Variant report

Variant	nsv603134
Chromosome Location	chr6:54841672-54851340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 265 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368607711	chr6:54845003-54845004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570049032	chr6:54845016-54845017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536149499	chr6:54845033-54845034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148679549	chr6:54845034-54845035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555390857	chr6:54845054-54845055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563465040	chr6:54845066-54845067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534823158	chr6:54845077-54845078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557905778	chr6:54845117-54845118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577740726	chr6:54845124-54845125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543634319	chr6:54845141-54845142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs36030916	chr6:54845145-54845146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs370757489	chr6:54845165-54845166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574028856	chr6:54845210-54845211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556819005	chr6:54845240-54845241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62416541	chr6:54845284-54845285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186147942	chr6:54845295-54845296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532688218	chr6:54845312-54845313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544801359	chr6:54845313-54845314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191120664	chr6:54845339-54845340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576856076	chr6:54845341-54845342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533348475	chr6:54845351-54845352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs151187594	chr6:54845361-54845362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141304638	chr6:54845374-54845375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529550825	chr6:54845387-54845388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143731755	chr6:54845395-54845396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7752353	chr6:54845396-54845397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535045588	chr6:54845434-54845435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557951827	chr6:54845473-54845474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10948879	chr6:54845489-54845490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536849078	chr6:54845533-54845534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35619856	chr6:54845563-54845564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557195659	chr6:54845571-54845572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368696649	chr6:54845581-54845582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573942905	chr6:54845643-54845644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372328762	chr6:54845654-54845655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565497836	chr6:54845656-54845657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113273956	chr6:54845691-54845692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542959932	chr6:54845694-54845695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552977086	chr6:54845722-54845723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140559421	chr6:54845798-54845799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183383818	chr6:54845811-54845812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564822228	chr6:54845823-54845824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374842405	chr6:54845828-54845829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188370168	chr6:54845853-54845854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543564910	chr6:54845858-54845859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563554176	chr6:54845893-54845894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112422311	chr6:54845910-54845911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192323004	chr6:54845911-54845912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143957381	chr6:54845926-54845927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540957169	chr6:54845952-54845953	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54845000-54847000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:54845400-54846000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:54845400-54846600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:54845400-54847200	Enhancers	HMEC	breast
5	chr6:54845400-54847200	Enhancers	NHEK	skin
6	chr6:54845600-54846200	Enhancers	Hela-S3	cervix
7	chr6:54845600-54846800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:54845600-54846800	Enhancers	NHLF	lung
9	chr6:54845600-54847000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:54845800-54847000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:54845800-54847000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:54846000-54846400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:54846400-54846800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:54846400-54847000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:54846600-54847000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:54847000-54847400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:54847000-54854800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:54847000-54856800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:54847200-54847600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:54847200-54847600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:54847600-54848000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:54847600-54848200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links