Variant report

Variant	nsv1063513
Chromosome Location	chr20:41171076-41303205
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	BATF	chr20:41181966-41182424	GM12878	blood:	n/a	n/a
4	BATF	chr20:41182066-41182418	GM12878	blood:	n/a	n/a
5	BATF	chr20:41192599-41192856	GM12878	blood:	n/a	chr20:41192720-41192731
6	CEBPB	chr20:41201099-41202020	MCF-7	breast:	n/a	chr20:41201766-41201777 chr20:41201766-41201779
7	CEBPB	chr20:41218909-41219150	K562	blood:	n/a	chr20:41219078-41219089
8	CEBPB	chr20:41274989-41275199	HepG2	liver:	n/a	n/a
9	CEBPB	chr20:41201173-41201616	MCF-7	breast:	n/a	n/a
10	CEBPB	chr20:41218872-41219099	H1-hESC	embryonic stem cell:	n/a	chr20:41219078-41219089
11	CEBPB	chr20:41265532-41265732	HepG2	liver:	n/a	chr20:41265590-41265603 chr20:41265591-41265602
12	CEBPB	chr20:41297733-41297951	HepG2	liver:	n/a	chr20:41297799-41297810
13	CEBPB	chr20:41269498-41269701	HepG2	liver:	n/a	chr20:41269631-41269642
14	CEBPB	chr20:41251310-41251377	HepG2	liver:	n/a	n/a
15	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
16	CEBPB	chr20:41218900-41219249	HepG2	liver:	n/a	chr20:41219078-41219089
17	CEBPB	chr20:41218940-41219204	IMR90	lung:	n/a	chr20:41219078-41219089
18	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
19	CEBPB	chr20:41282814-41283026	HepG2	liver:	n/a	chr20:41282919-41282930
20	CEBPB	chr20:41203262-41203461	HepG2	liver:	n/a	chr20:41203427-41203438
21	CEBPB	chr20:41234470-41234614	K562	blood:	n/a	n/a
22	CEBPB	chr20:41203381-41203449	K562	blood:	n/a	chr20:41203427-41203438
23	CEBPB	chr20:41240638-41240690	HepG2	liver:	n/a	chr20:41240677-41240688
24	CEBPB	chr20:41279055-41279225	H1-hESC	embryonic stem cell:	n/a	chr20:41279114-41279125
25	CEBPB	chr20:41234364-41234717	HepG2	liver:	n/a	n/a
26	CEBPB	chr20:41218912-41219204	A549	lung:	n/a	chr20:41219078-41219089
27	CEBPB	chr20:41218705-41219269	MCF-7	breast:	n/a	chr20:41219078-41219089
28	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
29	CHD2	chr20:41182204-41182321	GM12878	blood:	n/a	n/a
30	CTCF	chr20:41178320-41178470	MCF-7	breast:	n/a	n/a
31	CTCF	chr20:41238800-41238950	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr20:41201861-41201974	MCF-7	breast:	n/a	chr20:41201931-41201940
33	CTCF	chr20:41238767-41239033	MCF-7	breast:	n/a	n/a
34	CTCF	chr20:41238760-41238910	MCF-7	breast:	n/a	n/a
35	CTCF	chr20:41249720-41249870	WI-38	lung:	n/a	n/a
36	CTCF	chr20:41201874-41201950	H1-hESC	embryonic stem cell:	n/a	chr20:41201931-41201940
37	CTCF	chr20:41218560-41218710	MCF-7	breast:	n/a	n/a
38	CTCF	chr20:41201879-41201956	MCF-7	breast:	n/a	chr20:41201931-41201940
39	CTCF	chr20:41195180-41195330	GM12875	blood:	n/a	n/a
40	CTCF	chr20:41218760-41218910	MCF-7	breast:	n/a	n/a
41	CTCF	chr20:41205882-41206179	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr20:41238840-41238990	Caco-2	colon:	n/a	n/a
43	CTCF	chr20:41238800-41238950	NB4	blood:	n/a	n/a
44	CTCF	chr20:41238813-41238946	HepG2	liver:	n/a	n/a
45	CTCF	chr20:41238881-41238962	HepG2	liver:	n/a	n/a
46	CTCF	chr20:41178304-41178389	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr20:41205937-41206102	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr20:41261016-41261073	GM10266	blood:	n/a	n/a
49	CTCF	chr20:41238859-41238976	MCF-7	breast:	n/a	n/a
50	CTCF	chr20:41296531-41296567	GM13977	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:41161976..41163501-chr20:41178008..41179846,2	MCF-7	breast:
2	chr20:41210269..41211939-chr20:41214857..41217644,2	MCF-7	breast:
3	chr20:41189320..41191294-chr20:41193549..41196029,2	MCF-7	breast:
4	chr20:41190947..41193604-chr20:41196031..41197655,2	MCF-7	breast:
5	chr20:41221842..41223467-chr20:41282056..41284683,2	MCF-7	breast:
6	chr20:41183922..41185722-chr20:41188691..41191209,2	K562	blood:
7	chr20:41183922..41185722-chr20:41188691..41191209,2	K562	blood:
8	chr20:41183351..41185462-chr20:41211169..41213368,2	MCF-7	breast:
9	chr20:41186370..41189085-chr20:41189896..41191987,2	MCF-7	breast:
10	chr20:41232529..41235268-chr20:41239023..41240669,2	MCF-7	breast:
11	chr20:41238748..41239268-chr20:41307296..41307807,2	MCF-7	breast:
12	chr20:41183351..41185462-chr20:41211169..41213368,2	MCF-7	breast:
13	chr20:41190947..41193604-chr20:41196031..41197655,2	MCF-7	breast:
14	chr1:115299122..115302084-chr20:41239351..41241193,2	MCF-7	breast:
15	chr20:41158587..41161005-chr20:41184135..41185897,2	MCF-7	breast:
16	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:
17	chr20:41221842..41223467-chr20:41282056..41284683,2	MCF-7	breast:
18	chr20:41219224..41221515-chr20:41224161..41226568,2	MCF-7	breast:
19	chr20:41232529..41235268-chr20:41239023..41240669,2	MCF-7	breast:
20	chr20:41186370..41189085-chr20:41189896..41191987,2	MCF-7	breast:
21	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:
22	chr20:41223845..41225575-chr20:41225576..41227086,2	MCF-7	breast:
23	chr20:41189320..41191294-chr20:41193549..41196029,2	MCF-7	breast:
24	chr20:41169178..41171278-chr20:41173910..41175582,2	MCF-7	breast:
25	chr20:41223845..41225575-chr20:41225576..41227086,2	MCF-7	breast:
26	chr20:41210269..41211939-chr20:41214857..41217644,2	MCF-7	breast:
27	chr20:41169178..41171278-chr20:41173910..41175582,2	MCF-7	breast:
28	chr20:41219224..41221515-chr20:41224161..41226568,2	MCF-7	breast:
29	chr1:115299061..115301144-chr20:41248782..41252439,3	MCF-7	breast:
30	chr1:115296501..115298139-chr20:41277950..41280016,2	MCF-7	breast:

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: 5238 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:5238 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536463634	chr20:41171077-41171078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556037320	chr20:41171145-41171146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6065504	chr20:41171199-41171200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs545015521	chr20:41171218-41171219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558414166	chr20:41171262-41171263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577640872	chr20:41171268-41171269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182052755	chr20:41171276-41171277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114959805	chr20:41171312-41171313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529326607	chr20:41171334-41171335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149440756	chr20:41171353-41171354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539011848	chr20:41171390-41171391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553911038	chr20:41171395-41171396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6102896	chr20:41171455-41171456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552137889	chr20:41171507-41171508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144836575	chr20:41171520-41171521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148569723	chr20:41171535-41171536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547384078	chr20:41171541-41171542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2224165	chr20:41171614-41171615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114466546	chr20:41171642-41171643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556214156	chr20:41171662-41171663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534606138	chr20:41171667-41171668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569784854	chr20:41171668-41171669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538422591	chr20:41171669-41171670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145452664	chr20:41171742-41171743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6102897	chr20:41171759-41171760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571973857	chr20:41171771-41171772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6072779	chr20:41171781-41171782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553836482	chr20:41171835-41171836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573978049	chr20:41171854-41171855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542797786	chr20:41171889-41171890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386814269	chr20:41171922-41171923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6065505	chr20:41171923-41171924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545591053	chr20:41171971-41171972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113543193	chr20:41171982-41171983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527950304	chr20:41172040-41172041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548104809	chr20:41172074-41172075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567190845	chr20:41172093-41172094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114116754	chr20:41172108-41172109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549639088	chr20:41172113-41172114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543104418	chr20:41172141-41172142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191438096	chr20:41172142-41172143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147286001	chr20:41172153-41172154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140838806	chr20:41172203-41172204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2867485	chr20:41172254-41172255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558944453	chr20:41172268-41172269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554840870	chr20:41172277-41172278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6102899	chr20:41172306-41172307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs6065506	chr20:41172352-41172353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs6072781	chr20:41172375-41172376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs144683884	chr20:41172382-41172383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Gastric cancer	22014070	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41160800-41173000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41173000-41174200	Enhancers	Pancreas	Pancrea
3	chr20:41173000-41174400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr20:41173600-41174200	Enhancers	Gastric	stomach
5	chr20:41174200-41178000	Weak transcription	Pancreas	Pancrea
6	chr20:41178200-41178400	Enhancers	Brain Germinal Matrix	brain
7	chr20:41178200-41179000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr20:41178400-41179200	Weak transcription	Brain Germinal Matrix	brain
9	chr20:41179200-41181000	Enhancers	Brain Germinal Matrix	brain
10	chr20:41181600-41182000	Enhancers	Duodenum Mucosa	Duodenum
11	chr20:41181800-41182200	Active TSS	GM12878-XiMat	blood
12	chr20:41182000-41182400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr20:41182000-41182600	Active TSS	Duodenum Mucosa	Duodenum
14	chr20:41182200-41182600	Flanking Active TSS	GM12878-XiMat	blood
15	chr20:41182200-41182800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr20:41182400-41182600	Enhancers	Right Atrium	heart
17	chr20:41182600-41187400	Weak transcription	Right Atrium	heart
18	chr20:41182800-41184000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr20:41184000-41185800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr20:41185800-41197800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr20:41187400-41187600	ZNF genes & repeats	Right Atrium	heart
22	chr20:41189800-41190600	Enhancers	Gastric	stomach
23	chr20:41190000-41190200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr20:41190000-41190400	Enhancers	Pancreas	Pancrea
25	chr20:41193800-41194000	Enhancers	Pancreas	Pancrea
26	chr20:41193800-41194600	Enhancers	Fetal Stomach	stomach
27	chr20:41194000-41194400	Enhancers	Fetal Muscle Leg	muscle
28	chr20:41196000-41196800	Enhancers	NHEK	skin
29	chr20:41200400-41204800	Enhancers	Pancreas	Pancrea
30	chr20:41201000-41202000	Enhancers	Small Intestine	intestine
31	chr20:41201000-41202200	Enhancers	Duodenum Mucosa	Duodenum
32	chr20:41201000-41202200	Enhancers	Gastric	stomach
33	chr20:41201000-41202200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr20:41202200-41206000	Weak transcription	Gastric	stomach
35	chr20:41203200-41203400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr20:41203400-41206000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr20:41204000-41204200	Enhancers	Duodenum Mucosa	Duodenum
38	chr20:41204000-41204200	Enhancers	Fetal Stomach	stomach
39	chr20:41204400-41205000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr20:41204800-41205200	Flanking Active TSS	Pancreas	Pancrea
41	chr20:41205000-41205200	Bivalent Enhancer	Fetal Stomach	stomach
42	chr20:41205000-41210000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr20:41205200-41207400	Enhancers	Pancreas	Pancrea
44	chr20:41206000-41206800	Enhancers	Gastric	stomach
45	chr20:41206000-41207400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr20:41206200-41206400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr20:41206800-41216200	Weak transcription	Gastric	stomach
48	chr20:41207400-41215400	Weak transcription	Pancreas	Pancrea
49	chr20:41207400-41218600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr20:41209800-41210800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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