Variant report

Variant	nsv1056856
Chromosome Location	chr20:41214474-41263409
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	BACH1	chr20:41262897-41263215	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr20:41216153-41216346	H1-hESC	embryonic stem cell:	n/a	chr20:41216218-41216232
3	CEBPB	chr20:41218940-41219204	IMR90	lung:	n/a	chr20:41219078-41219089
4	CEBPB	chr20:41218872-41219099	H1-hESC	embryonic stem cell:	n/a	chr20:41219078-41219089
5	CEBPB	chr20:41234470-41234614	K562	blood:	n/a	n/a
6	CEBPB	chr20:41218912-41219204	A549	lung:	n/a	chr20:41219078-41219089
7	CEBPB	chr20:41234364-41234717	HepG2	liver:	n/a	n/a
8	CEBPB	chr20:41251310-41251377	HepG2	liver:	n/a	n/a
9	CEBPB	chr20:41218705-41219269	MCF-7	breast:	n/a	chr20:41219078-41219089
10	CEBPB	chr20:41218909-41219150	K562	blood:	n/a	chr20:41219078-41219089
11	CEBPB	chr20:41240638-41240690	HepG2	liver:	n/a	chr20:41240677-41240688
12	CEBPB	chr20:41218900-41219249	HepG2	liver:	n/a	chr20:41219078-41219089
13	CTCF	chr20:41218580-41218730	GM12871	blood:	n/a	n/a
14	CTCF	chr20:41218781-41218842	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr20:41238800-41238950	GM06990	blood:	n/a	n/a
16	CTCF	chr20:41238877-41238939	K562	blood:	n/a	n/a
17	CTCF	chr20:41238813-41238946	HepG2	liver:	n/a	n/a
18	CTCF	chr20:41238833-41238962	K562	blood:	n/a	n/a
19	CTCF	chr20:41251400-41251550	GM12866	blood:	n/a	n/a
20	CTCF	chr20:41238860-41239010	MCF-7	breast:	n/a	n/a
21	CTCF	chr20:41218700-41218850	Caco-2	colon:	n/a	n/a
22	CTCF	chr20:41218760-41218910	MCF-7	breast:	n/a	n/a
23	CTCF	chr20:41238800-41238950	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr20:41238881-41238962	HepG2	liver:	n/a	n/a
25	CTCF	chr20:41218560-41218710	MCF-7	breast:	n/a	n/a
26	CTCF	chr20:41238859-41238976	MCF-7	breast:	n/a	n/a
27	CTCF	chr20:41221060-41221210	GM12868	blood:	n/a	n/a
28	CTCF	chr20:41229986-41230013	GM10248	blood:	n/a	n/a
29	CTCF	chr20:41223860-41224010	GM12873	blood:	n/a	n/a
30	CTCF	chr20:41238740-41238890	HEK293	kidney:	n/a	n/a
31	CTCF	chr20:41238840-41238990	Caco-2	colon:	n/a	n/a
32	CTCF	chr20:41249720-41249870	WI-38	lung:	n/a	n/a
33	CTCF	chr20:41218660-41218810	HEK293	kidney:	n/a	n/a
34	CTCF	chr20:41238836-41239000	MCF-7	breast:	n/a	n/a
35	CTCF	chr20:41238680-41238830	NHEK	skin:	n/a	n/a
36	CTCF	chr20:41238767-41239033	MCF-7	breast:	n/a	n/a
37	CTCF	chr20:41238800-41238950	NB4	blood:	n/a	n/a
38	CTCF	chr20:41238760-41238910	MCF-7	breast:	n/a	n/a
39	CTCF	chr20:41238652-41239034	MCF-7	breast:	n/a	n/a
40	CTCF	chr20:41218660-41218810	HRE	kidney:	n/a	n/a
41	CTCF	chr20:41261016-41261073	GM10266	blood:	n/a	n/a
42	FAM48A	chr20:41261723-41261813	GM12878	blood:	n/a	n/a
43	FOXA1	chr20:41248958-41249342	HepG2	liver:	n/a	n/a
44	FOXA2	chr20:41248969-41249241	A549	lung:	n/a	n/a
45	FOXA2	chr20:41248867-41249464	A549	lung:	n/a	n/a
46	GATA3	chr20:41257405-41257971	MCF-7	breast:	n/a	n/a
47	JUND	chr20:41232317-41232668	HepG2	liver:	n/a	chr20:41232481-41232488 chr20:41232476-41232487 chr20:41232480-41232489 chr20:41232478-41232489 chr20:41232478-41232490 chr20:41232479-41232489 chr20:41232479-41232488 chr20:41232479-41232489
48	JUND	chr20:41240653-41240695	HepG2	liver:	n/a	n/a
49	JUND	chr20:41217558-41217859	HepG2	liver:	n/a	chr20:41217708-41217718 chr20:41217707-41217718 chr20:41217708-41217718 chr20:41217708-41217718 chr20:41217709-41217718 chr20:41217708-41217718
50	MAFK	chr20:41262913-41263216	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:115299061..115301144-chr20:41248782..41252439,3	MCF-7	breast:
2	chr20:41210269..41211939-chr20:41214857..41217644,2	MCF-7	breast:
3	chr20:41221842..41223467-chr20:41282056..41284683,2	MCF-7	breast:
4	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:
5	chr20:41232529..41235268-chr20:41239023..41240669,2	MCF-7	breast:
6	chr20:41238748..41239268-chr20:41307296..41307807,2	MCF-7	breast:
7	chr20:41223845..41225575-chr20:41225576..41227086,2	MCF-7	breast:
8	chr20:41219224..41221515-chr20:41224161..41226568,2	MCF-7	breast:
9	chr20:41232529..41235268-chr20:41239023..41240669,2	MCF-7	breast:
10	chr1:115299122..115302084-chr20:41239351..41241193,2	MCF-7	breast:
11	chr20:41219224..41221515-chr20:41224161..41226568,2	MCF-7	breast:
12	chr20:41223845..41225575-chr20:41225576..41227086,2	MCF-7	breast:
13	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRSF6-11	chr20:41235334-41235515	NONHSAT079803
2	lnc-SRSF6-11	chr20:41236034-41236199	NONHSAT079803

Variant related genes	Relation type
ENSG00000229892	TF binding region
ENSG00000009307	chromatin interactions

Extended variants
information (count: 1963 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1963 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528249095	chr20:41214494-41214495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144101256	chr20:41214501-41214502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568289599	chr20:41214514-41214515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530816480	chr20:41214533-41214534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75523364	chr20:41214545-41214546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550226262	chr20:41214546-41214547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74946097	chr20:41214547-41214548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74167790	chr20:41214574-41214575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116155278	chr20:41214617-41214618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558588558	chr20:41214635-41214636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573272574	chr20:41214711-41214712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532095058	chr20:41214720-41214721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565827570	chr20:41214749-41214750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375131791	chr20:41214814-41214815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550580857	chr20:41214838-41214839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187733901	chr20:41214874-41214875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575065680	chr20:41214953-41214954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192538731	chr20:41214990-41214991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539357059	chr20:41215066-41215067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541568125	chr20:41215113-41215114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150974206	chr20:41215118-41215119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568476917	chr20:41215122-41215123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545805626	chr20:41215140-41215141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73906967	chr20:41215157-41215158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149689305	chr20:41215158-41215159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561884932	chr20:41215200-41215201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530738798	chr20:41215210-41215211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372737336	chr20:41215217-41215218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145482718	chr20:41215280-41215281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115007001	chr20:41215284-41215285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547971601	chr20:41215289-41215290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185062598	chr20:41215333-41215334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552151172	chr20:41215411-41215412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537356135	chr20:41215456-41215457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565864927	chr20:41215464-41215465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7360336	chr20:41215495-41215496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534780629	chr20:41215542-41215543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372519553	chr20:41215562-41215563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554881917	chr20:41215570-41215571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568592651	chr20:41215643-41215644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537351905	chr20:41215663-41215664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141123965	chr20:41215695-41215696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116683378	chr20:41215831-41215832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146919233	chr20:41215841-41215842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7352831	chr20:41215857-41215858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112828448	chr20:41215877-41215878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375643933	chr20:41215881-41215882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138550011	chr20:41215899-41215900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541882416	chr20:41215929-41215930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6102915	chr20:41215950-41215951	Weak transcription Enhancers	n/a	n/a	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
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	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
Soft tissue tumor	16732325	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
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41206800-41216200	Weak transcription	Gastric	stomach
2	chr20:41207400-41215400	Weak transcription	Pancreas	Pancrea
3	chr20:41207400-41218600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:41215400-41217800	Enhancers	Pancreas	Pancrea
5	chr20:41216200-41216400	Enhancers	Gastric	stomach
6	chr20:41216400-41216800	Weak transcription	Gastric	stomach
7	chr20:41217400-41218000	Enhancers	NHEK	skin
8	chr20:41217800-41221600	Weak transcription	Pancreas	Pancrea
9	chr20:41218600-41219200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr20:41219200-41240200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr20:41221600-41226200	Enhancers	Pancreas	Pancrea
12	chr20:41222600-41223600	Enhancers	Fetal Muscle Leg	muscle
13	chr20:41226200-41232400	Weak transcription	Pancreas	Pancrea
14	chr20:41227000-41227800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr20:41227400-41228000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr20:41227400-41228000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr20:41227400-41228200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr20:41228000-41231200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr20:41231200-41233400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr20:41232400-41232600	Enhancers	Pancreas	Pancrea
21	chr20:41232600-41233000	Weak transcription	Pancreas	Pancrea
22	chr20:41232800-41234400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr20:41233000-41234800	Enhancers	Pancreas	Pancrea
24	chr20:41233800-41234200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr20:41234200-41234600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr20:41234400-41234800	Enhancers	NHEK	skin
27	chr20:41234800-41236000	Weak transcription	NHEK	skin
28	chr20:41236000-41236600	Enhancers	NHEK	skin
29	chr20:41240000-41241600	Enhancers	Fetal Brain Male	brain
30	chr20:41240000-41242800	Enhancers	Fetal Muscle Leg	muscle
31	chr20:41240200-41240400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr20:41240200-41240800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr20:41240400-41240600	Bivalent Enhancer	Fetal Brain Female	brain
34	chr20:41240400-41240800	Enhancers	Fetal Muscle Trunk	muscle
35	chr20:41240400-41241400	Enhancers	Fetal Stomach	stomach
36	chr20:41240600-41242200	Enhancers	Fetal Brain Female	brain
37	chr20:41241000-41242200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr20:41241800-41242400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr20:41242800-41243000	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr20:41249200-41249600	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr20:41249200-41249600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr20:41249200-41249800	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr20:41249200-41249800	Active TSS	Duodenum Mucosa	Duodenum
44	chr20:41251400-41252000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr20:41251400-41253800	Enhancers	NHEK	skin
46	chr20:41251600-41253600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr20:41251800-41252400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr20:41251800-41252600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr20:41253600-41270200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr20:41257000-41258200	Enhancers	Liver	Liver

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