Variant report

Variant	nsv526415
Chromosome Location	chr20:41184009-41290936
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	chr20:41216153-41216346	H1-hESC	embryonic stem cell:	n/a	chr20:41216218-41216232
2	BACH1	chr20:41262897-41263215	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr20:41192599-41192856	GM12878	blood:	n/a	chr20:41192720-41192731
4	CEBPB	chr20:41218912-41219204	A549	lung:	n/a	chr20:41219078-41219089
5	CEBPB	chr20:41279055-41279225	H1-hESC	embryonic stem cell:	n/a	chr20:41279114-41279125
6	CEBPB	chr20:41185337-41185525	K562	blood:	n/a	chr20:41185398-41185407 chr20:41185398-41185409 chr20:41185398-41185407 chr20:41185396-41185409 chr20:41185396-41185407 chr20:41185396-41185409 chr20:41185398-41185407 chr20:41185398-41185407
7	CEBPB	chr20:41218909-41219150	K562	blood:	n/a	chr20:41219078-41219089
8	CEBPB	chr20:41185258-41185572	A549	lung:	n/a	chr20:41185398-41185407 chr20:41185398-41185409 chr20:41185398-41185407 chr20:41185396-41185409 chr20:41185396-41185407 chr20:41185396-41185409 chr20:41185398-41185407 chr20:41185398-41185407
9	CEBPB	chr20:41234364-41234717	HepG2	liver:	n/a	n/a
10	CEBPB	chr20:41201173-41201616	MCF-7	breast:	n/a	n/a
11	CEBPB	chr20:41265532-41265732	HepG2	liver:	n/a	chr20:41265590-41265603 chr20:41265591-41265602
12	CEBPB	chr20:41269498-41269701	HepG2	liver:	n/a	chr20:41269631-41269642
13	CEBPB	chr20:41218940-41219204	IMR90	lung:	n/a	chr20:41219078-41219089
14	CEBPB	chr20:41251310-41251377	HepG2	liver:	n/a	n/a
15	CEBPB	chr20:41218705-41219269	MCF-7	breast:	n/a	chr20:41219078-41219089
16	CEBPB	chr20:41240638-41240690	HepG2	liver:	n/a	chr20:41240677-41240688
17	CEBPB	chr20:41201099-41202020	MCF-7	breast:	n/a	chr20:41201766-41201777 chr20:41201766-41201779
18	CEBPB	chr20:41282814-41283026	HepG2	liver:	n/a	chr20:41282919-41282930
19	CEBPB	chr20:41203381-41203449	K562	blood:	n/a	chr20:41203427-41203438
20	CEBPB	chr20:41218872-41219099	H1-hESC	embryonic stem cell:	n/a	chr20:41219078-41219089
21	CEBPB	chr20:41218900-41219249	HepG2	liver:	n/a	chr20:41219078-41219089
22	CEBPB	chr20:41234470-41234614	K562	blood:	n/a	n/a
23	CEBPB	chr20:41274989-41275199	HepG2	liver:	n/a	n/a
24	CEBPB	chr20:41185225-41185588	HepG2	liver:	n/a	chr20:41185398-41185407 chr20:41185398-41185409 chr20:41185398-41185407 chr20:41185396-41185409 chr20:41185396-41185407 chr20:41185396-41185409 chr20:41185398-41185407 chr20:41185398-41185407
25	CEBPB	chr20:41203262-41203461	HepG2	liver:	n/a	chr20:41203427-41203438
26	CTCF	chr20:41218781-41218842	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr20:41205882-41206179	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr20:41279180-41279330	GM12873	blood:	n/a	n/a
29	CTCF	chr20:41218700-41218850	Caco-2	colon:	n/a	n/a
30	CTCF	chr20:41238881-41238962	HepG2	liver:	n/a	n/a
31	CTCF	chr20:41223860-41224010	GM12873	blood:	n/a	n/a
32	CTCF	chr20:41218760-41218910	MCF-7	breast:	n/a	n/a
33	CTCF	chr20:41200920-41201070	MCF-7	breast:	n/a	n/a
34	CTCF	chr20:41238800-41238950	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr20:41238800-41238950	GM06990	blood:	n/a	n/a
36	CTCF	chr20:41238740-41238890	HEK293	kidney:	n/a	n/a
37	CTCF	chr20:41198747-41198830	MCF-7	breast:	n/a	n/a
38	CTCF	chr20:41201874-41201950	H1-hESC	embryonic stem cell:	n/a	chr20:41201931-41201940
39	CTCF	chr20:41238813-41238946	HepG2	liver:	n/a	n/a
40	CTCF	chr20:41201800-41201950	WERI-Rb-1	eye:	n/a	chr20:41201931-41201940
41	CTCF	chr20:41218660-41218810	HRE	kidney:	n/a	n/a
42	CTCF	chr20:41201861-41201974	MCF-7	breast:	n/a	chr20:41201931-41201940
43	CTCF	chr20:41218660-41218810	HEK293	kidney:	n/a	n/a
44	CTCF	chr20:41218560-41218710	MCF-7	breast:	n/a	n/a
45	CTCF	chr20:41221060-41221210	GM12868	blood:	n/a	n/a
46	CTCF	chr20:41238836-41239000	MCF-7	breast:	n/a	n/a
47	CTCF	chr20:41238833-41238962	K562	blood:	n/a	n/a
48	CTCF	chr20:41251400-41251550	GM12866	blood:	n/a	n/a
49	CTCF	chr20:41261016-41261073	GM10266	blood:	n/a	n/a
50	CTCF	chr20:41238680-41238830	NHEK	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:41210269..41211939-chr20:41214857..41217644,2	MCF-7	breast:
2	chr20:41232529..41235268-chr20:41239023..41240669,2	MCF-7	breast:
3	chr20:41238748..41239268-chr20:41307296..41307807,2	MCF-7	breast:
4	chr20:41223845..41225575-chr20:41225576..41227086,2	MCF-7	breast:
5	chr20:41186370..41189085-chr20:41189896..41191987,2	MCF-7	breast:
6	chr20:41183922..41185722-chr20:41188691..41191209,2	K562	blood:
7	chr20:41232529..41235268-chr20:41239023..41240669,2	MCF-7	breast:
8	chr20:41221842..41223467-chr20:41282056..41284683,2	MCF-7	breast:
9	chr20:41221842..41223467-chr20:41282056..41284683,2	MCF-7	breast:
10	chr20:41190947..41193604-chr20:41196031..41197655,2	MCF-7	breast:
11	chr1:115296501..115298139-chr20:41277950..41280016,2	MCF-7	breast:
12	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:
13	chr20:41223845..41225575-chr20:41225576..41227086,2	MCF-7	breast:
14	chr20:41189320..41191294-chr20:41193549..41196029,2	MCF-7	breast:
15	chr20:41183922..41185722-chr20:41188691..41191209,2	K562	blood:
16	chr20:41210269..41211939-chr20:41214857..41217644,2	MCF-7	breast:
17	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:
18	chr20:41190947..41193604-chr20:41196031..41197655,2	MCF-7	breast:
19	chr20:41189320..41191294-chr20:41193549..41196029,2	MCF-7	breast:
20	chr20:41219224..41221515-chr20:41224161..41226568,2	MCF-7	breast:
21	chr20:41158587..41161005-chr20:41184135..41185897,2	MCF-7	breast:
22	chr1:115299061..115301144-chr20:41248782..41252439,3	MCF-7	breast:
23	chr1:115299122..115302084-chr20:41239351..41241193,2	MCF-7	breast:
24	chr20:41183351..41185462-chr20:41211169..41213368,2	MCF-7	breast:
25	chr20:41186370..41189085-chr20:41189896..41191987,2	MCF-7	breast:
26	chr20:41183351..41185462-chr20:41211169..41213368,2	MCF-7	breast:
27	chr20:41219224..41221515-chr20:41224161..41226568,2	MCF-7	breast:

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

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

Extended variants
information (count: 4242 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:4242 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6016826	chr20:41184009-41184010	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149735933	chr20:41184023-41184024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542562816	chr20:41184061-41184062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558967553	chr20:41184062-41184063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572019639	chr20:41184067-41184068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190797668	chr20:41184076-41184077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560650860	chr20:41184079-41184080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529783976	chr20:41184083-41184084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144566020	chr20:41184108-41184109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563176618	chr20:41184109-41184110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62203776	chr20:41184149-41184150	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs148449488	chr20:41184165-41184166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559351330	chr20:41184175-41184176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527694574	chr20:41184176-41184177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142588346	chr20:41184196-41184197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6130163	chr20:41184250-41184251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189165491	chr20:41184251-41184252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115594135	chr20:41184256-41184257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537957818	chr20:41184261-41184262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570262461	chr20:41184264-41184265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6030325	chr20:41184269-41184270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538819746	chr20:41184276-41184277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6016827	chr20:41184337-41184338	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs572601997	chr20:41184420-41184421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73906950	chr20:41184462-41184463	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554192269	chr20:41184464-41184465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142021780	chr20:41184501-41184502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555370530	chr20:41184517-41184518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543148042	chr20:41184534-41184535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115605272	chr20:41184545-41184546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116155630	chr20:41184595-41184596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545632861	chr20:41184641-41184642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74389826	chr20:41184643-41184644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574216610	chr20:41184666-41184667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62203777	chr20:41184715-41184716	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144205701	chr20:41184718-41184719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192216665	chr20:41184723-41184724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530099369	chr20:41184757-41184758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550309893	chr20:41184760-41184761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184542216	chr20:41184770-41184771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34376431	chr20:41184772-41184773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539234043	chr20:41184777-41184778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552538591	chr20:41184781-41184782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376707600	chr20:41184782-41184783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117532474	chr20:41184896-41184897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186862030	chr20:41185003-41185004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1157347	chr20:41185045-41185046	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs545656284	chr20:41185070-41185071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574110624	chr20:41185085-41185086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1157346	chr20:41185092-41185093	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41182600-41187400	Weak transcription	Right Atrium	heart
2	chr20:41184000-41185800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr20:41185800-41197800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:41187400-41187600	ZNF genes & repeats	Right Atrium	heart
5	chr20:41189800-41190600	Enhancers	Gastric	stomach
6	chr20:41190000-41190200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr20:41190000-41190400	Enhancers	Pancreas	Pancrea
8	chr20:41193800-41194000	Enhancers	Pancreas	Pancrea
9	chr20:41193800-41194600	Enhancers	Fetal Stomach	stomach
10	chr20:41194000-41194400	Enhancers	Fetal Muscle Leg	muscle
11	chr20:41196000-41196800	Enhancers	NHEK	skin
12	chr20:41200400-41204800	Enhancers	Pancreas	Pancrea
13	chr20:41201000-41202000	Enhancers	Small Intestine	intestine
14	chr20:41201000-41202200	Enhancers	Duodenum Mucosa	Duodenum
15	chr20:41201000-41202200	Enhancers	Gastric	stomach
16	chr20:41201000-41202200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr20:41202200-41206000	Weak transcription	Gastric	stomach
18	chr20:41203200-41203400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr20:41203400-41206000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr20:41204000-41204200	Enhancers	Duodenum Mucosa	Duodenum
21	chr20:41204000-41204200	Enhancers	Fetal Stomach	stomach
22	chr20:41204400-41205000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr20:41204800-41205200	Flanking Active TSS	Pancreas	Pancrea
24	chr20:41205000-41205200	Bivalent Enhancer	Fetal Stomach	stomach
25	chr20:41205000-41210000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr20:41205200-41207400	Enhancers	Pancreas	Pancrea
27	chr20:41206000-41206800	Enhancers	Gastric	stomach
28	chr20:41206000-41207400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr20:41206200-41206400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr20:41206800-41216200	Weak transcription	Gastric	stomach
31	chr20:41207400-41215400	Weak transcription	Pancreas	Pancrea
32	chr20:41207400-41218600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr20:41209800-41210800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr20:41210000-41210800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr20:41210400-41210800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr20:41210800-41212800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr20:41212800-41213600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr20:41213000-41213600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr20:41215400-41217800	Enhancers	Pancreas	Pancrea
40	chr20:41216200-41216400	Enhancers	Gastric	stomach
41	chr20:41216400-41216800	Weak transcription	Gastric	stomach
42	chr20:41217400-41218000	Enhancers	NHEK	skin
43	chr20:41217800-41221600	Weak transcription	Pancreas	Pancrea
44	chr20:41218600-41219200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr20:41219200-41240200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr20:41221600-41226200	Enhancers	Pancreas	Pancrea
47	chr20:41222600-41223600	Enhancers	Fetal Muscle Leg	muscle
48	chr20:41226200-41232400	Weak transcription	Pancreas	Pancrea
49	chr20:41227000-41227800	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr20:41227400-41228000	Enhancers	Primary monocytes fromperipheralblood	blood

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