Variant report

Variant	nsv604700
Chromosome Location	chr6:133732404-133746497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 513 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:513 , 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	rs11965224	chr6:133732404-133732405	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11962647	chr6:133732409-133732410	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184810164	chr6:133732439-133732440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572392308	chr6:133732542-133732543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534978792	chr6:133732555-133732556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145882080	chr6:133732593-133732594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566493775	chr6:133732604-133732605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577885264	chr6:133732620-133732621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11963218	chr6:133732629-133732630	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs563572527	chr6:133732671-133732672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573873166	chr6:133732691-133732692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200888405	chr6:133732695-133732696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146908036	chr6:133732701-133732702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34929281	chr6:133732702-133732703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541605761	chr6:133732703-133732704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs211600	chr6:133732704-133732705	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs201694991	chr6:133732718-133732719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56241016	chr6:133732729-133732730	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556472511	chr6:133732735-133732736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564388134	chr6:133732841-133732842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533299727	chr6:133732876-133732877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs211598	chr6:133732908-133732909	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569913340	chr6:133732920-133732921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535631282	chr6:133732938-133732939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549222508	chr6:133732959-133732960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114146371	chr6:133732993-133732994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140713631	chr6:133733001-133733002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114443886	chr6:133733030-133733031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76147185	chr6:133733043-133733044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73561724	chr6:133733116-133733117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576406225	chr6:133733144-133733145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145296329	chr6:133733157-133733158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73776034	chr6:133733159-133733160	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539764425	chr6:133733214-133733215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560460366	chr6:133733254-133733255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543165081	chr6:133733262-133733263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181429181	chr6:133733280-133733281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184455796	chr6:133733303-133733304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540754038	chr6:133733317-133733318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564099228	chr6:133733318-133733319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189282087	chr6:133733426-133733427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532956100	chr6:133733502-133733503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79507446	chr6:133733509-133733510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563536362	chr6:133733514-133733515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529083696	chr6:133733545-133733546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs137858749	chr6:133733604-133733605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142467526	chr6:133733641-133733642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528618520	chr6:133733646-133733647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9493618	chr6:133733647-133733648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs74479039	chr6:133733660-133733661	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
Colorectal cancer	16272173	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
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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133720200-133748400	Weak transcription	Hela-S3	cervix
2	chr6:133720400-133749600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:133726600-133752200	Weak transcription	Right Atrium	heart
4	chr6:133729400-133734000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:133729400-133736600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:133730200-133733800	Weak transcription	Psoas Muscle	Psoas
7	chr6:133731200-133732600	Enhancers	A549	lung
8	chr6:133731200-133733200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:133731400-133732600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:133731400-133732800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:133731800-133732600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:133731800-133732600	Enhancers	Left Ventricle	heart
13	chr6:133731800-133732600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:133731800-133733400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr6:133732000-133733000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:133732000-133744000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:133732200-133733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:133732200-133740000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:133732400-133732600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:133732400-133733200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:133732400-133733200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr6:133732400-133733600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:133732400-133736200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:133732600-133733000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:133732600-133733000	Weak transcription	A549	lung
26	chr6:133732600-133735200	Weak transcription	Left Ventricle	heart
27	chr6:133732600-133736400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:133732600-133758200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:133733000-133733200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:133733000-133733200	Enhancers	Fetal Heart	heart
31	chr6:133733000-133733200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:133733000-133733200	Enhancers	A549	lung
33	chr6:133733000-133733400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:133733200-133735200	Weak transcription	A549	lung
35	chr6:133733200-133735400	Weak transcription	Fetal Heart	heart
36	chr6:133733200-133736200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:133733400-133735200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:133733800-133734200	Enhancers	Psoas Muscle	Psoas
39	chr6:133734000-133734200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:133734200-133740800	Weak transcription	Psoas Muscle	Psoas
41	chr6:133735200-133735400	Enhancers	Left Ventricle	heart
42	chr6:133735200-133735800	Enhancers	A549	lung
43	chr6:133735400-133735600	Enhancers	Fetal Heart	heart
44	chr6:133735400-133744000	Weak transcription	Left Ventricle	heart
45	chr6:133735600-133736400	Weak transcription	Fetal Heart	heart
46	chr6:133735600-133736400	Enhancers	Fetal Muscle Leg	muscle
47	chr6:133735800-133738000	Weak transcription	A549	lung
48	chr6:133736200-133736400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr6:133736200-133736600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:133736200-133737200	Enhancers	Skeletal Muscle Female	skeletal muscle

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