Variant report

Variant	nsv586017
Chromosome Location	chr20:41182311-41261444
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	chr20:41181966-41182424	GM12878	blood:	n/a	n/a
3	BATF	chr20:41182066-41182418	GM12878	blood:	n/a	n/a
4	BATF	chr20:41192599-41192856	GM12878	blood:	n/a	chr20:41192720-41192731
5	CEBPB	chr20:41251310-41251377	HepG2	liver:	n/a	n/a
6	CEBPB	chr20:41240638-41240690	HepG2	liver:	n/a	chr20:41240677-41240688
7	CEBPB	chr20:41218872-41219099	H1-hESC	embryonic stem cell:	n/a	chr20:41219078-41219089
8	CEBPB	chr20:41218900-41219249	HepG2	liver:	n/a	chr20:41219078-41219089
9	CEBPB	chr20:41234470-41234614	K562	blood:	n/a	n/a
10	CEBPB	chr20:41218705-41219269	MCF-7	breast:	n/a	chr20:41219078-41219089
11	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
12	CEBPB	chr20:41218912-41219204	A549	lung:	n/a	chr20:41219078-41219089
13	CEBPB	chr20:41234364-41234717	HepG2	liver:	n/a	n/a
14	CEBPB	chr20:41218940-41219204	IMR90	lung:	n/a	chr20:41219078-41219089
15	CEBPB	chr20:41203381-41203449	K562	blood:	n/a	chr20:41203427-41203438
16	CEBPB	chr20:41218909-41219150	K562	blood:	n/a	chr20:41219078-41219089
17	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
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	chr20:41201099-41202020	MCF-7	breast:	n/a	chr20:41201766-41201777 chr20:41201766-41201779
20	CEBPB	chr20:41203262-41203461	HepG2	liver:	n/a	chr20:41203427-41203438
21	CEBPB	chr20:41201173-41201616	MCF-7	breast:	n/a	n/a
22	CHD2	chr20:41182204-41182321	GM12878	blood:	n/a	n/a
23	CTCF	chr20:41238800-41238950	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr20:41218760-41218910	MCF-7	breast:	n/a	n/a
25	CTCF	chr20:41238740-41238890	HEK293	kidney:	n/a	n/a
26	CTCF	chr20:41218580-41218730	GM12871	blood:	n/a	n/a
27	CTCF	chr20:41238767-41239033	MCF-7	breast:	n/a	n/a
28	CTCF	chr20:41201800-41201950	WERI-Rb-1	eye:	n/a	chr20:41201931-41201940
29	CTCF	chr20:41251400-41251550	GM12866	blood:	n/a	n/a
30	CTCF	chr20:41238800-41238950	NB4	blood:	n/a	n/a
31	CTCF	chr20:41200920-41201070	MCF-7	breast:	n/a	n/a
32	CTCF	chr20:41238833-41238962	K562	blood:	n/a	n/a
33	CTCF	chr20:41238800-41238950	GM06990	blood:	n/a	n/a
34	CTCF	chr20:41198757-41198795	MCF-7	breast:	n/a	n/a
35	CTCF	chr20:41238836-41239000	MCF-7	breast:	n/a	n/a
36	CTCF	chr20:41249720-41249870	WI-38	lung:	n/a	n/a
37	CTCF	chr20:41201861-41201974	MCF-7	breast:	n/a	chr20:41201931-41201940
38	CTCF	chr20:41238680-41238830	NHEK	skin:	n/a	n/a
39	CTCF	chr20:41195180-41195330	GM12875	blood:	n/a	n/a
40	CTCF	chr20:41238652-41239034	MCF-7	breast:	n/a	n/a
41	CTCF	chr20:41221060-41221210	GM12868	blood:	n/a	n/a
42	CTCF	chr20:41198747-41198830	MCF-7	breast:	n/a	n/a
43	CTCF	chr20:41218560-41218710	MCF-7	breast:	n/a	n/a
44	CTCF	chr20:41238760-41238910	MCF-7	breast:	n/a	n/a
45	CTCF	chr20:41261016-41261073	GM10266	blood:	n/a	n/a
46	CTCF	chr20:41238813-41238946	HepG2	liver:	n/a	n/a
47	CTCF	chr20:41201867-41201968	MCF-7	breast:	n/a	chr20:41201931-41201940
48	CTCF	chr20:41238881-41238962	HepG2	liver:	n/a	n/a
49	CTCF	chr20:41205980-41206130	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr20:41238859-41238976	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:41232529..41235268-chr20:41239023..41240669,2	MCF-7	breast:
2	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:
3	chr20:41190947..41193604-chr20:41196031..41197655,2	MCF-7	breast:
4	chr20:41219224..41221515-chr20:41224161..41226568,2	MCF-7	breast:
5	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:
6	chr1:115299122..115302084-chr20:41239351..41241193,2	MCF-7	breast:
7	chr20:41232529..41235268-chr20:41239023..41240669,2	MCF-7	breast:
8	chr20:41186370..41189085-chr20:41189896..41191987,2	MCF-7	breast:
9	chr20:41219224..41221515-chr20:41224161..41226568,2	MCF-7	breast:
10	chr20:41189320..41191294-chr20:41193549..41196029,2	MCF-7	breast:
11	chr20:41223845..41225575-chr20:41225576..41227086,2	MCF-7	breast:
12	chr20:41210269..41211939-chr20:41214857..41217644,2	MCF-7	breast:
13	chr20:41183351..41185462-chr20:41211169..41213368,2	MCF-7	breast:
14	chr20:41158587..41161005-chr20:41184135..41185897,2	MCF-7	breast:
15	chr20:41190947..41193604-chr20:41196031..41197655,2	MCF-7	breast:
16	chr20:41189320..41191294-chr20:41193549..41196029,2	MCF-7	breast:
17	chr20:41210269..41211939-chr20:41214857..41217644,2	MCF-7	breast:
18	chr20:41223845..41225575-chr20:41225576..41227086,2	MCF-7	breast:
19	chr20:41238748..41239268-chr20:41307296..41307807,2	MCF-7	breast:
20	chr20:41183922..41185722-chr20:41188691..41191209,2	K562	blood:
21	chr1:115299061..115301144-chr20:41248782..41252439,3	MCF-7	breast:
22	chr20:41183922..41185722-chr20:41188691..41191209,2	K562	blood:
23	chr20:41183351..41185462-chr20:41211169..41213368,2	MCF-7	breast:
24	chr20:41186370..41189085-chr20:41189896..41191987,2	MCF-7	breast:
25	chr20:41221842..41223467-chr20:41282056..41284683,2	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: 3103 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3103 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6016824	chr20:41182311-41182312	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190727544	chr20:41182315-41182316	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs538202613	chr20:41182364-41182365	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs150635998	chr20:41182378-41182379	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs6130161	chr20:41182434-41182435	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs578009607	chr20:41182527-41182528	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs6102906	chr20:41182530-41182531	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs529577400	chr20:41182555-41182556	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs540366760	chr20:41182556-41182557	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs377662662	chr20:41182603-41182604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199506059	chr20:41182607-41182608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62203775	chr20:41182612-41182613	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs180982521	chr20:41182635-41182636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543371189	chr20:41182664-41182665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563148421	chr20:41182711-41182712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79678601	chr20:41182744-41182745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536141659	chr20:41182764-41182765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551317289	chr20:41182765-41182766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185561544	chr20:41182771-41182772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117570221	chr20:41182779-41182780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190270121	chr20:41182782-41182783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373599873	chr20:41182803-41182804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182854176	chr20:41182843-41182844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567160936	chr20:41182846-41182847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377239609	chr20:41182916-41182917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549677536	chr20:41182918-41182919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35344193	chr20:41182931-41182932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569571782	chr20:41182969-41182970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568807918	chr20:41182991-41182992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558177966	chr20:41182997-41182998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2224169	chr20:41183026-41183027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534336237	chr20:41183027-41183028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187505349	chr20:41183143-41183144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6016825	chr20:41183152-41183153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs527266362	chr20:41183204-41183205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543210266	chr20:41183301-41183302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556906281	chr20:41183311-41183312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59018358	chr20:41183325-41183326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111371781	chr20:41183337-41183338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545377259	chr20:41183344-41183345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564937659	chr20:41183389-41183390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4810358	chr20:41183424-41183425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs541139723	chr20:41183428-41183429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6130162	chr20:41183456-41183457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549629316	chr20:41183499-41183500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549516147	chr20:41183515-41183516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35399513	chr20:41183566-41183567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs139982044	chr20:41183578-41183579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116321317	chr20:41183635-41183636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571642504	chr20:41183659-41183660	Weak transcription	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41182000-41182400	Enhancers	Duodenum Smooth Muscle	Duodenum
2	chr20:41182000-41182600	Active TSS	Duodenum Mucosa	Duodenum
3	chr20:41182200-41182600	Flanking Active TSS	GM12878-XiMat	blood
4	chr20:41182200-41182800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr20:41182400-41182600	Enhancers	Right Atrium	heart
6	chr20:41182600-41187400	Weak transcription	Right Atrium	heart
7	chr20:41182800-41184000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr20:41184000-41185800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr20:41185800-41197800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr20:41187400-41187600	ZNF genes & repeats	Right Atrium	heart
11	chr20:41189800-41190600	Enhancers	Gastric	stomach
12	chr20:41190000-41190200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr20:41190000-41190400	Enhancers	Pancreas	Pancrea
14	chr20:41193800-41194000	Enhancers	Pancreas	Pancrea
15	chr20:41193800-41194600	Enhancers	Fetal Stomach	stomach
16	chr20:41194000-41194400	Enhancers	Fetal Muscle Leg	muscle
17	chr20:41196000-41196800	Enhancers	NHEK	skin
18	chr20:41200400-41204800	Enhancers	Pancreas	Pancrea
19	chr20:41201000-41202000	Enhancers	Small Intestine	intestine
20	chr20:41201000-41202200	Enhancers	Duodenum Mucosa	Duodenum
21	chr20:41201000-41202200	Enhancers	Gastric	stomach
22	chr20:41201000-41202200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr20:41202200-41206000	Weak transcription	Gastric	stomach
24	chr20:41203200-41203400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr20:41203400-41206000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr20:41204000-41204200	Enhancers	Duodenum Mucosa	Duodenum
27	chr20:41204000-41204200	Enhancers	Fetal Stomach	stomach
28	chr20:41204400-41205000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr20:41204800-41205200	Flanking Active TSS	Pancreas	Pancrea
30	chr20:41205000-41205200	Bivalent Enhancer	Fetal Stomach	stomach
31	chr20:41205000-41210000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr20:41205200-41207400	Enhancers	Pancreas	Pancrea
33	chr20:41206000-41206800	Enhancers	Gastric	stomach
34	chr20:41206000-41207400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr20:41206200-41206400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr20:41206800-41216200	Weak transcription	Gastric	stomach
37	chr20:41207400-41215400	Weak transcription	Pancreas	Pancrea
38	chr20:41207400-41218600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr20:41209800-41210800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr20:41210000-41210800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr20:41210400-41210800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr20:41210800-41212800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr20:41212800-41213600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr20:41213000-41213600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr20:41215400-41217800	Enhancers	Pancreas	Pancrea
46	chr20:41216200-41216400	Enhancers	Gastric	stomach
47	chr20:41216400-41216800	Weak transcription	Gastric	stomach
48	chr20:41217400-41218000	Enhancers	NHEK	skin
49	chr20:41217800-41221600	Weak transcription	Pancreas	Pancrea
50	chr20:41218600-41219200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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