Variant report

Variant	esv3517721
Chromosome Location	chr6:141355308-141380500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:141356659..141359545-chr6:141368726..141370733,2	K562	blood:
2	chr6:141356659..141359545-chr6:141368726..141370733,2	K562	blood:
3	chr6:141368847..141371211-chr6:141441776..141443428,2	K562	blood:

Extended variants
information (count: 439 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534798787	chr6:141355322-141355323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190597488	chr6:141355371-141355372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181008526	chr6:141355439-141355440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542412792	chr6:141355570-141355571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185991606	chr6:141355571-141355572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531123873	chr6:141355659-141355660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572657302	chr6:141355677-141355678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552499111	chr6:141355682-141355683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541511179	chr6:141355836-141355837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556041431	chr6:141355841-141355842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570787119	chr6:141355932-141355933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528500564	chr6:141355946-141355947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546553918	chr6:141355947-141355948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576098952	chr6:141355972-141355973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568560246	chr6:141356013-141356014	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs372980700	chr6:141356046-141356047	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs557707135	chr6:141356048-141356049	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs189063121	chr6:141356107-141356108	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs181332093	chr6:141356111-141356112	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs541610516	chr6:141356126-141356127	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs150723090	chr6:141356183-141356184	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs537231238	chr6:141356185-141356186	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs528957423	chr6:141356196-141356197	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs139530650	chr6:141356225-141356226	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs185545034	chr6:141356333-141356334	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs12211476	chr6:141356340-141356341	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552958796	chr6:141356360-141356361	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs147598010	chr6:141356421-141356422	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs9376563	chr6:141356451-141356452	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563394108	chr6:141356481-141356482	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs575776403	chr6:141356507-141356508	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs141740215	chr6:141356512-141356513	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs571179967	chr6:141356517-141356518	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs34404789	chr6:141356529-141356530	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs377448944	chr6:141356532-141356533	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs72981073	chr6:141356562-141356563	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs546590512	chr6:141356568-141356569	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs117408391	chr6:141356595-141356596	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs371105015	chr6:141356607-141356608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181597312	chr6:141356613-141356614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187393601	chr6:141356617-141356618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537260846	chr6:141356649-141356650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552374539	chr6:141356690-141356691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562829790	chr6:141356742-141356743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567124742	chr6:141356760-141356761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9495886	chr6:141356780-141356781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs9403234	chr6:141356824-141356825	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs28729322	chr6:141356831-141356832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192231991	chr6:141356856-141356857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150047729	chr6:141356871-141356872	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141349400-141356000	Weak transcription	Liver	Liver
2	chr6:141354400-141356600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:141356000-141356200	Flanking Active TSS	Liver	Liver
4	chr6:141356200-141356600	Active TSS	Liver	Liver
5	chr6:141356600-141357200	Enhancers	Liver	Liver
6	chr6:141356600-141357800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:141356800-141357200	Enhancers	Fetal Lung	lung
8	chr6:141359000-141359800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:141362600-141363200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:141362600-141363200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:141362600-141363400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr6:141362600-141363400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:141362800-141363200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:141367400-141367800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:141367800-141372200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:141369600-141370000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:141370000-141370200	Enhancers	Right Atrium	heart
18	chr6:141370000-141371600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:141370000-141372200	Enhancers	Fetal Heart	heart
20	chr6:141370200-141370400	Enhancers	Fetal Lung	lung
21	chr6:141370200-141371800	Weak transcription	Right Atrium	heart
22	chr6:141370600-141370800	Enhancers	Ovary	ovary
23	chr6:141370800-141371800	Weak transcription	Ovary	ovary
24	chr6:141371600-141371800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:141371800-141372400	Enhancers	Right Atrium	heart
26	chr6:141371800-141373000	Enhancers	Ovary	ovary
27	chr6:141372000-141372400	Enhancers	Fetal Lung	lung
28	chr6:141372200-141372400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:141377800-141379200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:141378000-141379000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:141378200-141380200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:141378400-141378800	Enhancers	Fetal Heart	heart
33	chr6:141378400-141379200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:141378400-141379200	Enhancers	Right Atrium	heart
35	chr6:141378400-141379400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr6:141378400-141379800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:141378600-141379000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr6:141378600-141379200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr6:141378600-141379200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:141378600-141379600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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