Variant report

Variant	nsv886713
Chromosome Location	chr6:140968292-141024947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:326)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:326 , 50 per page) page: 1 2 3 4 5 6 7

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	chr6:140978793-140979003	K562	blood:	n/a	n/a
4	CEBPB	chr6:141023864-141024001	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	chr6:140992588-140992943	HepG2	liver:	n/a	chr6:140992865-140992876
8	CEBPB	chr6:140978749-140979032	IMR90	lung:	n/a	n/a
9	CEBPB	chr6:140978710-140979038	HepG2	liver:	n/a	n/a
10	CEBPB	chr6:141006465-141006576	HepG2	liver:	n/a	n/a
11	CEBPB	chr6:141006378-141006630	IMR90	lung:	n/a	n/a
12	CTCF	chr6:140993100-140993250	SAEC	small airway:	n/a	n/a
13	CTCF	chr6:140993174-140993314	HepG2	liver:	n/a	n/a
14	CTCF	chr6:140971368-140971513	GM12878	blood:	n/a	n/a
15	CTCF	chr6:140993114-140993467	MCF-7	breast:	n/a	n/a
16	CTCF	chr6:140993120-140993270	HRE	kidney:	n/a	n/a
17	CTCF	chr6:140993160-140993310	GM12872	blood:	n/a	n/a
18	CTCF	chr6:140971380-140971530	K562	blood:	n/a	n/a
19	CTCF	chr6:140971340-140971490	SAEC	small airway:	n/a	n/a
20	CTCF	chr6:140971340-140971490	GM12875	blood:	n/a	n/a
21	CTCF	chr6:140971352-140971545	K562	blood:	n/a	n/a
22	CTCF	chr6:140993164-140993331	GM12878	blood:	n/a	n/a
23	CTCF	chr6:140993000-140993150	A549	lung:	n/a	n/a
24	CTCF	chr6:140971400-140971550	HMEC	breast:	n/a	n/a
25	CTCF	chr6:140993152-140993321	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr6:140993200-140993350	GM12864	blood:	n/a	n/a
27	CTCF	chr6:140993140-140993290	GM12878	blood:	n/a	n/a
28	CTCF	chr6:140993140-140993290	K562	blood:	n/a	n/a
29	CTCF	chr6:140993200-140993350	HA-sp	spinal cord:	n/a	n/a
30	CTCF	chr6:140996196-140996307	GM20000	blood:	n/a	n/a
31	CTCF	chr6:141024209-141024258	Lung_OC	lung:	n/a	n/a
32	CTCF	chr6:141016300-141016450	GM12874	blood:	n/a	n/a
33	CTCF	chr6:140989831-140989867	Lung_OC	lung:	n/a	n/a
34	CTCF	chr6:140971321-140971570	MCF-7	breast:	n/a	n/a
35	CTCF	chr6:140993140-140993290	HMEC	breast:	n/a	n/a
36	CTCF	chr6:140993080-140993230	HEEpiC	esophagus:	n/a	n/a
37	CTCF	chr6:141016160-141016310	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr6:140993160-140993310	HEK293	kidney:	n/a	n/a
39	CTCF	chr6:140971320-140971470	HVMF	connective:	n/a	n/a
40	CTCF	chr6:140981300-140981450	HVMF	connective:	n/a	n/a
41	CTCF	chr6:140993177-140993301	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr6:140993160-140993310	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr6:140993140-140993290	GM12864	blood:	n/a	n/a
44	CTCF	chr6:140993158-140993321	K562	blood:	n/a	n/a
45	CTCF	chr6:140971340-140971490	NHEK	skin:	n/a	n/a
46	CTCF	chr6:140993200-140993350	MCF-7	breast:	n/a	n/a
47	CTCF	chr6:140993122-140993300	HepG2	liver:	n/a	n/a
48	CTCF	chr6:140993206-140993275	GM19239	blood:	n/a	n/a
49	CTCF	chr6:140993205-140993314	ProgFib	skin:	n/a	n/a
50	CTCF	chr6:140993160-140993310	BE2_C	brain:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:140974220..140975794-chr6:140989570..140992507,2	K562	blood:
2	chr6:140974220..140975794-chr6:140989570..140992507,2	K562	blood:
3	chr6:140988668..140990726-chr6:140994294..140996979,2	K562	blood:
4	chr6:140973276..140976134-chr6:140976580..140978655,2	MCF-7	breast:
5	chr6:140983001..140985814-chr6:140986473..140989700,3	K562	blood:
6	chr6:140976457..140978107-chr6:140978749..140981141,2	K562	blood:
7	chr6:140988668..140990726-chr6:140994294..140996979,2	K562	blood:
8	chr6:139691177..139693399-chr6:140971784..140974474,2	MCF-7	breast:
9	chr6:140976457..140978107-chr6:140978749..140981141,2	K562	blood:
10	chr6:140995862..140998424-chr6:141006767..141008386,2	K562	blood:
11	chr6:140983001..140985814-chr6:140986473..140989700,3	K562	blood:
12	chr6:140973276..140976134-chr6:140976580..140978655,2	MCF-7	breast:
13	chr6:140995862..140998424-chr6:141006767..141008386,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HECA-10	chr6:140972927-140973185	l_3279_chr6:140928454-140973185_placenta

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: 1792 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1792 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1591558	chr6:140968292-140968293	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569284948	chr6:140968381-140968382	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148549770	chr6:140968388-140968389	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186339967	chr6:140968424-140968425	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56869453	chr6:140968425-140968426	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539574189	chr6:140968451-140968452	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4052822	chr6:140968521-140968522	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140188583	chr6:140968522-140968523	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572921898	chr6:140968572-140968573	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570992514	chr6:140968593-140968594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191640634	chr6:140968618-140968619	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554338061	chr6:140968646-140968647	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183553416	chr6:140968652-140968653	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186000060	chr6:140968655-140968656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143936334	chr6:140968715-140968716	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576473852	chr6:140968724-140968725	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370361661	chr6:140968788-140968789	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139895387	chr6:140968789-140968790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140248921	chr6:140968799-140968800	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202091037	chr6:140968814-140968815	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200636109	chr6:140968816-140968817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543825315	chr6:140968822-140968823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559021375	chr6:140968877-140968878	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562026047	chr6:140968948-140968949	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575299896	chr6:140968977-140968978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146780396	chr6:140968999-140969000	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541208317	chr6:140969028-140969029	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191165707	chr6:140969065-140969066	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373393350	chr6:140969066-140969067	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527498018	chr6:140969067-140969068	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7776381	chr6:140969098-140969099	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560863808	chr6:140969099-140969100	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78068404	chr6:140969153-140969154	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549342902	chr6:140969160-140969161	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544417909	chr6:140969183-140969184	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150006411	chr6:140969185-140969186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532223234	chr6:140969202-140969203	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547184142	chr6:140969219-140969220	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183328536	chr6:140969235-140969236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536464855	chr6:140969247-140969248	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555181242	chr6:140969275-140969276	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564393173	chr6:140969314-140969315	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570344656	chr6:140969316-140969317	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72981869	chr6:140969329-140969330	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186962122	chr6:140969391-140969392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145251837	chr6:140969392-140969393	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541470298	chr6:140969399-140969400	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553213669	chr6:140969415-140969416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192539316	chr6:140969430-140969431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370133622	chr6:140969440-140969441	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140948600-140991200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:140967800-140969400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:140968000-140970400	Weak transcription	Ovary	ovary
4	chr6:140974800-140975400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr6:140975000-140975400	Enhancers	Fetal Intestine Small	intestine
6	chr6:140975000-140975400	Enhancers	HUVEC	blood vessel
7	chr6:140975000-140975400	Enhancers	NHDF-Ad	bronchial
8	chr6:140975400-140981400	Weak transcription	NHDF-Ad	bronchial
9	chr6:140978600-140981600	Weak transcription	HSMM	muscle
10	chr6:140981200-140981400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:140981200-140981400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:140981200-140982000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:140981200-140982000	Enhancers	Fetal Intestine Small	intestine
14	chr6:140981400-140981600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:140981400-140981600	Enhancers	Osteobl	bone
16	chr6:140981400-140981800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:140981400-140981800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:140981400-140981800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr6:140981400-140982000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:140981400-140982000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr6:140981400-140982000	Enhancers	Fetal Intestine Large	intestine
22	chr6:140981400-140982000	Enhancers	NHDF-Ad	bronchial
23	chr6:140981400-140982200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:140981600-140982600	Weak transcription	Osteobl	bone
25	chr6:140981600-140982800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:140981600-140983400	Enhancers	HSMM	muscle
27	chr6:140981800-140982800	Active TSS	Ovary	ovary
28	chr6:140981800-140983600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:140981800-140990600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:140982000-140982600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:140982000-140982800	Weak transcription	NHDF-Ad	bronchial
32	chr6:140982200-140983000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:140982600-140983200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:140982600-140983800	Enhancers	Osteobl	bone
35	chr6:140982800-140983000	Enhancers	NHLF	lung
36	chr6:140982800-140983200	Enhancers	NHDF-Ad	bronchial
37	chr6:140982800-140983400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:140982800-140983400	Enhancers	NH-A	brain
39	chr6:140983000-140983600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:140983000-140983600	Weak transcription	NHLF	lung
41	chr6:140983200-140984400	Weak transcription	NHDF-Ad	bronchial
42	chr6:140983200-140985400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:140983400-140990600	Weak transcription	HSMM	muscle
44	chr6:140983600-140983800	Enhancers	NHLF	lung
45	chr6:140983600-140984400	Enhancers	Brain Germinal Matrix	brain
46	chr6:140983600-140985000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:140983800-140984400	Weak transcription	Osteobl	bone
48	chr6:140983800-140985000	Weak transcription	NHLF	lung
49	chr6:140984200-140985200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:140984400-140984600	Active TSS	Ovary	ovary

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