Variant report

Variant	nsv886111
Chromosome Location	chr6:68237791-68290302
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	ATF1	chr6:68268936-68269129	K562	blood:	n/a	n/a
2	ATF3	chr6:68270050-68270268	K562	blood:	n/a	n/a
3	BHLHE40	chr6:68269989-68270319	K562	blood:	n/a	n/a
4	CEBPB	chr6:68270047-68270243	K562	blood:	n/a	n/a
5	CEBPB	chr6:68277758-68278045	K562	blood:	n/a	n/a
6	CEBPB	chr6:68251426-68251964	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr6:68252469-68252626	H1-hESC	embryonic stem cell:	n/a	chr6:68252565-68252576
8	CEBPB	chr6:68252483-68252740	HepG2	liver:	n/a	chr6:68252565-68252576
9	CEBPB	chr6:68252417-68252737	IMR90	lung:	n/a	chr6:68252565-68252576
10	CEBPB	chr6:68252543-68252704	K562	blood:	n/a	chr6:68252565-68252576
11	CHD2	chr6:68270056-68270205	K562	blood:	n/a	n/a
12	CTCF	chr6:68247340-68247490	HEK293	kidney:	n/a	n/a
13	CTCF	chr6:68274465-68274493	LNCaP	prostate:	n/a	n/a
14	CTCF	chr6:68243213-68243224	LNCaP	prostate:	n/a	n/a
15	CTCF	chr6:68247280-68247430	WERI-Rb-1	eye:	n/a	n/a
16	CUX1	chr6:68269013-68269169	K562	blood:	n/a	n/a
17	E2F4	chr6:68257817-68258005	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr6:68279512-68279597	MCF10A-Er-Src	breast:	n/a	n/a
19	EP300	chr6:68251364-68251864	Hela-S3	cervix:	n/a	chr6:68251364-68251378 chr6:68251629-68251643
20	EP300	chr6:68277885-68277912	K562	blood:	n/a	n/a
21	GATA2	chr6:68268867-68269219	K562	blood:	n/a	n/a
22	GATA3	chr6:68254601-68254741	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr6:68273540-68273881	MCF-7	breast:	n/a	n/a
24	JUN	chr6:68268730-68269122	K562	blood:	n/a	n/a
25	JUND	chr6:68270096-68270160	K562	blood:	n/a	n/a
26	JUND	chr6:68268985-68269133	K562	blood:	n/a	n/a
27	KAP1	chr6:68247921-68248104	K562	blood:	n/a	n/a
28	KAP1	chr6:68254552-68255328	HEK293	kidney:	n/a	n/a
29	KAP1	chr6:68254725-68255127	K562	blood:	n/a	n/a
30	KAP1	chr6:68254611-68255232	U2OS	brain:	n/a	n/a
31	MAFF	chr6:68250442-68250732	HepG2	liver:	n/a	chr6:68250579-68250597
32	MAFK	chr6:68250428-68250741	HepG2	liver:	n/a	chr6:68250580-68250595
33	MAFK	chr6:68250421-68250703	HepG2	liver:	n/a	chr6:68250580-68250595
34	MAFK	chr6:68250467-68250691	IMR90	lung:	n/a	chr6:68250580-68250595
35	MAFK	chr6:68277088-68277099	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAFK	chr6:68265041-68265230	HepG2	liver:	n/a	n/a
37	MAX	chr6:68270037-68270192	K562	blood:	n/a	n/a
38	MAX	chr6:68270004-68270334	K562	blood:	n/a	n/a
39	MAX	chr6:68270004-68270347	K562	blood:	n/a	n/a
40	MYC	chr6:68270100-68270208	K562	blood:	n/a	n/a
41	POLR2A	chr6:68276853-68276879	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr6:68272862-68272993	MCF-7	breast:	n/a	n/a
43	POLR2A	chr6:68252816-68252958	GM12878	blood:	n/a	n/a
44	POLR2A	chr6:68258071-68258110	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr6:68255287-68255295	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr6:68238934-68238954	Gliobla	brain:	n/a	n/a
47	POLR2A	chr6:68268901-68269133	K562	blood:	n/a	n/a
48	POLR2A	chr6:68256529-68256653	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr6:68268754-68268954	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr6:68258398-68258491	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:68250130..68252164-chr6:68269615..68271748,2	MCF-7	breast:
2	chr6:68250130..68252164-chr6:68269615..68271748,2	MCF-7	breast:
3	chr6:68232238..68234249-chr6:68236363..68239045,2	K562	blood:
4	chr6:68238430..68239410-chr8:111072142..111072850,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-280P	TF binding region

Extended variants
information (count: 640 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2028958	chr6:68237791-68237792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575154100	chr6:68237823-68237824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544031441	chr6:68237840-68237841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557249341	chr6:68237850-68237851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577311462	chr6:68237853-68237854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545970198	chr6:68237881-68237882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188916090	chr6:68237882-68237883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192401508	chr6:68237937-68237938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528469880	chr6:68237948-68237949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568567902	chr6:68237997-68237998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541791783	chr6:68238050-68238051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565873941	chr6:68238070-68238071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184254362	chr6:68238097-68238098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539733979	chr6:68238110-68238111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74683822	chr6:68238112-68238113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558133361	chr6:68238151-68238152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371307021	chr6:68238297-68238298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142144608	chr6:68238298-68238299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149002643	chr6:68238321-68238322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565754670	chr6:68238331-68238332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112332559	chr6:68238369-68238370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111776388	chr6:68238410-68238411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537059151	chr6:68238418-68238419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568801172	chr6:68238434-68238435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537339320	chr6:68238513-68238514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576087288	chr6:68238537-68238538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146353665	chr6:68238559-68238560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376140791	chr6:68238577-68238578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543478491	chr6:68238630-68238631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191853028	chr6:68238649-68238650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555418452	chr6:68238684-68238685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9363767	chr6:68238706-68238707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541127276	chr6:68238718-68238719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114662520	chr6:68238774-68238775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559651921	chr6:68238777-68238778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572965587	chr6:68238786-68238787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533617641	chr6:68238815-68238816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs541855275	chr6:68238888-68238889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs531318120	chr6:68238924-68238925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs139631768	chr6:68238953-68238954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs543362068	chr6:68238955-68238956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs11965586	chr6:68239051-68239052	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs75871547	chr6:68239178-68239179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs552317692	chr6:68239205-68239206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs144276307	chr6:68239215-68239216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs3905221	chr6:68239224-68239225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs528174808	chr6:68239226-68239227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs548251797	chr6:68239227-68239228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs568050162	chr6:68239243-68239244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs565931877	chr6:68239259-68239260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68236400-68238800	Weak transcription	Pancreas	Pancrea
2	chr6:68238800-68239000	ZNF genes & repeats	Pancreas	Pancrea
3	chr6:68238800-68239400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:68250400-68251200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:68251200-68252000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:68251800-68253000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:68252000-68252400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:68266200-68272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:68268600-68268800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:68268800-68269000	Enhancers	K562	blood
11	chr6:68269000-68270000	Weak transcription	K562	blood
12	chr6:68269400-68269600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:68270000-68270400	Flanking Active TSS	K562	blood
14	chr6:68270400-68274600	Weak transcription	K562	blood
15	chr6:68272800-68273000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:68273000-68273200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:68274600-68275000	Enhancers	K562	blood
18	chr6:68284800-68285200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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