr20:52291911-52292056	ProgFib	skin:	n/a	n/a
27	POLR2A	chr20:52290882-52290986	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr20:52291658-52291932	H1-hESC	embryonic stem cell:	n/a	n/a
29	RAD21	chr20:52293727-52295113	HepG2	liver:	n/a	chr20:52294673-52294685
30	SP1	chr20:52293873-52295267	HepG2	liver:	n/a	chr20:52294731-52294745
31	TEAD4	chr20:52289199-52289702	A549	lung:	n/a	n/a
32	TEAD4	chr20:52287771-52288350	A549	lung:	n/a	n/a
33	TEAD4	chr20:52293858-52295303	HepG2	liver:	n/a	n/a
34	TEAD4	chr20:52289825-52290318	A549	lung:	n/a	n/a
35	TEAD4	chr20:52292432-52292972	A549	lung:	n/a	n/a
36	TEAD4	chr20:52293497-52295303	A549	lung:	n/a	n/a
37	USF1	chr20:52293618-52293822	HepG2	liver:	n/a	chr20:52293727-52293738
38	ZNF384	chr20:52293905-52294991	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:52289917..52291642-chr20:52294041..52296411,2	K562	blood:
2	chr1:149820155..149822370-chr20:52293518..52295023,2	MCF-7	breast:
3	chr17:57922155..57923678-chr20:52293195..52295297,2	MCF-7	breast:
4	chr20:52293804..52295870-chr20:52297078..52299402,2	K562	blood:
5	chr20:52282635..52286285-chr20:52290622..52294810,4	K562	blood:
6	chr1:149857213..149858924-chr20:52287835..52289728,2	MCF-7	breast:
7	chr20:52293647..52294506-chr3:135102495..135103315,2	MCF-7	breast:
8	chr17:58847653..58850591-chr20:52293280..52296113,2	MCF-7	breast:
9	chr20:52293284..52296681-chr20:52354469..52357320,5	K562	blood:
10	chr20:52293720..52294594-chr20:52486327..52486831,2	MCF-7	breast:
11	chr20:52292606..52295996-chr20:55839810..55843726,4	MCF-7	breast:
12	chr20:52276634..52278992-chr20:52292801..52294676,2	K562	blood:
13	chr15:39704919..39707647-chr20:52293554..52295684,2	MCF-7	breast:
14	chr17:57919302..57920964-chr20:52293056..52294711,2	MCF-7	breast:
15	chr20:52292608..52296429-chr20:52329359..52332532,3	K562	blood:
16	chr20:46297200..46298880-chr20:52293096..52295279,2	MCF-7	breast:
17	chr20:52293539..52297422-chr20:55838657..55844085,6	MCF-7	breast:

Variant related genes	Relation type
RNU7-14P	TF binding region
ENSG00000101144	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000238468	chromatin interactions
ENSG00000203819	chromatin interactions
ENSG00000261716	chromatin interactions
ENSG00000226308	chromatin interactions

Extended variants
information (count: 281 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62206449	chr20:52287852-52287853	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs116571745	chr20:52287864-52287865	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs180808312	chr20:52287891-52287892	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs184598028	chr20:52287919-52287920	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs577668879	chr20:52287937-52287938	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs570760179	chr20:52287957-52287958	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs77095228	chr20:52287980-52287981	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs113516392	chr20:52288034-52288035	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs143955925	chr20:52288044-52288045	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs549291884	chr20:52288099-52288100	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs559305556	chr20:52288102-52288103	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs528449174	chr20:52288106-52288107	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs368478409	chr20:52288141-52288142	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs571677048	chr20:52288159-52288160	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs537192712	chr20:52288201-52288202	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs181327117	chr20:52288259-52288260	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs569897053	chr20:52288260-52288261	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs535733709	chr20:52288289-52288290	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs555667525	chr20:52288311-52288312	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs572272938	chr20:52288354-52288355	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs373772685	chr20:52288356-52288357	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs185705095	chr20:52288368-52288369	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532539884	chr20:52288371-52288372	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs539789925	chr20:52288373-52288374	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs557476615	chr20:52288375-52288376	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs143814943	chr20:52288384-52288385	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs577657871	chr20:52288388-52288389	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs60407619	chr20:52288391-52288392	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs6097517	chr20:52288414-52288415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563518082	chr20:52288509-52288510	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs573928969	chr20:52288540-52288541	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs566986580	chr20:52288553-52288554	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs542827386	chr20:52288567-52288568	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs190512226	chr20:52288573-52288574	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs377002032	chr20:52288604-52288605	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs181788662	chr20:52288608-52288609	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs142947075	chr20:52288646-52288647	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs74275189	chr20:52288673-52288674	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs531015063	chr20:52288698-52288699	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs6022652	chr20:52288724-52288725	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs141459092	chr20:52288769-52288770	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs187251272	chr20:52288770-52288771	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs537046760	chr20:52288809-52288810	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs35235160	chr20:52288827-52288828	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs549203208	chr20:52288859-52288860	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs192430589	chr20:52288867-52288868	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs565926341	chr20:52288892-52288893	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs376114791	chr20:52288940-52288941	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs534651852	chr20:52288942-52288943	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs182475512	chr20:52288943-52288944	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myelodysplastic syndrome	21251322	CNVD
Ductal carcinoma	22052326	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Ovarian cancer	22174824	CNVD
Lung cancer	16740712	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16620391	CNVD
Okamoto syndrome	17623483	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cervical cancer	16585170	CNVD
Ovarian cancer	20844748	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20459607	CNVD
Gastric cancer	18160780	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52277000-52290800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:52278400-52289400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr20:52286200-52292600	Weak transcription	HepG2	liver
4	chr20:52286600-52288000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr20:52287000-52294200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr20:52287600-52288200	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr20:52287600-52288200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr20:52287600-52294200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr20:52287800-52288600	Enhancers	Placenta	Placenta
10	chr20:52288200-52294400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr20:52288600-52289800	Enhancers	Osteobl	bone
12	chr20:52288600-52291800	Weak transcription	Placenta	Placenta
13	chr20:52289000-52289200	Enhancers	NH-A	brain
14	chr20:52289200-52289400	Enhancers	A549	lung
15	chr20:52289200-52289600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr20:52289200-52289600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr20:52289200-52289600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr20:52289200-52289600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr20:52289200-52289600	Enhancers	HSMM	muscle
20	chr20:52289200-52289600	Enhancers	HSMMtube	muscle
21	chr20:52289200-52289600	Flanking Active TSS	NH-A	brain
22	chr20:52289400-52289800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr20:52289400-52289800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr20:52289400-52289800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr20:52289400-52293800	Weak transcription	A549	lung
26	chr20:52289600-52289800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr20:52289600-52293600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr20:52289600-52294000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr20:52289600-52294000	Weak transcription	HSMMtube	muscle
30	chr20:52289600-52294200	Weak transcription	HSMM	muscle
31	chr20:52289600-52294200	Weak transcription	NH-A	brain
32	chr20:52289600-52295400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:52289800-52290000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr20:52289800-52293600	Weak transcription	Osteobl	bone
35	chr20:52289800-52293800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr20:52289800-52294000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr20:52290000-52294000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr20:52290800-52291400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr20:52291400-52296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr20:52291800-52292800	Enhancers	Placenta	Placenta
41	chr20:52292600-52293400	Enhancers	HepG2	liver
42	chr20:52292600-52294400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr20:52292800-52293400	Weak transcription	Placenta	Placenta
44	chr20:52293000-52293600	Enhancers	Liver	Liver
45	chr20:52293000-52294200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr20:52293000-52294400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr20:52293400-52295400	Flanking Active TSS	HepG2	liver
48	chr20:52293400-52299600	Enhancers	Placenta	Placenta
49	chr20:52293600-52294000	Flanking Active TSS	Liver	Liver
50	chr20:52293600-52294000	Enhancers	Monocytes-CD14+_RO01746	blood

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