Variant report

Variant	nsv436521
Chromosome Location	chr6:110474673-110481401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:110474212..110476243-chr6:110478588..110481984,3	K562	blood:
2	chr6:110474212..110476243-chr6:110478588..110481984,3	K562	blood:

Extended variants
information (count: 162 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542301077	chr6:110474691-110474692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555606134	chr6:110474704-110474705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548389029	chr6:110474709-110474710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184212181	chr6:110474735-110474736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72934088	chr6:110474763-110474764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532817685	chr6:110474776-110474777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527810133	chr6:110474788-110474789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190716374	chr6:110474808-110474809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149674675	chr6:110474887-110474888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111414127	chr6:110474904-110474905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
11	rs578114376	chr6:110474935-110474936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73765670	chr6:110474995-110474996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200326015	chr6:110475007-110475008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548663403	chr6:110475038-110475039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146190071	chr6:110475052-110475053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139165263	chr6:110475071-110475072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547801013	chr6:110475099-110475100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571143495	chr6:110475127-110475128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112041902	chr6:110475220-110475221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182001184	chr6:110475283-110475284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556603786	chr6:110475309-110475310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529738654	chr6:110475310-110475311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543957607	chr6:110475372-110475373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34674239	chr6:110475394-110475395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186215740	chr6:110475409-110475410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146472875	chr6:110475410-110475411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141059344	chr6:110475421-110475422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189130783	chr6:110475433-110475434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73535837	chr6:110475442-110475443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs117500399	chr6:110475447-110475448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181425433	chr6:110475448-110475449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527423988	chr6:110475453-110475454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370979836	chr6:110475540-110475541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543273411	chr6:110475559-110475560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562990534	chr6:110475585-110475586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142215689	chr6:110475603-110475604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542348595	chr6:110475626-110475627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559377172	chr6:110475631-110475632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116791182	chr6:110475667-110475668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547982513	chr6:110475733-110475734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570915026	chr6:110475755-110475756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114540073	chr6:110475767-110475768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56209747	chr6:110475786-110475787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs56287427	chr6:110475792-110475793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs535836337	chr6:110475811-110475812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555611198	chr6:110475915-110475916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185713412	chr6:110475919-110475920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77948076	chr6:110475940-110475941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536221095	chr6:110475960-110475961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557942587	chr6:110475974-110475975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Intellectual disability	22102821	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110444000-110483800	Weak transcription	Fetal Kidney	kidney
2	chr6:110445200-110482400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:110449200-110498600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:110460400-110485400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:110460600-110474800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:110462000-110476400	Weak transcription	Fetal Brain Female	brain
7	chr6:110462200-110476400	Weak transcription	Hela-S3	cervix
8	chr6:110462200-110479800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:110462200-110480200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:110462200-110490000	Weak transcription	Ovary	ovary
11	chr6:110462600-110498800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:110468800-110479600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:110469200-110479800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:110470000-110479800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:110470200-110499400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:110471600-110499600	Weak transcription	Primary B cells from cord blood	blood
17	chr6:110472200-110475600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:110472400-110482400	Weak transcription	NHEK	skin
19	chr6:110474600-110475000	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:110474800-110475000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:110476400-110476600	Enhancers	Hela-S3	cervix
22	chr6:110478400-110491400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:110479400-110479800	Weak transcription	Fetal Brain Female	brain
24	chr6:110479600-110480800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:110479800-110480600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:110479800-110481200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:110479800-110482000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:110480000-110480800	ZNF genes & repeats	Brain Germinal Matrix	brain
29	chr6:110480000-110484200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:110480200-110480400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:110480400-110480600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:110480600-110480800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:110480600-110483600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:110480800-110484800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links