Variant report

Variant	nsv1024434
Chromosome Location	chr6:141301526-141326133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:141314907..141317721-chr6:141319915..141321447,2	K562	blood:
2	chr6:141324954..141326818-chr6:141329009..141331828,2	K562	blood:
3	chr6:141314907..141317721-chr6:141319915..141321447,2	K562	blood:

Extended variants
information (count: 518 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1832449	chr6:141301526-141301527	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180674335	chr6:141301587-141301588	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1832448	chr6:141301609-141301610	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529291717	chr6:141301610-141301611	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550744568	chr6:141301665-141301666	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573076397	chr6:141301669-141301670	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139281135	chr6:141301679-141301680	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372613469	chr6:141301706-141301707	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375519860	chr6:141301735-141301736	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1832447	chr6:141301761-141301762	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570333491	chr6:141301764-141301765	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534474186	chr6:141301771-141301772	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569187954	chr6:141301772-141301773	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574342882	chr6:141301852-141301853	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371513464	chr6:141301854-141301855	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542100999	chr6:141301859-141301860	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369761206	chr6:141301874-141301875	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556718749	chr6:141301966-141301967	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575157126	chr6:141301983-141301984	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545604300	chr6:141301990-141301991	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144113602	chr6:141302105-141302106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186739753	chr6:141302117-141302118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74837391	chr6:141302118-141302119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13204670	chr6:141302121-141302122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9389841	chr6:141302171-141302172	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529600252	chr6:141302180-141302181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563563976	chr6:141302202-141302203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551239613	chr6:141302210-141302211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190201207	chr6:141302229-141302230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375662300	chr6:141302269-141302270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540406186	chr6:141302271-141302272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533329501	chr6:141302276-141302277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551473584	chr6:141302277-141302278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183146395	chr6:141302295-141302296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534510389	chr6:141302301-141302302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146516754	chr6:141302337-141302338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568232131	chr6:141302370-141302371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535414099	chr6:141302481-141302482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9376556	chr6:141302530-141302531	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs139975383	chr6:141302533-141302534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539379720	chr6:141302540-141302541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557889957	chr6:141302560-141302561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573021238	chr6:141302566-141302567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540321512	chr6:141302570-141302571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9399342	chr6:141302593-141302594	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7745201	chr6:141302656-141302657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7744894	chr6:141302676-141302677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145470540	chr6:141302681-141302682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7745333	chr6:141302682-141302683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs186017016	chr6:141302702-141302703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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	22037309	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141300400-141302000	Enhancers	HUVEC	blood vessel
2	chr6:141300600-141301800	Enhancers	Colon Smooth Muscle	Colon
3	chr6:141300600-141302000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:141300800-141301600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:141300800-141301600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr6:141300800-141301600	Active TSS	Aorta	Aorta
7	chr6:141300800-141301600	Enhancers	Fetal Heart	heart
8	chr6:141300800-141301600	Enhancers	Stomach Smooth Muscle	stomach
9	chr6:141300800-141301600	Flanking Active TSS	Osteobl	bone
10	chr6:141300800-141301800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:141300800-141302000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:141300800-141302000	Enhancers	Right Atrium	heart
13	chr6:141300800-141302000	Enhancers	NHDF-Ad	bronchial
14	chr6:141300800-141302000	Enhancers	NHLF	lung
15	chr6:141301000-141301600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:141301000-141301600	Enhancers	Adipose Nuclei	Adipose
17	chr6:141301000-141301600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr6:141301200-141301600	Enhancers	Fetal Kidney	kidney
19	chr6:141301200-141301600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr6:141301200-141301600	Active TSS	Psoas Muscle	Psoas
21	chr6:141301200-141302000	Enhancers	NH-A	brain
22	chr6:141301200-141310000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr6:141301400-141301600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:141301400-141301600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr6:141301400-141301600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr6:141301400-141302000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:141301400-141302000	Enhancers	HSMMtube	muscle
28	chr6:141301600-141302000	Enhancers	Aorta	Aorta
29	chr6:141301600-141302200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:141301600-141302400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:141301600-141302400	Enhancers	Osteobl	bone
32	chr6:141301600-141306600	Weak transcription	Fetal Heart	heart
33	chr6:141301600-141306600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:141301800-141302600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:141301800-141307000	Weak transcription	Colon Smooth Muscle	Colon
36	chr6:141302000-141302400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:141302000-141306600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:141302000-141308200	Weak transcription	Aorta	Aorta
39	chr6:141302400-141306800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:141306600-141306800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr6:141306600-141307000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:141306600-141307200	Enhancers	Fetal Lung	lung
43	chr6:141306600-141308200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr6:141306600-141310200	Enhancers	Fetal Heart	heart
45	chr6:141306800-141307200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:141307000-141307200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:141307000-141308600	Enhancers	Colon Smooth Muscle	Colon
48	chr6:141307200-141307600	Weak transcription	Fetal Lung	lung
49	chr6:141307200-141307800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:141307200-141309000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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