Variant report

Variant	nsv886090
Chromosome Location	chr6:67775437-67895080
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	ARID3A	chr6:67776313-67776646	HepG2	liver:	n/a	n/a
2	ATF1	chr6:67846788-67846972	K562	blood:	n/a	n/a
3	ATF1	chr6:67894213-67894698	K562	blood:	n/a	n/a
4	BACH1	chr6:67885030-67885201	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr6:67837104-67837218	HepG2	liver:	n/a	n/a
6	BHLHE40	chr6:67776366-67776512	K562	blood:	n/a	n/a
7	CBX3	chr6:67776315-67776639	K562	blood:	n/a	n/a
8	CBX3	chr6:67776351-67776637	K562	blood:	n/a	n/a
9	CBX3	chr6:67870745-67871050	K562	blood:	n/a	n/a
10	CBX3	chr6:67870690-67871098	K562	blood:	n/a	n/a
11	CCNT2	chr6:67831789-67832133	K562	blood:	n/a	n/a
12	CEBPB	chr6:67777528-67777641	HepG2	liver:	n/a	n/a
13	CEBPB	chr6:67870401-67870473	H1-hESC	embryonic stem cell:	n/a	chr6:67870454-67870465
14	CEBPB	chr6:67853350-67853969	HepG2	liver:	n/a	chr6:67853787-67853798
15	CEBPB	chr6:67812692-67813045	K562	blood:	n/a	chr6:67812853-67812864
16	CEBPB	chr6:67795968-67796230	K562	blood:	n/a	chr6:67796118-67796129
17	CEBPB	chr6:67795911-67796353	MCF-7	breast:	n/a	chr6:67796118-67796129
18	CEBPB	chr6:67812673-67813004	IMR90	lung:	n/a	chr6:67812853-67812864
19	CEBPB	chr6:67812669-67813026	HepG2	liver:	n/a	chr6:67812853-67812864
20	CEBPB	chr6:67812687-67812968	A549	lung:	n/a	chr6:67812853-67812864
21	CEBPB	chr6:67812684-67812993	H1-hESC	embryonic stem cell:	n/a	chr6:67812853-67812864
22	CEBPB	chr6:67853614-67853969	A549	lung:	n/a	chr6:67853787-67853798
23	CEBPB	chr6:67876297-67876456	HepG2	liver:	n/a	chr6:67876376-67876387 chr6:67876374-67876387 chr6:67876376-67876385
24	CEBPB	chr6:67812682-67812999	Hela-S3	cervix:	n/a	chr6:67812853-67812864
25	CEBPB	chr6:67839401-67839432	K562	blood:	n/a	n/a
26	CEBPB	chr6:67795957-67796343	MCF-7	breast:	n/a	chr6:67796118-67796129
27	CEBPB	chr6:67870337-67870600	A549	lung:	n/a	chr6:67870454-67870465
28	CEBPB	chr6:67870412-67870621	K562	blood:	n/a	chr6:67870454-67870465
29	CEBPB	chr6:67870400-67870606	HepG2	liver:	n/a	chr6:67870454-67870465
30	CEBPB	chr6:67853451-67853980	K562	blood:	n/a	chr6:67853787-67853798
31	CEBPB	chr6:67875457-67875569	K562	blood:	n/a	n/a
32	CEBPB	chr6:67886600-67886965	K562	blood:	n/a	chr6:67886769-67886780
33	CEBPB	chr6:67886602-67886949	HepG2	liver:	n/a	chr6:67886769-67886780
34	CEBPB	chr6:67782365-67782600	HepG2	liver:	n/a	chr6:67782490-67782501
35	CEBPB	chr6:67876996-67877247	IMR90	lung:	n/a	chr6:67877056-67877067
36	CEBPB	chr6:67876937-67877237	HepG2	liver:	n/a	chr6:67877056-67877067
37	CEBPB	chr6:67795908-67796293	Hela-S3	cervix:	n/a	chr6:67796118-67796129
38	CEBPB	chr6:67795971-67796248	HepG2	liver:	n/a	chr6:67796118-67796129
39	CEBPB	chr6:67835195-67835482	HepG2	liver:	n/a	n/a
40	CEBPB	chr6:67886614-67886936	H1-hESC	embryonic stem cell:	n/a	chr6:67886769-67886780
41	CEBPB	chr6:67853600-67853920	Hela-S3	cervix:	n/a	chr6:67853787-67853798
42	CEBPB	chr6:67853465-67853958	IMR90	lung:	n/a	chr6:67853787-67853798
43	CEBPD	chr6:67894118-67894750	K562	blood:	n/a	n/a
44	CEBPD	chr6:67894254-67894724	K562	blood:	n/a	n/a
45	CHD2	chr6:67805738-67805761	HepG2	liver:	n/a	n/a
46	CTCF	chr6:67776420-67776570	BE2_C	brain:	n/a	n/a
47	CTCF	chr6:67776420-67776570	GM12869	blood:	n/a	n/a
48	CTCF	chr6:67776500-67776650	GM12873	blood:	n/a	n/a
49	CTCF	chr6:67776678-67776826	MCF-7	breast:	n/a	n/a
50	CTCF	chr6:67776400-67776550	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:67776186..67778175-chr6:67786497..67788108,2	K562	blood:
2	chr6:67837151..67838674-chr6:67845045..67847077,2	MCF-7	breast:
3	chr6:67888418..67890446-chr6:67892977..67895056,2	K562	blood:
4	chr6:67849721..67851453-chr6:67854745..67856556,2	MCF-7	breast:
5	chr6:67853630..67856068-chr6:67912290..67914729,2	K562	blood:
6	chr6:67776060..67776970-chr6:67797443..67798057,2	MCF-7	breast:
7	chr6:67796143..67796843-chr6:68573181..68573682,2	MCF-7	breast:
8	chr6:67778065..67781225-chr6:67782008..67784983,4	K562	blood:
9	chr6:67877089..67878873-chr6:67880131..67883032,2	K562	blood:
10	chr6:67849721..67851453-chr6:67854745..67856556,2	MCF-7	breast:
11	chr6:67776186..67778175-chr6:67786497..67788108,2	K562	blood:
12	chr6:67797177..67799198-chr6:67799977..67801822,2	K562	blood:
13	chr6:67797177..67799198-chr6:67799977..67801822,2	K562	blood:
14	chr6:67842830..67848213-chr6:67849723..67852791,5	MCF-7	breast:
15	chr6:67842830..67848213-chr6:67849723..67852791,5	MCF-7	breast:
16	chr6:67888637..67891235-chr6:68062524..68064747,2	K562	blood:
17	chr6:67778065..67781225-chr6:67782008..67784983,4	K562	blood:
18	chr6:67783004..67786159-chr6:67787646..67791458,3	K562	blood:
19	chr6:67779443..67782411-chr6:67785393..67788162,4	K562	blood:
20	chr6:67783004..67786159-chr6:67787646..67791458,3	K562	blood:
21	chr6:67837151..67838674-chr6:67845045..67847077,2	MCF-7	breast:
22	chr6:67782061..67786173-chr6:67786217..67792802,8	K562	blood:
23	chr6:67877089..67878873-chr6:67880131..67883032,2	K562	blood:
24	chr6:67888418..67890446-chr6:67892977..67895056,2	K562	blood:
25	chr6:67782061..67786173-chr6:67786217..67792802,8	K562	blood:
26	chr6:67779443..67782411-chr6:67785393..67788162,4	K562	blood:
27	chr6:67776060..67776970-chr6:67797443..67798057,2	MCF-7	breast:
28	chr6:67774843..67776777-chr6:69022561..69024613,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266073	TF binding region

Extended variants
information (count: 498 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367967792	chr6:67778427-67778428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188025632	chr6:67778464-67778465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567143939	chr6:67778521-67778522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2503939	chr6:67778527-67778528	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs561606190	chr6:67778572-67778573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2503938	chr6:67778662-67778663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550418391	chr6:67778674-67778675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554213423	chr6:67778677-67778678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2503937	chr6:67778686-67778687	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192823576	chr6:67778747-67778748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546884207	chr6:67778756-67778757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2444673	chr6:67778797-67778798	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2503936	chr6:67778809-67778810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184752290	chr6:67778836-67778837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146652617	chr6:67778838-67778839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538299090	chr6:67778849-67778850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557974329	chr6:67778887-67778888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578069249	chr6:67778894-67778895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199928289	chr6:67778900-67778901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2444672	chr6:67778939-67778940	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557919869	chr6:67778957-67778958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190401997	chr6:67778964-67778965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542166927	chr6:67778965-67778966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2444671	chr6:67779011-67779012	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141467505	chr6:67779016-67779017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143383340	chr6:67779027-67779028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564071098	chr6:67779030-67779031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532754707	chr6:67779032-67779033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192095356	chr6:67779041-67779042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28754962	chr6:67779044-67779045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2503935	chr6:67779074-67779075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535717870	chr6:67779154-67779155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541868429	chr6:67779155-67779156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2503934	chr6:67779160-67779161	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs60117484	chr6:67779172-67779173	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs2503933	chr6:67779173-67779174	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs558224878	chr6:67779195-67779196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571804295	chr6:67779207-67779208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375032395	chr6:67779231-67779232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9453999	chr6:67779266-67779267	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs554180763	chr6:67779282-67779283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531798260	chr6:67779325-67779326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7770649	chr6:67779326-67779327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2444670	chr6:67779365-67779366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555376254	chr6:67779366-67779367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575391487	chr6:67779373-67779374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141530331	chr6:67779381-67779382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9445814	chr6:67779426-67779427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553867244	chr6:67779460-67779461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2503932	chr6:67779466-67779467	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67778400-67779800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:67786400-67786800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:67789800-67790200	Enhancers	Liver	Liver
4	chr6:67803800-67804400	Enhancers	Brain Germinal Matrix	brain
5	chr6:67804200-67804600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr6:67805400-67806200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:67805400-67806200	Enhancers	HepG2	liver
8	chr6:67821600-67822800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr6:67822200-67822800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:67825000-67825400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:67833400-67833800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:67833800-67835000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:67835000-67835800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:67841600-67842000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr6:67841800-67842200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:67844000-67844400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:67844000-67844400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr6:67846400-67846800	Active TSS	Fetal Heart	heart
19	chr6:67846600-67846800	ZNF genes & repeats	Fetal Kidney	kidney
20	chr6:67870600-67870800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:67876000-67876400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:67885000-67885400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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