Variant report

Variant	nsv969329
Chromosome Location	chr6:140002901-140007554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:139696578..139698567-chr6:140007188..140008754,2	K562	blood:
2	chr6:139691601..139696207-chr6:140002143..140005214,4	MCF-7	breast:
3	chr6:140006243..140008697-chr6:140010906..140012705,2	K562	blood:

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 201 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369738252	chr6:140002901-140002902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs532904499	chr6:140002982-140002983	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs143538512	chr6:140002986-140002987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs529698558	chr6:140003108-140003109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559900980	chr6:140003119-140003120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375909620	chr6:140003131-140003132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371053113	chr6:140003150-140003151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566008953	chr6:140003151-140003152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs539190691	chr6:140003172-140003173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs60607464	chr6:140003210-140003211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs56762252	chr6:140003214-140003215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567259195	chr6:140003243-140003244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34699975	chr6:140003244-140003245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549587452	chr6:140003268-140003269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569431746	chr6:140003276-140003277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190469612	chr6:140003285-140003286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528314443	chr6:140003300-140003301	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554280669	chr6:140003301-140003302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565936082	chr6:140003320-140003321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372201388	chr6:140003321-140003322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4896487	chr6:140003323-140003324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs180865895	chr6:140003325-140003326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs537611390	chr6:140003327-140003328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs59676749	chr6:140003333-140003334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs56006326	chr6:140003336-140003337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs553058700	chr6:140003347-140003348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs367641498	chr6:140003348-140003349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544776041	chr6:140003363-140003364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs183963102	chr6:140003369-140003370	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs150698833	chr6:140003370-140003371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542234226	chr6:140003372-140003373	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188248029	chr6:140003380-140003381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs139966105	chr6:140003386-140003387	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs6934823	chr6:140003390-140003391	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs181369572	chr6:140003393-140003394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185595348	chr6:140003395-140003396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs144783080	chr6:140003400-140003401	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs566199042	chr6:140003406-140003407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs59972196	chr6:140003411-140003412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs60718168	chr6:140003414-140003415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181636800	chr6:140003421-140003422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs544634096	chr6:140003426-140003427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559241757	chr6:140003430-140003431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577346962	chr6:140003432-140003433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs544843204	chr6:140003453-140003454	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs564725303	chr6:140003468-140003469	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553555339	chr6:140003474-140003475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533109354	chr6:140003505-140003506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571829618	chr6:140003567-140003568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542169612	chr6:140003573-140003574	Weak transcription	Chromatin interactive region	1 gene(s)	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
Breast cancer	21785460	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 myeloid leukemia	21251322	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

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140001400-140007200	Weak transcription	Liver	Liver
2	chr6:140002400-140005800	Weak transcription	Fetal Heart	heart
3	chr6:140005600-140005800	Enhancers	Right Atrium	heart
4	chr6:140005800-140006600	Enhancers	Fetal Heart	heart
5	chr6:140005800-140006600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr6:140005800-140008800	Weak transcription	Right Atrium	heart
7	chr6:140006000-140006400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:140006000-140007600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:140006000-140009000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:140006200-140006600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:140006600-140007600	Weak transcription	Fetal Heart	heart
12	chr6:140006600-140007800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:140007200-140007400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:140007200-140007800	Enhancers	Liver	Liver
15	chr6:140007200-140007800	Enhancers	Psoas Muscle	Psoas
16	chr6:140007200-140008400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:140007400-140008200	Enhancers	K562	blood
18	chr6:140007400-140008800	Enhancers	Adipose Nuclei	Adipose

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