Variant report

Variant	nsv7915
Chromosome Location	chr6:68251408-68270835
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	chr6:68251426-68251964	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr6:68270047-68270243	K562	blood:	n/a	n/a
6	CEBPB	chr6:68252417-68252737	IMR90	lung:	n/a	chr6:68252565-68252576
7	CEBPB	chr6:68252483-68252740	HepG2	liver:	n/a	chr6:68252565-68252576
8	CEBPB	chr6:68252543-68252704	K562	blood:	n/a	chr6:68252565-68252576
9	CEBPB	chr6:68252469-68252626	H1-hESC	embryonic stem cell:	n/a	chr6:68252565-68252576
10	CHD2	chr6:68270056-68270205	K562	blood:	n/a	n/a
11	CUX1	chr6:68269013-68269169	K562	blood:	n/a	n/a
12	E2F4	chr6:68257817-68258005	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr6:68251364-68251864	Hela-S3	cervix:	n/a	chr6:68251364-68251378 chr6:68251629-68251643
14	GATA2	chr6:68268867-68269219	K562	blood:	n/a	n/a
15	GATA3	chr6:68254601-68254741	SH-SY5Y	brain:	n/a	n/a
16	JUN	chr6:68268730-68269122	K562	blood:	n/a	n/a
17	JUND	chr6:68270096-68270160	K562	blood:	n/a	n/a
18	JUND	chr6:68268985-68269133	K562	blood:	n/a	n/a
19	KAP1	chr6:68254725-68255127	K562	blood:	n/a	n/a
20	KAP1	chr6:68254552-68255328	HEK293	kidney:	n/a	n/a
21	KAP1	chr6:68254611-68255232	U2OS	brain:	n/a	n/a
22	MAFK	chr6:68265041-68265230	HepG2	liver:	n/a	n/a
23	MAX	chr6:68270037-68270192	K562	blood:	n/a	n/a
24	MAX	chr6:68270004-68270334	K562	blood:	n/a	n/a
25	MAX	chr6:68270004-68270347	K562	blood:	n/a	n/a
26	MYC	chr6:68270100-68270208	K562	blood:	n/a	n/a
27	POLR2A	chr6:68255287-68255295	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr6:68256529-68256653	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr6:68258071-68258110	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr6:68268901-68269133	K562	blood:	n/a	n/a
31	POLR2A	chr6:68268754-68268954	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr6:68252816-68252958	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:68269415-68269483	Gliobla	brain:	n/a	n/a
34	POLR2A	chr6:68258398-68258491	MCF10A-Er-Src	breast:	n/a	n/a
35	RCOR1	chr6:68268895-68269199	K562	blood:	n/a	n/a
36	RCOR1	chr6:68270160-68270168	K562	blood:	n/a	n/a
37	SETDB1	chr6:68254491-68255362	U2OS	brain:	n/a	n/a
38	STAT3	chr6:68254074-68254236	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr6:68262977-68262993	MCF10A-Er-Src	breast:	n/a	n/a
40	TAL1	chr6:68268835-68269166	K562	blood:	n/a	n/a
41	TBL1XR1	chr6:68270153-68270256	K562	blood:	n/a	n/a
42	TCF7L2	chr6:68261556-68261854	MCF-7	breast:	n/a	chr6:68261731-68261745
43	TCF7L2	chr6:68251526-68251798	Hela-S3	cervix:	n/a	n/a
44	TEAD4	chr6:68268762-68269257	K562	blood:	n/a	n/a
45	TEAD4	chr6:68268784-68269207	K562	blood:	n/a	n/a
46	USF1	chr6:68270009-68270386	K562	blood:	n/a	chr6:68270171-68270182
47	USF1	chr6:68260604-68260665	GM12878	blood:	n/a	n/a
48	USF1	chr6:68270100-68270266	HepG2	liver:	n/a	chr6:68270171-68270182
49	USF1	chr6:68270046-68270381	K562	blood:	n/a	chr6:68270171-68270182
50	USF2	chr6:68270164-68270228	Hela-S3	cervix:	n/a	chr6:68270171-68270182

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:68250130..68252164-chr6:68269615..68271748,2	MCF-7	breast:
2	chr6:68250130..68252164-chr6:68269615..68271748,2	MCF-7	breast:

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

Extended variants
information (count: 335 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568405017	chr6:68251428-68251429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113245573	chr6:68251489-68251490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544764140	chr6:68251491-68251492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149319144	chr6:68251515-68251516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373810789	chr6:68251516-68251517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145107579	chr6:68251566-68251567	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs544047258	chr6:68251576-68251577	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs564187651	chr6:68251609-68251610	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs553067735	chr6:68251613-68251614	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs370332104	chr6:68251635-68251636	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs572831502	chr6:68251658-68251659	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs541859555	chr6:68251703-68251704	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs144561905	chr6:68251747-68251748	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs148454475	chr6:68251780-68251781	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs12205461	chr6:68251799-68251800	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs377606766	chr6:68251819-68251820	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs142585281	chr6:68251867-68251868	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs12206848	chr6:68251903-68251904	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs146455961	chr6:68251908-68251909	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs182237968	chr6:68251910-68251911	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs60645711	chr6:68251913-68251914	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs114112250	chr6:68251920-68251921	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs531707312	chr6:68251929-68251930	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs528529508	chr6:68251942-68251943	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs550907215	chr6:68251949-68251950	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs115248140	chr6:68251966-68251967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539650025	chr6:68251973-68251974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12213821	chr6:68252008-68252009	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs113372436	chr6:68252012-68252013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186267133	chr6:68252049-68252050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374538204	chr6:68252066-68252067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554998379	chr6:68252072-68252073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367675125	chr6:68252079-68252080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368491245	chr6:68252109-68252110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139840699	chr6:68252138-68252139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116926228	chr6:68252143-68252144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190685853	chr6:68252145-68252146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560026758	chr6:68252158-68252159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183396813	chr6:68252172-68252173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527402912	chr6:68252184-68252185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560529753	chr6:68252274-68252275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143190989	chr6:68252290-68252291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78762180	chr6:68252297-68252298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78575385	chr6:68252325-68252326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571062980	chr6:68252345-68252346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146654941	chr6:68252391-68252392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551779853	chr6:68252411-68252412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144145706	chr6:68252439-68252440	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs201207635	chr6:68252456-68252457	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs140506812	chr6:68252457-68252458	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68251200-68252000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:68251800-68253000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:68252000-68252400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:68266200-68272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:68268600-68268800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:68268800-68269000	Enhancers	K562	blood
7	chr6:68269000-68270000	Weak transcription	K562	blood
8	chr6:68269400-68269600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:68270000-68270400	Flanking Active TSS	K562	blood
10	chr6:68270400-68274600	Weak transcription	K562	blood

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