Variant report

Variant	esv3394063
Chromosome Location	chr6:140944259-140947157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190227285	chr6:140944275-140944276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201506207	chr6:140944304-140944305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370368166	chr6:140944393-140944394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569456050	chr6:140944421-140944422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373637879	chr6:140944487-140944488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540053088	chr6:140944495-140944496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570080221	chr6:140944505-140944506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142684578	chr6:140944545-140944546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376901100	chr6:140944594-140944595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370275430	chr6:140944647-140944648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533898542	chr6:140944658-140944659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182937637	chr6:140944664-140944665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535884642	chr6:140944735-140944736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529331929	chr6:140944751-140944752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573747037	chr6:140944755-140944756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374954014	chr6:140944774-140944775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151013347	chr6:140944777-140944778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549093487	chr6:140944802-140944803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562680413	chr6:140944807-140944808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188829419	chr6:140944831-140944832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545615348	chr6:140944851-140944852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531769150	chr6:140944861-140944862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139788920	chr6:140944868-140944869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549087846	chr6:140944870-140944871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546620119	chr6:140944876-140944877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561701955	chr6:140944900-140944901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528929056	chr6:140944945-140944946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550660799	chr6:140944955-140944956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568994090	chr6:140944983-140944984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143191235	chr6:140944989-140944990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146685490	chr6:140945052-140945053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566991919	chr6:140945067-140945068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571910908	chr6:140945070-140945071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534501394	chr6:140945126-140945127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555817065	chr6:140945197-140945198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113437693	chr6:140945221-140945222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537867055	chr6:140945222-140945223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556213808	chr6:140945261-140945262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577719335	chr6:140945285-140945286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9389815	chr6:140945378-140945379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191574661	chr6:140945403-140945404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368623981	chr6:140945436-140945437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184067348	chr6:140945464-140945465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561848747	chr6:140945487-140945488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528866200	chr6:140945510-140945511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544229007	chr6:140945568-140945569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375426386	chr6:140945630-140945631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562525596	chr6:140945661-140945662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533048205	chr6:140945695-140945696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551232817	chr6:140945715-140945716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140930400-140947200	Weak transcription	Placenta	Placenta
2	chr6:140936800-140945000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:140942200-140945400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:140944200-140945000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:140944400-140945200	Enhancers	NHEK	skin
6	chr6:140944400-140945400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:140944400-140945400	Enhancers	HSMM	muscle
8	chr6:140944600-140945600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:140944800-140945000	Enhancers	NH-A	brain
10	chr6:140944800-140945400	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr6:140944800-140945400	Enhancers	Fetal Lung	lung
12	chr6:140944800-140945600	Enhancers	Ovary	ovary
13	chr6:140944800-140945600	Enhancers	HMEC	breast
14	chr6:140945000-140945600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:140945000-140946600	Weak transcription	NH-A	brain
16	chr6:140945400-140945600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:140945600-140946200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:140945600-140946600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:140946200-140946400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:140946600-140948600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:140947000-140948200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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