Variant report

Variant	nsv528161
Chromosome Location	chr20:41202935-41297693
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:147 , 50 per page) page: 1 2 3

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	chr20:41234364-41234717	HepG2	liver:	n/a	n/a
4	CEBPB	chr20:41274989-41275199	HepG2	liver:	n/a	n/a
5	CEBPB	chr20:41282814-41283026	HepG2	liver:	n/a	chr20:41282919-41282930
6	CEBPB	chr20:41234470-41234614	K562	blood:	n/a	n/a
7	CEBPB	chr20:41218900-41219249	HepG2	liver:	n/a	chr20:41219078-41219089
8	CEBPB	chr20:41218940-41219204	IMR90	lung:	n/a	chr20:41219078-41219089
9	CEBPB	chr20:41240638-41240690	HepG2	liver:	n/a	chr20:41240677-41240688
10	CEBPB	chr20:41203262-41203461	HepG2	liver:	n/a	chr20:41203427-41203438
11	CEBPB	chr20:41203381-41203449	K562	blood:	n/a	chr20:41203427-41203438
12	CEBPB	chr20:41251310-41251377	HepG2	liver:	n/a	n/a
13	CEBPB	chr20:41218909-41219150	K562	blood:	n/a	chr20:41219078-41219089
14	CEBPB	chr20:41218872-41219099	H1-hESC	embryonic stem cell:	n/a	chr20:41219078-41219089
15	CEBPB	chr20:41265532-41265732	HepG2	liver:	n/a	chr20:41265590-41265603 chr20:41265591-41265602
16	CEBPB	chr20:41218705-41219269	MCF-7	breast:	n/a	chr20:41219078-41219089
17	CEBPB	chr20:41269498-41269701	HepG2	liver:	n/a	chr20:41269631-41269642
18	CEBPB	chr20:41218912-41219204	A549	lung:	n/a	chr20:41219078-41219089
19	CEBPB	chr20:41279055-41279225	H1-hESC	embryonic stem cell:	n/a	chr20:41279114-41279125
20	CTCF	chr20:41238760-41238910	MCF-7	breast:	n/a	n/a
21	CTCF	chr20:41205882-41206179	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr20:41238680-41238830	NHEK	skin:	n/a	n/a
23	CTCF	chr20:41261016-41261073	GM10266	blood:	n/a	n/a
24	CTCF	chr20:41251400-41251550	GM12866	blood:	n/a	n/a
25	CTCF	chr20:41238800-41238950	NB4	blood:	n/a	n/a
26	CTCF	chr20:41266833-41266917	Lung_OC	lung:	n/a	n/a
27	CTCF	chr20:41280200-41280350	GM12868	blood:	n/a	n/a
28	CTCF	chr20:41218660-41218810	HRE	kidney:	n/a	n/a
29	CTCF	chr20:41238800-41238950	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr20:41282980-41283130	K562	blood:	n/a	n/a
31	CTCF	chr20:41218560-41218710	MCF-7	breast:	n/a	n/a
32	CTCF	chr20:41238877-41238939	K562	blood:	n/a	n/a
33	CTCF	chr20:41223860-41224010	GM12873	blood:	n/a	n/a
34	CTCF	chr20:41238860-41239010	MCF-7	breast:	n/a	n/a
35	CTCF	chr20:41238813-41238946	HepG2	liver:	n/a	n/a
36	CTCF	chr20:41279180-41279330	GM12873	blood:	n/a	n/a
37	CTCF	chr20:41238881-41238962	HepG2	liver:	n/a	n/a
38	CTCF	chr20:41218660-41218810	HEK293	kidney:	n/a	n/a
39	CTCF	chr20:41296531-41296567	GM13977	blood:	n/a	n/a
40	CTCF	chr20:41238840-41238990	Caco-2	colon:	n/a	n/a
41	CTCF	chr20:41221060-41221210	GM12868	blood:	n/a	n/a
42	CTCF	chr20:41238833-41238962	K562	blood:	n/a	n/a
43	CTCF	chr20:41218781-41218842	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr20:41218580-41218730	GM12871	blood:	n/a	n/a
45	CTCF	chr20:41205876-41206105	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr20:41205937-41206102	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr20:41205980-41206130	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr20:41238859-41238976	MCF-7	breast:	n/a	n/a
49	CTCF	chr20:41203516-41203540	GM20000	blood:	n/a	n/a
50	CTCF	chr20:41218700-41218850	Caco-2	colon:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:41238748..41239268-chr20:41307296..41307807,2	MCF-7	breast:
2	chr20:41219224..41221515-chr20:41224161..41226568,2	MCF-7	breast:
3	chr20:41221842..41223467-chr20:41282056..41284683,2	MCF-7	breast:
4	chr1:115299122..115302084-chr20:41239351..41241193,2	MCF-7	breast:
5	chr1:115296501..115298139-chr20:41277950..41280016,2	MCF-7	breast:
6	chr1:115299061..115301144-chr20:41248782..41252439,3	MCF-7	breast:
7	chr20:41219224..41221515-chr20:41224161..41226568,2	MCF-7	breast:
8	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:
9	chr20:41210269..41211939-chr20:41214857..41217644,2	MCF-7	breast:
10	chr20:41221842..41223467-chr20:41282056..41284683,2	MCF-7	breast:
11	chr20:41232529..41235268-chr20:41239023..41240669,2	MCF-7	breast:
12	chr20:41223845..41225575-chr20:41225576..41227086,2	MCF-7	breast:
13	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:
14	chr20:41223845..41225575-chr20:41225576..41227086,2	MCF-7	breast:
15	chr20:41183351..41185462-chr20:41211169..41213368,2	MCF-7	breast:
16	chr20:41210269..41211939-chr20:41214857..41217644,2	MCF-7	breast:
17	chr20:41232529..41235268-chr20:41239023..41240669,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 3846 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3846 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6102912	chr20:41202935-41202936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539330387	chr20:41202939-41202940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6102913	chr20:41202958-41202959	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568908320	chr20:41202959-41202960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541535130	chr20:41203000-41203001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554596864	chr20:41203016-41203017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147660920	chr20:41203018-41203019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532939947	chr20:41203091-41203092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543656379	chr20:41203290-41203291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190035720	chr20:41203334-41203335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532876352	chr20:41203369-41203370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549666386	chr20:41203371-41203372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6065512	chr20:41203383-41203384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559323405	chr20:41203400-41203401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528029711	chr20:41203401-41203402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548318291	chr20:41203411-41203412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569485854	chr20:41203426-41203427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530616331	chr20:41203469-41203470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6065513	chr20:41203520-41203521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181250465	chr20:41203527-41203528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141470605	chr20:41203534-41203535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369878564	chr20:41203543-41203544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372784653	chr20:41203625-41203626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35776220	chr20:41203627-41203628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539735031	chr20:41203630-41203631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551422819	chr20:41203639-41203640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143596096	chr20:41203644-41203645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566744468	chr20:41203678-41203679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538391781	chr20:41203755-41203756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185838737	chr20:41203765-41203766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554541526	chr20:41203772-41203773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574621279	chr20:41203802-41203803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537133220	chr20:41203815-41203816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557150170	chr20:41203824-41203825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62203791	chr20:41203845-41203846	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs546481610	chr20:41203878-41203879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555227586	chr20:41203923-41203924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62203792	chr20:41203924-41203925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537689582	chr20:41203941-41203942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541891001	chr20:41203965-41203966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4810361	chr20:41203971-41203972	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs76027104	chr20:41203973-41203974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6016832	chr20:41204022-41204023	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs148045249	chr20:41204054-41204055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551945048	chr20:41204056-41204057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58478941	chr20:41204057-41204058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546881577	chr20:41204107-41204108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140829109	chr20:41204119-41204120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190560551	chr20:41204140-41204141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548212783	chr20:41204144-41204145	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41200400-41204800	Enhancers	Pancreas	Pancrea
2	chr20:41202200-41206000	Weak transcription	Gastric	stomach
3	chr20:41203200-41203400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr20:41203400-41206000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr20:41204000-41204200	Enhancers	Duodenum Mucosa	Duodenum
6	chr20:41204000-41204200	Enhancers	Fetal Stomach	stomach
7	chr20:41204400-41205000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr20:41204800-41205200	Flanking Active TSS	Pancreas	Pancrea
9	chr20:41205000-41205200	Bivalent Enhancer	Fetal Stomach	stomach
10	chr20:41205000-41210000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr20:41205200-41207400	Enhancers	Pancreas	Pancrea
12	chr20:41206000-41206800	Enhancers	Gastric	stomach
13	chr20:41206000-41207400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr20:41206200-41206400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr20:41206800-41216200	Weak transcription	Gastric	stomach
16	chr20:41207400-41215400	Weak transcription	Pancreas	Pancrea
17	chr20:41207400-41218600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr20:41209800-41210800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr20:41210000-41210800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr20:41210400-41210800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr20:41210800-41212800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr20:41212800-41213600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr20:41213000-41213600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr20:41215400-41217800	Enhancers	Pancreas	Pancrea
25	chr20:41216200-41216400	Enhancers	Gastric	stomach
26	chr20:41216400-41216800	Weak transcription	Gastric	stomach
27	chr20:41217400-41218000	Enhancers	NHEK	skin
28	chr20:41217800-41221600	Weak transcription	Pancreas	Pancrea
29	chr20:41218600-41219200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr20:41219200-41240200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr20:41221600-41226200	Enhancers	Pancreas	Pancrea
32	chr20:41222600-41223600	Enhancers	Fetal Muscle Leg	muscle
33	chr20:41226200-41232400	Weak transcription	Pancreas	Pancrea
34	chr20:41227000-41227800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr20:41227400-41228000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr20:41227400-41228000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr20:41227400-41228200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr20:41228000-41231200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr20:41231200-41233400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr20:41232400-41232600	Enhancers	Pancreas	Pancrea
41	chr20:41232600-41233000	Weak transcription	Pancreas	Pancrea
42	chr20:41232800-41234400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr20:41233000-41234800	Enhancers	Pancreas	Pancrea
44	chr20:41233800-41234200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr20:41234200-41234600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr20:41234400-41234800	Enhancers	NHEK	skin
47	chr20:41234800-41236000	Weak transcription	NHEK	skin
48	chr20:41236000-41236600	Enhancers	NHEK	skin
49	chr20:41240000-41241600	Enhancers	Fetal Brain Male	brain
50	chr20:41240000-41242800	Enhancers	Fetal Muscle Leg	muscle

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