Variant report

Variant	nsv1024096
Chromosome Location	chr6:140870398-140927014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:140919683..140922477-chr6:140922951..140925065,2	K562	blood:
2	chr6:140905427..140908857-chr6:140910975..140913769,3	K562	blood:
3	chr6:140919169..140921783-chr6:140922844..140925130,2	MCF-7	breast:
4	chr6:140781738..140784199-chr6:140901701..140903255,2	MCF-7	breast:
5	chr6:140874402..140877217-chr6:140878375..140880350,3	K562	blood:
6	chr6:140905860..140907615-chr6:140923172..140925767,2	K562	blood:
7	chr6:140905860..140907615-chr6:140923172..140925767,2	K562	blood:
8	chr6:140874402..140877217-chr6:140878375..140880350,3	K562	blood:
9	chr6:140919683..140922477-chr6:140922951..140925065,2	K562	blood:
10	chr6:140912649..140915188-chr6:140915453..140918177,2	K562	blood:
11	chr6:140912649..140915188-chr6:140915453..140918177,2	K562	blood:
12	chr6:140905427..140908857-chr6:140910975..140913769,3	K562	blood:
13	chr6:140919169..140921783-chr6:140922844..140925130,2	MCF-7	breast:

No data

Extended variants
information (count: 1264 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1264 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570591744	chr6:140870513-140870514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs55799782	chr6:140870529-140870530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534527549	chr6:140870531-140870532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553259297	chr6:140870533-140870534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138370517	chr6:140870578-140870579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148859886	chr6:140870579-140870580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143480315	chr6:140870580-140870581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148356931	chr6:140870581-140870582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542187340	chr6:140870694-140870695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532947713	chr6:140870696-140870697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193088662	chr6:140870699-140870700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543489047	chr6:140870747-140870748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371941115	chr6:140870748-140870749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185734998	chr6:140870759-140870760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376900055	chr6:140870784-140870785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564040008	chr6:140870787-140870788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190478416	chr6:140870808-140870809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138272643	chr6:140870840-140870841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561990125	chr6:140870931-140870932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569365628	chr6:140870941-140870942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529532959	chr6:140870950-140870951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180932310	chr6:140871047-140871048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115979316	chr6:140871091-140871092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183684766	chr6:140871141-140871142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551811735	chr6:140871158-140871159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145078951	chr6:140871197-140871198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138650629	chr6:140871262-140871263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562803219	chr6:140871274-140871275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149306012	chr6:140871295-140871296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117151374	chr6:140871313-140871314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535723093	chr6:140871393-140871394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67394590	chr6:140872641-140872642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12196500	chr6:140872670-140872671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35427566	chr6:140872673-140872674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533552157	chr6:140872688-140872689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554998568	chr6:140872709-140872710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57846554	chr6:140872718-140872719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144301648	chr6:140872782-140872783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542414044	chr6:140875444-140875445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560968799	chr6:140875446-140875447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576273805	chr6:140875469-140875470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186219240	chr6:140875500-140875501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9373282	chr6:140875501-140875502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs532165796	chr6:140875512-140875513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144182740	chr6:140875522-140875523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559493541	chr6:140875560-140875561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78711920	chr6:140875561-140875562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548792830	chr6:140875574-140875575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570189750	chr6:140875578-140875579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537729462	chr6:140875585-140875586	Enhancers	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	21293372	CNVD

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140860600-140870800	Weak transcription	Osteobl	bone
2	chr6:140868200-140871400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:140872600-140872800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:140875400-140875800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:140875400-140875800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:140875400-140876000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:140875400-140876200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:140875400-140876200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:140875400-140876200	Enhancers	HMEC	breast
10	chr6:140875400-140876200	Enhancers	NHEK	skin
11	chr6:140875600-140875800	Enhancers	Aorta	Aorta
12	chr6:140875600-140876200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:140881200-140881800	Enhancers	HSMM	muscle
14	chr6:140881800-140883800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:140883200-140883400	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr6:140883800-140887600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:140885400-140887000	Weak transcription	NHDF-Ad	bronchial
18	chr6:140886400-140886800	Enhancers	HSMMtube	muscle
19	chr6:140886600-140886800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr6:140886600-140887600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:140886800-140887000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr6:140886800-140887200	Weak transcription	HSMMtube	muscle
23	chr6:140887000-140887400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr6:140887000-140888200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:140887000-140888800	Enhancers	Adipose Nuclei	Adipose
26	chr6:140887000-140888800	Enhancers	NHDF-Ad	bronchial
27	chr6:140887000-140889000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr6:140887000-140889000	Enhancers	Fetal Heart	heart
29	chr6:140887000-140889000	Enhancers	HUVEC	blood vessel
30	chr6:140887000-140889200	Enhancers	Osteobl	bone
31	chr6:140887000-140889400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:140887200-140888200	Enhancers	HSMMtube	muscle
33	chr6:140887400-140887800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:140887400-140888000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:140887400-140888200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:140887400-140889000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:140887400-140889000	Enhancers	Rectal Smooth Muscle	rectum
38	chr6:140887400-140889200	Enhancers	Hela-S3	cervix
39	chr6:140887400-140889200	Enhancers	HSMM	muscle
40	chr6:140887600-140888400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr6:140887600-140888400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:140887600-140888400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr6:140887600-140888400	Enhancers	HMEC	breast
44	chr6:140887600-140888800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:140887600-140888800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:140887600-140888800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:140887600-140888800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:140887600-140888800	Enhancers	Colon Smooth Muscle	Colon
49	chr6:140887600-140888800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr6:140887600-140888800	Enhancers	NH-A	brain

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