Variant report

Variant	esv3473392
Chromosome Location	chr6:133743959-133749357
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	chr6:133746912..133749125-chr6:133760477..133762589,2	K562	blood:

Variant related genes	Relation type
ENSG00000223542	chromatin interactions

Extended variants
information (count: 216 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:216 , 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	rs574949301	chr6:133743967-133743968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560271255	chr6:133744040-133744041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527714611	chr6:133744069-133744070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148288918	chr6:133744071-133744072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183251033	chr6:133744084-133744085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141478109	chr6:133744135-133744136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188813610	chr6:133744149-133744150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534483745	chr6:133744155-133744156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146324524	chr6:133744177-133744178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376130702	chr6:133744203-133744204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552765041	chr6:133744215-133744216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576564413	chr6:133744270-133744271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542382181	chr6:133744298-133744299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560666945	chr6:133744316-133744317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34761236	chr6:133744331-133744332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139599321	chr6:133744347-133744348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546285809	chr6:133744403-133744404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559756748	chr6:133744424-133744425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532091814	chr6:133744430-133744431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551756705	chr6:133744435-133744436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9402510	chr6:133744451-133744452	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537207123	chr6:133744526-133744527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569103084	chr6:133744532-133744533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531420065	chr6:133744588-133744589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367688517	chr6:133744663-133744664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535181987	chr6:133744771-133744772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548397823	chr6:133744827-133744828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146120685	chr6:133744848-133744849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534339233	chr6:133744858-133744859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551054942	chr6:133744863-133744864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114760271	chr6:133744889-133744890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570871153	chr6:133744929-133744930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191777430	chr6:133744934-133744935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556600692	chr6:133744955-133744956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs212784	chr6:133744974-133744975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542135333	chr6:133745000-133745001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555586236	chr6:133745001-133745002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182786913	chr6:133745006-133745007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186742431	chr6:133745068-133745069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376684149	chr6:133745081-133745082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6899927	chr6:133745147-133745148	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs202054029	chr6:133745161-133745162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532030128	chr6:133745202-133745203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116024493	chr6:133745290-133745291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562326476	chr6:133745343-133745344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531663308	chr6:133745386-133745387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548502158	chr6:133745401-133745402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114157717	chr6:133745409-133745410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545518293	chr6:133745450-133745451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112945320	chr6:133745459-133745460	Weak transcription 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
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:38 , 50 per page) page: 1

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	chr6:133732000-133744000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:133732600-133758200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:133735400-133744000	Weak transcription	Left Ventricle	heart
7	chr6:133736400-133752200	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:133737400-133746800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:133742400-133745200	Weak transcription	Pancreas	Pancrea
10	chr6:133742400-133745400	Weak transcription	Psoas Muscle	Psoas
11	chr6:133742400-133745800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr6:133744000-133744200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr6:133744000-133744200	Enhancers	Gastric	stomach
14	chr6:133744000-133744200	Enhancers	Left Ventricle	heart
15	chr6:133744000-133744400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:133744000-133748000	Enhancers	Liver	Liver
17	chr6:133744200-133745200	Weak transcription	Gastric	stomach
18	chr6:133744400-133752400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:133745000-133746200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:133745200-133745400	Enhancers	Right Ventricle	heart
21	chr6:133745200-133746000	Enhancers	Gastric	stomach
22	chr6:133745200-133746000	Enhancers	Pancreas	Pancrea
23	chr6:133745400-133745600	Enhancers	Fetal Muscle Trunk	muscle
24	chr6:133745400-133746000	Enhancers	Psoas Muscle	Psoas
25	chr6:133745400-133747400	Weak transcription	Right Ventricle	heart
26	chr6:133745600-133746000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr6:133745800-133748000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr6:133746000-133747000	Weak transcription	Psoas Muscle	Psoas
29	chr6:133746000-133747200	Weak transcription	Gastric	stomach
30	chr6:133746000-133753200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr6:133746800-133748200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr6:133747000-133748000	Enhancers	Psoas Muscle	Psoas
33	chr6:133747200-133747400	Enhancers	Gastric	stomach
34	chr6:133748000-133752000	Weak transcription	Psoas Muscle	Psoas
35	chr6:133748000-133752000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:133748200-133752200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:133748400-133749800	Enhancers	Hela-S3	cervix
38	chr6:133749200-133749800	Enhancers	Fetal Heart	heart

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