Variant report

Variant	nsv1061076
Chromosome Location	chr20:29420340-29505893
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	BATF	chr20:29463964-29464153	GM12878	blood:	n/a	n/a
2	BCL11A	chr20:29447015-29447184	GM12878	blood:	n/a	n/a
3	BHLHE40	chr20:29462871-29462953	K562	blood:	n/a	n/a
4	CEBPB	chr20:29427828-29428050	IMR90	lung:	n/a	chr20:29427968-29427979 chr20:29427966-29427977
5	CEBPB	chr20:29483555-29483577	HepG2	liver:	n/a	chr20:29483559-29483570
6	CEBPB	chr20:29460480-29460723	K562	blood:	n/a	n/a
7	CEBPB	chr20:29427872-29428027	A549	lung:	n/a	chr20:29427968-29427979 chr20:29427966-29427977
8	CEBPB	chr20:29427843-29428034	HepG2	liver:	n/a	chr20:29427968-29427979 chr20:29427966-29427977
9	CEBPD	chr20:29460489-29460959	K562	blood:	n/a	n/a
10	CHD2	chr20:29462906-29463111	K562	blood:	n/a	n/a
11	CTCF	chr20:29468407-29468441	LNCaP	prostate:	n/a	n/a
12	CTCF	chr20:29493914-29493992	Lung_OC	lung:	n/a	n/a
13	CTCF	chr20:29450520-29450670	HAc	cerebellar:	n/a	n/a
14	CTCF	chr20:29454660-29454810	WI-38	lung:	n/a	n/a
15	CTCF	chr20:29456660-29456810	HA-sp	spinal cord:	n/a	n/a
16	CTCF	chr20:29439439-29439457	MCF-7	breast:	n/a	n/a
17	CTCF	chr20:29485579-29485624	GM13976	blood:	n/a	n/a
18	CTCF	chr20:29422717-29422768	ProgFib	skin:	n/a	n/a
19	CTCF	chr20:29491027-29491053	GM10266	blood:	n/a	n/a
20	CTCF	chr20:29447279-29447371	A549	lung:	n/a	n/a
21	CTCF	chr20:29423000-29423150	HPF	lung:	n/a	n/a
22	CTCF	chr20:29456660-29456810	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr20:29428805-29428829	A549	lung:	n/a	n/a
24	CTCF	chr20:29484140-29484290	BE2_C	brain:	n/a	n/a
25	CTCF	chr20:29429180-29429330	GM12867	blood:	n/a	n/a
26	CTCF	chr20:29435440-29435590	Caco-2	colon:	n/a	n/a
27	CTCF	chr20:29481538-29481600	Medullo	brain:	n/a	n/a
28	CTCF	chr20:29456700-29456850	HPF	lung:	n/a	n/a
29	CTCF	chr20:29445300-29445450	BE2_C	brain:	n/a	n/a
30	EBF1	chr20:29431795-29432177	GM12878	blood:	n/a	chr20:29431984-29431995 chr20:29431985-29431994
31	EBF1	chr20:29431828-29432163	GM12878	blood:	n/a	chr20:29431984-29431995 chr20:29431985-29431994
32	EBF1	chr20:29431860-29432116	GM12878	blood:	n/a	chr20:29431984-29431995 chr20:29431985-29431994
33	EP300	chr20:29462928-29462939	K562	blood:	n/a	n/a
34	EP300	chr20:29460624-29460749	K562	blood:	n/a	n/a
35	FOSL2	chr20:29451074-29451442	HepG2	liver:	n/a	n/a
36	GATA1	chr20:29460460-29460979	PBDE	blood:	n/a	chr20:29460683-29460692
37	GATA2	chr20:29494052-29494416	K562	blood:	n/a	n/a
38	GATA2	chr20:29460497-29460784	K562	blood:	n/a	chr20:29460683-29460692
39	GATA2	chr20:29493253-29493476	K562	blood:	n/a	n/a
40	HEY1	chr20:29462929-29463143	K562	blood:	n/a	n/a
41	HEY1	chr20:29462851-29463161	K562	blood:	n/a	n/a
42	JUND	chr20:29437248-29437423	HepG2	liver:	n/a	n/a
43	JUND	chr20:29469350-29469440	K562	blood:	n/a	chr20:29469377-29469389 chr20:29469384-29469392
44	MAFF	chr20:29423458-29423635	HepG2	liver:	n/a	n/a
45	MAFK	chr20:29423448-29423615	IMR90	lung:	n/a	n/a
46	MAFK	chr20:29479935-29479983	HepG2	liver:	n/a	n/a
47	MAFK	chr20:29423405-29423694	HepG2	liver:	n/a	n/a
48	MAX	chr20:29462851-29463004	K562	blood:	n/a	n/a
49	MAX	chr20:29462797-29463083	K562	blood:	n/a	n/a
50	MYC	chr20:29462921-29462945	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:29447179..29448698-chr9:130802407..130804996,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFB116-8	chr20:29472900-29473142	NONHSAT079262
2	lnc-DEFB116-8	chr20:29480007-29480099	NONHSAT079262
3	lnc-DEFB116-8	chr20:29480482-29480644	NONHSAT079262

Variant related genes	Relation type
ENSG00000204555	TF binding region

Extended variants
information (count: 827 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:827 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536180392	chr20:29425620-29425621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs367560784	chr20:29425627-29425628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs371355928	chr20:29425631-29425632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs6057220	chr20:29425633-29425634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs6057221	chr20:29425634-29425635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs113163490	chr20:29425637-29425638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs555965212	chr20:29425652-29425653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs572690148	chr20:29425660-29425661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs8122533	chr20:29425681-29425682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs535075284	chr20:29425691-29425692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs62200570	chr20:29425698-29425699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs558229322	chr20:29425711-29425712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs6119178	chr20:29425717-29425718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs370921536	chr20:29425723-29425724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs533445563	chr20:29425729-29425730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs79971961	chr20:29425762-29425763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs369226259	chr20:29425782-29425783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs76495215	chr20:29425804-29425805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs76987255	chr20:29425806-29425807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs79330053	chr20:29425809-29425810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs183887621	chr20:29425813-29425814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs200593844	chr20:29425819-29425820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs73345741	chr20:29425820-29425821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs77168351	chr20:29425827-29425828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs76904968	chr20:29425840-29425841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs573563396	chr20:29425848-29425849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs542520685	chr20:29425851-29425852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs559074513	chr20:29425856-29425857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs77712908	chr20:29425865-29425866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs6141243	chr20:29425878-29425879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs140478879	chr20:29425879-29425880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs112738111	chr20:29425891-29425892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs77849677	chr20:29425893-29425894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs145725456	chr20:29425895-29425896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs564975138	chr20:29425900-29425901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs78260332	chr20:29425915-29425916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs75075952	chr20:29425917-29425918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs78445820	chr20:29425939-29425940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs530547025	chr20:29425941-29425942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs550519815	chr20:29425995-29425996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs138192867	chr20:29426013-29426014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs374910617	chr20:29426027-29426028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs111736642	chr20:29426039-29426040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs374825514	chr20:29426062-29426063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs200566136	chr20:29426063-29426064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs112307797	chr20:29426067-29426068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs6141244	chr20:29426075-29426076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs200767117	chr20:29426085-29426086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs6141245	chr20:29426087-29426088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs112495157	chr20:29426105-29426106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Acute myeloid leukemia	20729466	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
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21806811	CNVD
Melanoma	21693616	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
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Oral cancer	21386901	CNVD
Gastric cancer	22014070	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Amyotrophic lateral sclerosis	20688871	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29425600-29426600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr20:29428600-29429000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:29430200-29431000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:29446800-29447600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:29459200-29461200	Enhancers	Dnd41	blood
6	chr20:29463000-29463800	Active TSS	K562	blood
7	chr20:29468800-29470400	Enhancers	Dnd41	blood
8	chr20:29468800-29470600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr20:29476400-29477200	Enhancers	Dnd41	blood
10	chr20:29476600-29477000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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