Variant report

Variant	nsv1025899
Chromosome Location	chr6:65498841-65691929
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	chr6:65525598-65525841	HepG2	liver:	n/a	n/a
2	CCNT2	chr6:65571222-65571362	K562	blood:	n/a	n/a
3	CEBPB	chr6:65572184-65572481	HepG2	liver:	n/a	chr6:65572340-65572351
4	CEBPB	chr6:65624048-65624422	MCF-7	breast:	n/a	chr6:65624191-65624204
5	CEBPB	chr6:65625912-65626201	HepG2	liver:	n/a	chr6:65626064-65626077 chr6:65626064-65626075 chr6:65626064-65626077 chr6:65626066-65626077
6	CEBPB	chr6:65655382-65655691	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr6:65687931-65688253	HepG2	liver:	n/a	chr6:65688100-65688111
8	CEBPB	chr6:65675891-65675987	Hela-S3	cervix:	n/a	chr6:65675924-65675933
9	CEBPB	chr6:65678799-65679086	A549	lung:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
10	CEBPB	chr6:65572177-65572453	IMR90	lung:	n/a	chr6:65572340-65572351
11	CEBPB	chr6:65655359-65655621	MCF-7	breast:	n/a	n/a
12	CEBPB	chr6:65655355-65655724	IMR90	lung:	n/a	n/a
13	CEBPB	chr6:65572146-65572394	A549	lung:	n/a	chr6:65572340-65572351
14	CEBPB	chr6:65538481-65538811	HepG2	liver:	n/a	n/a
15	CEBPB	chr6:65600236-65601065	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr6:65655375-65655700	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr6:65655361-65655722	A549	lung:	n/a	n/a
18	CEBPB	chr6:65678779-65679107	IMR90	lung:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
19	CEBPB	chr6:65655365-65655724	HepG2	liver:	n/a	n/a
20	CEBPB	chr6:65655287-65655751	MCF-7	breast:	n/a	n/a
21	CEBPB	chr6:65600382-65600740	MCF-7	breast:	n/a	n/a
22	CEBPB	chr6:65675810-65676027	HepG2	liver:	n/a	chr6:65675924-65675933
23	CEBPB	chr6:65678825-65679127	H1-hESC	embryonic stem cell:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
24	CEBPB	chr6:65623734-65624686	Hela-S3	cervix:	n/a	chr6:65624191-65624204
25	CEBPB	chr6:65623864-65624542	MCF-7	breast:	n/a	chr6:65624191-65624204
26	CEBPB	chr6:65525597-65526422	HepG2	liver:	n/a	chr6:65525915-65525928 chr6:65525767-65525778 chr6:65526247-65526258
27	CEBPB	chr6:65525648-65525848	HepG2	liver:	n/a	chr6:65525767-65525778
28	CEBPB	chr6:65681969-65682239	HepG2	liver:	n/a	chr6:65682126-65682137 chr6:65682100-65682111
29	CEBPB	chr6:65675755-65676074	IMR90	lung:	n/a	chr6:65675924-65675933
30	CEBPB	chr6:65522087-65522373	A549	lung:	n/a	chr6:65522209-65522222
31	CEBPB	chr6:65613037-65613385	HepG2	liver:	n/a	chr6:65613217-65613226 chr6:65613217-65613228 chr6:65613215-65613228
32	CEBPB	chr6:65655435-65655701	K562	blood:	n/a	n/a
33	CEBPB	chr6:65675769-65676009	A549	lung:	n/a	chr6:65675924-65675933
34	CEBPB	chr6:65675819-65675920	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr6:65522058-65522393	IMR90	lung:	n/a	chr6:65522209-65522222
36	CEBPB	chr6:65688032-65688232	A549	lung:	n/a	chr6:65688100-65688111
37	CEBPB	chr6:65522061-65522426	HepG2	liver:	n/a	chr6:65522209-65522222
38	CEBPB	chr6:65678779-65679145	HepG2	liver:	n/a	chr6:65678958-65678969 chr6:65678960-65678971
39	CEBPB	chr6:65509375-65509592	HepG2	liver:	n/a	chr6:65509500-65509517 chr6:65509502-65509513
40	CHD2	chr6:65673398-65673482	HepG2	liver:	n/a	n/a
41	CTCF	chr6:65548581-65548940	MCF-7	breast:	n/a	chr6:65548796-65548809
42	CTCF	chr6:65548724-65548876	Pancreas_OC	pancreas:	n/a	chr6:65548796-65548809
43	CTCF	chr6:65659240-65659390	GM12865	blood:	n/a	n/a
44	CTCF	chr6:65512885-65512916	Fibrobl	skin:	n/a	n/a
45	CTCF	chr6:65657320-65657470	GM12875	blood:	n/a	n/a
46	CTCF	chr6:65548720-65548870	HPAF	blood vessel:	n/a	chr6:65548796-65548809
47	CTCF	chr6:65548720-65548870	HEEpiC	esophagus:	n/a	chr6:65548796-65548809
48	CTCF	chr6:65680596-65680698	GM20000	blood:	n/a	n/a
49	CTCF	chr6:65638362-65638407	GM20000	blood:	n/a	n/a
50	CTCF	chr6:65548680-65548916	HUVEC	blood vessel:	n/a	chr6:65548796-65548809

No.	Distal block	Cell Line	Cell type
1	chr6:65508586..65510925-chr6:65512987..65515640,2	K562	blood:
2	chr6:65595975..65598086-chr6:65600070..65602994,2	K562	blood:
3	chr6:65504361..65506628-chr6:65508181..65511156,2	K562	blood:
4	chr6:65505444..65508032-chr6:65566927..65569730,2	MCF-7	breast:
5	chr6:65595975..65598086-chr6:65600070..65602994,2	K562	blood:
6	chr3:76820204..76820882-chr6:65566726..65567360,2	MCF-7	breast:
7	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:
8	chr6:65519121..65521622-chr6:65533277..65535390,2	MCF-7	breast:
9	chr6:65485742..65487439-chr6:65500901..65503831,2	MCF-7	breast:
10	chr6:65508586..65510925-chr6:65512987..65515640,2	K562	blood:
11	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:
12	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:
13	chr6:65519121..65521622-chr6:65533277..65535390,2	MCF-7	breast:
14	chr6:65504361..65506628-chr6:65508181..65511156,2	K562	blood:
15	chr6:65505444..65508032-chr6:65566927..65569730,2	MCF-7	breast:
16	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221312	TF binding region

Extended variants
information (count: 1979 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1979 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557972435	chr6:65498841-65498842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145810589	chr6:65498842-65498843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370558304	chr6:65498864-65498865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540575638	chr6:65498869-65498870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75757382	chr6:65498893-65498894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566264697	chr6:65498936-65498937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559274468	chr6:65498938-65498939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182292309	chr6:65498961-65498962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541845436	chr6:65498971-65498972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561745861	chr6:65498998-65498999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530662402	chr6:65499031-65499032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550753990	chr6:65499051-65499052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370038753	chr6:65499053-65499054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375320904	chr6:65499057-65499058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533234201	chr6:65499141-65499142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79571500	chr6:65499157-65499158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566789936	chr6:65499166-65499167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186623850	chr6:65499183-65499184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78171427	chr6:65499233-65499234	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs369688549	chr6:65499279-65499280	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs570495338	chr6:65499293-65499294	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs537961140	chr6:65499308-65499309	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs557886401	chr6:65499312-65499313	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs75502980	chr6:65499323-65499324	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs534472595	chr6:65499352-65499353	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs193111704	chr6:65499359-65499360	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs375859207	chr6:65499386-65499387	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs185563917	chr6:65499394-65499395	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs190092151	chr6:65499411-65499412	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs556982441	chr6:65499415-65499416	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs575363308	chr6:65499440-65499441	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs138287173	chr6:65499445-65499446	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs564239385	chr6:65499462-65499463	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs371098998	chr6:65499475-65499476	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs374415065	chr6:65499482-65499483	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs546799560	chr6:65499494-65499495	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73448451	chr6:65499496-65499497	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs114100940	chr6:65499547-65499548	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs548927875	chr6:65499556-65499557	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs111511960	chr6:65499577-65499578	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs141298321	chr6:65499602-65499603	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs537923945	chr6:65499612-65499613	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs193074676	chr6:65499621-65499622	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs150183405	chr6:65499687-65499688	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs534111213	chr6:65499744-65499745	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs537555252	chr6:65499755-65499756	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs184128255	chr6:65499756-65499757	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs146411584	chr6:65499778-65499779	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs71698793	chr6:65499789-65499790	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs536954259	chr6:65499795-65499796	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65498200-65501200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr6:65498400-65501000	Enhancers	Primary hematopoietic stem cells	blood
3	chr6:65498600-65499200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:65498800-65501200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:65499200-65499600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:65499200-65499800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:65499800-65501400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:65513400-65514000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:65513600-65514000	ZNF genes & repeats	Esophagus	oesophagus
10	chr6:65514000-65514400	Weak transcription	Esophagus	oesophagus
11	chr6:65521000-65521800	Enhancers	Fetal Stomach	stomach
12	chr6:65521000-65521800	Enhancers	Rectal Smooth Muscle	rectum
13	chr6:65525600-65526000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:65525600-65526200	Enhancers	HepG2	liver
15	chr6:65532000-65532800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr6:65532800-65533400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr6:65533400-65534000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr6:65533600-65534000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:65534000-65534200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr6:65543800-65544600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:65570000-65571200	Enhancers	Adipose Nuclei	Adipose
22	chr6:65571200-65572200	Weak transcription	Adipose Nuclei	Adipose
23	chr6:65572200-65572400	Enhancers	Adipose Nuclei	Adipose
24	chr6:65588400-65589200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:65589200-65589800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:65589800-65590000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:65597400-65598200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:65598000-65598600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:65598200-65598400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:65598200-65600200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:65599200-65599800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr6:65599400-65599600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:65599600-65600000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr6:65599600-65600600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:65599800-65600600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:65600000-65600400	Enhancers	HUVEC	blood vessel
37	chr6:65600000-65600600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr6:65600200-65600600	Active TSS	Hela-S3	cervix
39	chr6:65600200-65601600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr6:65600200-65601800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr6:65600200-65603800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:65600400-65601000	Active TSS	NH-A	brain
43	chr6:65600400-65601600	Flanking Active TSS	HUVEC	blood vessel
44	chr6:65600600-65601200	Enhancers	Hela-S3	cervix
45	chr6:65600600-65601600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:65600600-65601600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr6:65600600-65601600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr6:65600600-65604200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr6:65600800-65601400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:65601000-65601400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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