Variant report

Variant	nsv886717
Chromosome Location	chr6:140976110-141024947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:233)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:233 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:140999274-140999525	GM12878	blood:	n/a	n/a
2	CCNT2	chr6:141006502-141006618	K562	blood:	n/a	n/a
3	CEBPB	chr6:141006465-141006576	HepG2	liver:	n/a	n/a
4	CEBPB	chr6:140978710-140979038	HepG2	liver:	n/a	n/a
5	CEBPB	chr6:141019569-141019573	K562	blood:	n/a	n/a
6	CEBPB	chr6:141005694-141005708	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr6:140978793-140979003	K562	blood:	n/a	n/a
8	CEBPB	chr6:140992588-140992943	HepG2	liver:	n/a	chr6:140992865-140992876
9	CEBPB	chr6:141006378-141006630	IMR90	lung:	n/a	n/a
10	CEBPB	chr6:141023864-141024001	HepG2	liver:	n/a	n/a
11	CEBPB	chr6:140978749-140979032	IMR90	lung:	n/a	n/a
12	CTCF	chr6:140993120-140993270	NB4	blood:	n/a	n/a
13	CTCF	chr6:141016300-141016450	GM12874	blood:	n/a	n/a
14	CTCF	chr6:140976540-140976690	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr6:140993180-140993330	Caco-2	colon:	n/a	n/a
16	CTCF	chr6:140993206-140993275	GM19239	blood:	n/a	n/a
17	CTCF	chr6:140993160-140993310	HCFaa	heart:	n/a	n/a
18	CTCF	chr6:140993180-140993330	GM12874	blood:	n/a	n/a
19	CTCF	chr6:140993180-140993330	A549	lung:	n/a	n/a
20	CTCF	chr6:140993108-140993366	MCF-7	breast:	n/a	n/a
21	CTCF	chr6:140993060-140993210	GM12866	blood:	n/a	n/a
22	CTCF	chr6:140993000-140993150	A549	lung:	n/a	n/a
23	CTCF	chr6:140993140-140993290	GM12873	blood:	n/a	n/a
24	CTCF	chr6:140996196-140996307	GM20000	blood:	n/a	n/a
25	CTCF	chr6:140993120-140993270	GM12875	blood:	n/a	n/a
26	CTCF	chr6:140993230-140993255	LNCaP	prostate:	n/a	n/a
27	CTCF	chr6:140993120-140993270	RPTEC	kidney:	n/a	n/a
28	CTCF	chr6:140993040-140993190	HCT-116	colon:	n/a	n/a
29	CTCF	chr6:141024209-141024258	Lung_OC	lung:	n/a	n/a
30	CTCF	chr6:140993080-140993230	HEEpiC	esophagus:	n/a	n/a
31	CTCF	chr6:140993200-140993350	GM12871	blood:	n/a	n/a
32	CTCF	chr6:141004780-141004930	Caco-2	colon:	n/a	n/a
33	CTCF	chr6:140993160-140993310	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr6:141016743-141016808	GM10248	blood:	n/a	n/a
35	CTCF	chr6:140993120-140993270	HMF	breast:	n/a	n/a
36	CTCF	chr6:140993114-140993467	MCF-7	breast:	n/a	n/a
37	CTCF	chr6:141016160-141016310	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr6:140993157-140993347	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr6:140993149-140993319	Gliobla	brain:	n/a	n/a
40	CTCF	chr6:140993128-140993351	MCF-7	breast:	n/a	n/a
41	CTCF	chr6:140993180-140993277	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr6:140993205-140993328	Pancreas_OC	pancreas:	n/a	n/a
43	CTCF	chr6:141015864-141015963	Medullo	brain:	n/a	n/a
44	CTCF	chr6:140993220-140993370	RPTEC	kidney:	n/a	n/a
45	CTCF	chr6:140993140-140993290	HMEC	breast:	n/a	n/a
46	CTCF	chr6:140993140-140993290	GM12868	blood:	n/a	n/a
47	CTCF	chr6:140993140-140993290	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr6:140993180-140993330	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr6:140993160-140993310	BE2_C	brain:	n/a	n/a
50	CTCF	chr6:140993180-140993330	HBMEC	blood vessel:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:140995862..140998424-chr6:141006767..141008386,2	K562	blood:
2	chr6:140988668..140990726-chr6:140994294..140996979,2	K562	blood:
3	chr6:140974220..140975794-chr6:140989570..140992507,2	K562	blood:
4	chr6:140983001..140985814-chr6:140986473..140989700,3	K562	blood:
5	chr6:140995862..140998424-chr6:141006767..141008386,2	K562	blood:
6	chr6:140973276..140976134-chr6:140976580..140978655,2	MCF-7	breast:
7	chr6:140976457..140978107-chr6:140978749..140981141,2	K562	blood:
8	chr6:140976457..140978107-chr6:140978749..140981141,2	K562	blood:
9	chr6:140983001..140985814-chr6:140986473..140989700,3	K562	blood:
10	chr6:140988668..140990726-chr6:140994294..140996979,2	K562	blood:
11	chr6:140973276..140976134-chr6:140976580..140978655,2	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4465	chr6:141004992-141005013	MIMAT0018992

No data

Variant related genes	Relation type
ENSG00000221336	TF binding region
MIR4465	TF binding region

Extended variants
information (count: 1523 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1523 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1414841	chr6:140976110-140976111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35539621	chr6:140976225-140976226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571756626	chr6:140976232-140976233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539272623	chr6:140976267-140976268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186252900	chr6:140976288-140976289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554189770	chr6:140976292-140976293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs5880479	chr6:140976309-140976310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs398110758	chr6:140976315-140976316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190770345	chr6:140976355-140976356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562895827	chr6:140976386-140976387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182538058	chr6:140976397-140976398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73565545	chr6:140976462-140976463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555028340	chr6:140976475-140976476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576606127	chr6:140976489-140976490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543973101	chr6:140976491-140976492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576398912	chr6:140976495-140976496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374825429	chr6:140976533-140976534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562657561	chr6:140976616-140976617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533004641	chr6:140976654-140976655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545256384	chr6:140976659-140976660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545642553	chr6:140976665-140976666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560175400	chr6:140976694-140976695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186881185	chr6:140976699-140976700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548566274	chr6:140976709-140976710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190586584	chr6:140976814-140976815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149297220	chr6:140976840-140976841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375804906	chr6:140976843-140976844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566964398	chr6:140976872-140976873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531267527	chr6:140976877-140976878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549467060	chr6:140976961-140976962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571783006	chr6:140977017-140977018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538875271	chr6:140977049-140977050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182976649	chr6:140977050-140977051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188311735	chr6:140977086-140977087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193291621	chr6:140977118-140977119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554991505	chr6:140977119-140977120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576510038	chr6:140977124-140977125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185536679	chr6:140977148-140977149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558801624	chr6:140977208-140977209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577305246	chr6:140977222-140977223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534924258	chr6:140977234-140977235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560342588	chr6:140977262-140977263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572000601	chr6:140977288-140977289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542524366	chr6:140977297-140977298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527858997	chr6:140977324-140977325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187867357	chr6:140977339-140977340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531227279	chr6:140977369-140977370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549812146	chr6:140977377-140977378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564813285	chr6:140977408-140977409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546695437	chr6:140977419-140977420	Weak transcription	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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	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
Colorectal cancer	16272173	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140948600-140991200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:140975400-140981400	Weak transcription	NHDF-Ad	bronchial
3	chr6:140978600-140981600	Weak transcription	HSMM	muscle
4	chr6:140981200-140981400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:140981200-140981400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:140981200-140982000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:140981200-140982000	Enhancers	Fetal Intestine Small	intestine
8	chr6:140981400-140981600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:140981400-140981600	Enhancers	Osteobl	bone
10	chr6:140981400-140981800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:140981400-140981800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:140981400-140981800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr6:140981400-140982000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:140981400-140982000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:140981400-140982000	Enhancers	Fetal Intestine Large	intestine
16	chr6:140981400-140982000	Enhancers	NHDF-Ad	bronchial
17	chr6:140981400-140982200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:140981600-140982600	Weak transcription	Osteobl	bone
19	chr6:140981600-140982800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:140981600-140983400	Enhancers	HSMM	muscle
21	chr6:140981800-140982800	Active TSS	Ovary	ovary
22	chr6:140981800-140983600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:140981800-140990600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:140982000-140982600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:140982000-140982800	Weak transcription	NHDF-Ad	bronchial
26	chr6:140982200-140983000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:140982600-140983200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:140982600-140983800	Enhancers	Osteobl	bone
29	chr6:140982800-140983000	Enhancers	NHLF	lung
30	chr6:140982800-140983200	Enhancers	NHDF-Ad	bronchial
31	chr6:140982800-140983400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr6:140982800-140983400	Enhancers	NH-A	brain
33	chr6:140983000-140983600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:140983000-140983600	Weak transcription	NHLF	lung
35	chr6:140983200-140984400	Weak transcription	NHDF-Ad	bronchial
36	chr6:140983200-140985400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:140983400-140990600	Weak transcription	HSMM	muscle
38	chr6:140983600-140983800	Enhancers	NHLF	lung
39	chr6:140983600-140984400	Enhancers	Brain Germinal Matrix	brain
40	chr6:140983600-140985000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:140983800-140984400	Weak transcription	Osteobl	bone
42	chr6:140983800-140985000	Weak transcription	NHLF	lung
43	chr6:140984200-140985200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:140984400-140984600	Active TSS	Ovary	ovary
45	chr6:140984400-140984800	Active TSS	NHDF-Ad	bronchial
46	chr6:140984400-140985000	Active TSS	Osteobl	bone
47	chr6:140984600-140985200	Enhancers	HUVEC	blood vessel
48	chr6:140984600-140985400	Enhancers	Primary B cells from cord blood	blood
49	chr6:140985000-140985200	Active TSS	Ovary	ovary
50	chr6:140985000-140985200	Enhancers	NHLF	lung

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