Variant report

Variant	nsv586013
Chromosome Location	chr20:41178858-41243236
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	BATF	chr20:41182066-41182418	GM12878	blood:	n/a	n/a
3	BATF	chr20:41181966-41182424	GM12878	blood:	n/a	n/a
4	BATF	chr20:41192599-41192856	GM12878	blood:	n/a	chr20:41192720-41192731
5	CEBPB	chr20:41218912-41219204	A549	lung:	n/a	chr20:41219078-41219089
6	CEBPB	chr20:41218872-41219099	H1-hESC	embryonic stem cell:	n/a	chr20:41219078-41219089
7	CEBPB	chr20:41203262-41203461	HepG2	liver:	n/a	chr20:41203427-41203438
8	CEBPB	chr20:41201173-41201616	MCF-7	breast:	n/a	n/a
9	CEBPB	chr20:41218940-41219204	IMR90	lung:	n/a	chr20:41219078-41219089
10	CEBPB	chr20:41234470-41234614	K562	blood:	n/a	n/a
11	CEBPB	chr20:41218909-41219150	K562	blood:	n/a	chr20:41219078-41219089
12	CEBPB	chr20:41203381-41203449	K562	blood:	n/a	chr20:41203427-41203438
13	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
14	CEBPB	chr20:41201099-41202020	MCF-7	breast:	n/a	chr20:41201766-41201777 chr20:41201766-41201779
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	chr20:41234364-41234717	HepG2	liver:	n/a	n/a
17	CEBPB	chr20:41218705-41219269	MCF-7	breast:	n/a	chr20:41219078-41219089
18	CEBPB	chr20:41240638-41240690	HepG2	liver:	n/a	chr20:41240677-41240688
19	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
20	CEBPB	chr20:41218900-41219249	HepG2	liver:	n/a	chr20:41219078-41219089
21	CHD2	chr20:41182204-41182321	GM12878	blood:	n/a	n/a
22	CTCF	chr20:41201867-41201968	MCF-7	breast:	n/a	chr20:41201931-41201940
23	CTCF	chr20:41221060-41221210	GM12868	blood:	n/a	n/a
24	CTCF	chr20:41238836-41239000	MCF-7	breast:	n/a	n/a
25	CTCF	chr20:41200920-41201070	MCF-7	breast:	n/a	n/a
26	CTCF	chr20:41205937-41206102	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr20:41223860-41224010	GM12873	blood:	n/a	n/a
28	CTCF	chr20:41238813-41238946	HepG2	liver:	n/a	n/a
29	CTCF	chr20:41238800-41238950	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr20:41201879-41201956	MCF-7	breast:	n/a	chr20:41201931-41201940
31	CTCF	chr20:41205876-41206105	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr20:41238800-41238950	NB4	blood:	n/a	n/a
33	CTCF	chr20:41218660-41218810	HRE	kidney:	n/a	n/a
34	CTCF	chr20:41205882-41206179	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr20:41201861-41201974	MCF-7	breast:	n/a	chr20:41201931-41201940
36	CTCF	chr20:41218700-41218850	Caco-2	colon:	n/a	n/a
37	CTCF	chr20:41218760-41218910	MCF-7	breast:	n/a	n/a
38	CTCF	chr20:41238840-41238990	Caco-2	colon:	n/a	n/a
39	CTCF	chr20:41238760-41238910	MCF-7	breast:	n/a	n/a
40	CTCF	chr20:41238877-41238939	K562	blood:	n/a	n/a
41	CTCF	chr20:41238833-41238962	K562	blood:	n/a	n/a
42	CTCF	chr20:41218560-41218710	MCF-7	breast:	n/a	n/a
43	CTCF	chr20:41238859-41238976	MCF-7	breast:	n/a	n/a
44	CTCF	chr20:41238680-41238830	NHEK	skin:	n/a	n/a
45	CTCF	chr20:41205980-41206130	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr20:41229986-41230013	GM10248	blood:	n/a	n/a
47	CTCF	chr20:41198747-41198830	MCF-7	breast:	n/a	n/a
48	CTCF	chr20:41198757-41198795	MCF-7	breast:	n/a	n/a
49	CTCF	chr20:41195180-41195330	GM12875	blood:	n/a	n/a
50	CTCF	chr20:41201800-41201950	WERI-Rb-1	eye:	n/a	chr20:41201931-41201940

No.	Distal block	Cell Line	Cell type
1	chr20:41161976..41163501-chr20:41178008..41179846,2	MCF-7	breast:
2	chr20:41183351..41185462-chr20:41211169..41213368,2	MCF-7	breast:
3	chr20:41158587..41161005-chr20:41184135..41185897,2	MCF-7	breast:
4	chr1:115299122..115302084-chr20:41239351..41241193,2	MCF-7	breast:
5	chr20:41190947..41193604-chr20:41196031..41197655,2	MCF-7	breast:
6	chr20:41232529..41235268-chr20:41239023..41240669,2	MCF-7	breast:
7	chr20:41189320..41191294-chr20:41193549..41196029,2	MCF-7	breast:
8	chr20:41232529..41235268-chr20:41239023..41240669,2	MCF-7	breast:
9	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:
10	chr20:41223845..41225575-chr20:41225576..41227086,2	MCF-7	breast:
11	chr20:41219224..41221515-chr20:41224161..41226568,2	MCF-7	breast:
12	chr20:41210269..41211939-chr20:41214857..41217644,2	MCF-7	breast:
13	chr20:41189320..41191294-chr20:41193549..41196029,2	MCF-7	breast:
14	chr20:41183922..41185722-chr20:41188691..41191209,2	K562	blood:
15	chr20:41183922..41185722-chr20:41188691..41191209,2	K562	blood:
16	chr20:41223845..41225575-chr20:41225576..41227086,2	MCF-7	breast:
17	chr20:41190947..41193604-chr20:41196031..41197655,2	MCF-7	breast:
18	chr20:41221842..41223467-chr20:41282056..41284683,2	MCF-7	breast:
19	chr20:41186370..41189085-chr20:41189896..41191987,2	MCF-7	breast:
20	chr20:41238748..41239268-chr20:41307296..41307807,2	MCF-7	breast:
21	chr20:41186370..41189085-chr20:41189896..41191987,2	MCF-7	breast:
22	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:
23	chr20:41210269..41211939-chr20:41214857..41217644,2	MCF-7	breast:
24	chr20:41219224..41221515-chr20:41224161..41226568,2	MCF-7	breast:
25	chr20:41183351..41185462-chr20:41211169..41213368,2	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: 2598 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2598 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4563302	chr20:41178858-41178859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs532032716	chr20:41178866-41178867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551356897	chr20:41178883-41178884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182649182	chr20:41178889-41178890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559540960	chr20:41178905-41178906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17736235	chr20:41178925-41178926	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548494891	chr20:41178964-41178965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369575977	chr20:41178968-41178969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146898039	chr20:41179059-41179060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530135070	chr20:41179090-41179091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544439791	chr20:41179092-41179093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13040647	chr20:41179116-41179117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs115928297	chr20:41179122-41179123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539172590	chr20:41179152-41179153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11697127	chr20:41179163-41179164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139291196	chr20:41179167-41179168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191226239	chr20:41179265-41179266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534876911	chr20:41179297-41179298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555258916	chr20:41179302-41179303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143200389	chr20:41179321-41179322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536653480	chr20:41179323-41179324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182966447	chr20:41179328-41179329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs16987035	chr20:41179343-41179344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150867271	chr20:41179416-41179417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377488583	chr20:41179445-41179446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139308870	chr20:41179466-41179467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188409072	chr20:41179490-41179491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13045506	chr20:41179519-41179520	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192035152	chr20:41179684-41179685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548930972	chr20:41179693-41179694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6102904	chr20:41179698-41179699	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs550882377	chr20:41179799-41179800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563705240	chr20:41179813-41179814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532378268	chr20:41179816-41179817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183077737	chr20:41179824-41179825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17809327	chr20:41179841-41179842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534726994	chr20:41179842-41179843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs80136838	chr20:41179863-41179864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187714461	chr20:41179897-41179898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568312434	chr20:41179916-41179917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34642115	chr20:41179945-41179946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115508860	chr20:41179965-41179966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115971623	chr20:41179971-41179972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576459061	chr20:41179974-41179975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546971053	chr20:41179985-41179986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149581577	chr20:41180026-41180027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553049300	chr20:41180034-41180035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572813156	chr20:41180046-41180047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144243130	chr20:41180123-41180124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117536963	chr20:41180146-41180147	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41178200-41179000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr20:41178400-41179200	Weak transcription	Brain Germinal Matrix	brain
3	chr20:41179200-41181000	Enhancers	Brain Germinal Matrix	brain
4	chr20:41181600-41182000	Enhancers	Duodenum Mucosa	Duodenum
5	chr20:41181800-41182200	Active TSS	GM12878-XiMat	blood
6	chr20:41182000-41182400	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr20:41182000-41182600	Active TSS	Duodenum Mucosa	Duodenum
8	chr20:41182200-41182600	Flanking Active TSS	GM12878-XiMat	blood
9	chr20:41182200-41182800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr20:41182400-41182600	Enhancers	Right Atrium	heart
11	chr20:41182600-41187400	Weak transcription	Right Atrium	heart
12	chr20:41182800-41184000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr20:41184000-41185800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr20:41185800-41197800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr20:41187400-41187600	ZNF genes & repeats	Right Atrium	heart
16	chr20:41189800-41190600	Enhancers	Gastric	stomach
17	chr20:41190000-41190200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr20:41190000-41190400	Enhancers	Pancreas	Pancrea
19	chr20:41193800-41194000	Enhancers	Pancreas	Pancrea
20	chr20:41193800-41194600	Enhancers	Fetal Stomach	stomach
21	chr20:41194000-41194400	Enhancers	Fetal Muscle Leg	muscle
22	chr20:41196000-41196800	Enhancers	NHEK	skin
23	chr20:41200400-41204800	Enhancers	Pancreas	Pancrea
24	chr20:41201000-41202000	Enhancers	Small Intestine	intestine
25	chr20:41201000-41202200	Enhancers	Duodenum Mucosa	Duodenum
26	chr20:41201000-41202200	Enhancers	Gastric	stomach
27	chr20:41201000-41202200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr20:41202200-41206000	Weak transcription	Gastric	stomach
29	chr20:41203200-41203400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr20:41203400-41206000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr20:41204000-41204200	Enhancers	Duodenum Mucosa	Duodenum
32	chr20:41204000-41204200	Enhancers	Fetal Stomach	stomach
33	chr20:41204400-41205000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr20:41204800-41205200	Flanking Active TSS	Pancreas	Pancrea
35	chr20:41205000-41205200	Bivalent Enhancer	Fetal Stomach	stomach
36	chr20:41205000-41210000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr20:41205200-41207400	Enhancers	Pancreas	Pancrea
38	chr20:41206000-41206800	Enhancers	Gastric	stomach
39	chr20:41206000-41207400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr20:41206200-41206400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr20:41206800-41216200	Weak transcription	Gastric	stomach
42	chr20:41207400-41215400	Weak transcription	Pancreas	Pancrea
43	chr20:41207400-41218600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr20:41209800-41210800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr20:41210000-41210800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr20:41210400-41210800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr20:41210800-41212800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr20:41212800-41213600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr20:41213000-41213600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr20:41215400-41217800	Enhancers	Pancreas	Pancrea

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