Variant report

Variant	nsv603405
Chromosome Location	chr6:65556355-65681583
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	CCNT2	chr6:65571222-65571362	K562	blood:	n/a	n/a
2	CEBPB	chr6:65678779-65679145	HepG2	liver:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
3	CEBPB	chr6:65675810-65676027	HepG2	liver:	n/a	chr6:65675924-65675933
4	CEBPB	chr6:65675769-65676009	A549	lung:	n/a	chr6:65675924-65675933
5	CEBPB	chr6:65655435-65655701	K562	blood:	n/a	n/a
6	CEBPB	chr6:65625912-65626201	HepG2	liver:	n/a	chr6:65626064-65626077 chr6:65626064-65626075 chr6:65626064-65626077 chr6:65626066-65626077
7	CEBPB	chr6:65655375-65655700	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr6:65655355-65655724	IMR90	lung:	n/a	n/a
9	CEBPB	chr6:65655365-65655724	HepG2	liver:	n/a	n/a
10	CEBPB	chr6:65624048-65624422	MCF-7	breast:	n/a	chr6:65624191-65624204
11	CEBPB	chr6:65675819-65675920	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr6:65678799-65679086	A549	lung:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
13	CEBPB	chr6:65572146-65572394	A549	lung:	n/a	chr6:65572340-65572351
14	CEBPB	chr6:65572184-65572481	HepG2	liver:	n/a	chr6:65572340-65572351
15	CEBPB	chr6:65678825-65679127	H1-hESC	embryonic stem cell:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
16	CEBPB	chr6:65623864-65624542	MCF-7	breast:	n/a	chr6:65624191-65624204
17	CEBPB	chr6:65623734-65624686	Hela-S3	cervix:	n/a	chr6:65624191-65624204
18	CEBPB	chr6:65675755-65676074	IMR90	lung:	n/a	chr6:65675924-65675933
19	CEBPB	chr6:65655382-65655691	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr6:65600382-65600740	MCF-7	breast:	n/a	n/a
21	CEBPB	chr6:65655287-65655751	MCF-7	breast:	n/a	n/a
22	CEBPB	chr6:65675891-65675987	Hela-S3	cervix:	n/a	chr6:65675924-65675933
23	CEBPB	chr6:65613037-65613385	HepG2	liver:	n/a	chr6:65613217-65613226 chr6:65613217-65613228 chr6:65613215-65613228
24	CEBPB	chr6:65572177-65572453	IMR90	lung:	n/a	chr6:65572340-65572351
25	CEBPB	chr6:65678779-65679107	IMR90	lung:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
26	CEBPB	chr6:65600236-65601065	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr6:65655361-65655722	A549	lung:	n/a	n/a
28	CEBPB	chr6:65655359-65655621	MCF-7	breast:	n/a	n/a
29	CHD2	chr6:65673398-65673482	HepG2	liver:	n/a	n/a
30	CTCF	chr6:65632720-65632870	BE2_C	brain:	n/a	n/a
31	CTCF	chr6:65633855-65633946	MCF-7	breast:	n/a	n/a
32	CTCF	chr6:65647300-65647450	AG10803	skin:	n/a	n/a
33	CTCF	chr6:65571162-65571210	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:65633847-65633964	MCF-7	breast:	n/a	n/a
35	CTCF	chr6:65584781-65584857	NHEK	skin:	n/a	n/a
36	CTCF	chr6:65633850-65633932	MCF-7	breast:	n/a	n/a
37	CTCF	chr6:65574880-65574921	LNCaP	prostate:	n/a	n/a
38	CTCF	chr6:65633847-65633955	Medullo	brain:	n/a	n/a
39	CTCF	chr6:65680596-65680698	GM20000	blood:	n/a	n/a
40	CTCF	chr6:65632736-65632786	MCF-7	breast:	n/a	n/a
41	CTCF	chr6:65659240-65659390	GM12865	blood:	n/a	n/a
42	CTCF	chr6:65620000-65620150	HPF	lung:	n/a	n/a
43	CTCF	chr6:65584767-65584877	ProgFib	skin:	n/a	n/a
44	CTCF	chr6:65638260-65638410	HepG2	liver:	n/a	n/a
45	CTCF	chr6:65657320-65657470	GM12875	blood:	n/a	n/a
46	CTCF	chr6:65640800-65640950	HFF	foreskin:	n/a	n/a
47	CTCF	chr6:65562295-65562346	ProgFib	skin:	n/a	n/a
48	CTCF	chr6:65633840-65633990	HepG2	liver:	n/a	n/a
49	CTCF	chr6:65638362-65638407	GM20000	blood:	n/a	n/a
50	E2F4	chr6:65588920-65589156	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:65595975..65598086-chr6:65600070..65602994,2	K562	blood:
2	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:
3	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:
4	chr6:65595975..65598086-chr6:65600070..65602994,2	K562	blood:
5	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:
6	chr3:76820204..76820882-chr6:65566726..65567360,2	MCF-7	breast:
7	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:
8	chr6:65505444..65508032-chr6:65566927..65569730,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221312	TF binding region

Extended variants
information (count: 1306 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1306 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139547986	chr6:65570027-65570028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189425922	chr6:65570030-65570031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556188320	chr6:65570061-65570062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9453091	chr6:65570063-65570064	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs114531496	chr6:65570071-65570072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558592551	chr6:65570125-65570126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572063099	chr6:65570128-65570129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142651312	chr6:65570130-65570131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9342439	chr6:65570156-65570157	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574387464	chr6:65570178-65570179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543352525	chr6:65570190-65570191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563326024	chr6:65570195-65570196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146020823	chr6:65570200-65570201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553137361	chr6:65570211-65570212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139983176	chr6:65570215-65570216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73767133	chr6:65570224-65570225	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538870447	chr6:65570267-65570268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528584885	chr6:65570295-65570296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548762371	chr6:65570297-65570298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9363278	chr6:65570323-65570324	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531218681	chr6:65570340-65570341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9354170	chr6:65570365-65570366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs180733798	chr6:65570373-65570374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538594561	chr6:65570508-65570509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs60759312	chr6:65570518-65570519	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565723865	chr6:65570572-65570573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114877520	chr6:65570596-65570597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143327119	chr6:65570634-65570635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574326065	chr6:65570642-65570643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543288879	chr6:65570659-65570660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556806852	chr6:65570693-65570694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577076517	chr6:65570702-65570703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561572610	chr6:65570724-65570725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370069387	chr6:65570729-65570730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144553754	chr6:65570752-65570753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112295661	chr6:65570757-65570758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116792837	chr6:65570776-65570777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542379145	chr6:65570798-65570799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562248015	chr6:65570818-65570819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531099513	chr6:65570864-65570865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs56321212	chr6:65570893-65570894	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs186128877	chr6:65570905-65570906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533462754	chr6:65570919-65570920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34744999	chr6:65570925-65570926	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs565579334	chr6:65570940-65570941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191001382	chr6:65570960-65570961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554272026	chr6:65571038-65571039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567833916	chr6:65571076-65571077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536813653	chr6:65571105-65571106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181365272	chr6:65571111-65571112	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65570000-65571200	Enhancers	Adipose Nuclei	Adipose
2	chr6:65571200-65572200	Weak transcription	Adipose Nuclei	Adipose
3	chr6:65572200-65572400	Enhancers	Adipose Nuclei	Adipose
4	chr6:65588400-65589200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:65589200-65589800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:65589800-65590000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:65597400-65598200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:65598000-65598600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:65598200-65598400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:65598200-65600200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:65599200-65599800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:65599400-65599600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:65599600-65600000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr6:65599600-65600600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:65599800-65600600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:65600000-65600400	Enhancers	HUVEC	blood vessel
17	chr6:65600000-65600600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr6:65600200-65600600	Active TSS	Hela-S3	cervix
19	chr6:65600200-65601600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:65600200-65601800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:65600200-65603800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr6:65600400-65601000	Active TSS	NH-A	brain
23	chr6:65600400-65601600	Flanking Active TSS	HUVEC	blood vessel
24	chr6:65600600-65601200	Enhancers	Hela-S3	cervix
25	chr6:65600600-65601600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:65600600-65601600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:65600600-65601600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:65600600-65604200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:65600800-65601400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:65601000-65601400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:65601000-65601600	Enhancers	NH-A	brain
32	chr6:65601200-65601600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:65601200-65601600	Flanking Active TSS	Hela-S3	cervix
34	chr6:65601600-65602600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:65601600-65602600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:65601600-65602800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:65601600-65602800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:65601600-65602800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr6:65601600-65603000	Enhancers	HUVEC	blood vessel
40	chr6:65601800-65602200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:65602200-65603800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr6:65602600-65603200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:65602600-65603400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:65602800-65603200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr6:65602800-65603400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr6:65603000-65603200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:65612200-65613400	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr6:65612600-65613400	Enhancers	Fetal Brain Female	brain
49	chr6:65613200-65613600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr6:65614000-65614600	Enhancers	HUVEC	blood vessel

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