Variant report

Variant	esv3379572
Chromosome Location	chr6:48526443-48528341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149939941	chr6:48526465-48526466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145008715	chr6:48526523-48526524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576521744	chr6:48526545-48526546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540137751	chr6:48526566-48526567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564497606	chr6:48526569-48526570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201847008	chr6:48526590-48526591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532018997	chr6:48526637-48526638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74952137	chr6:48526679-48526680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191294315	chr6:48526680-48526681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73739327	chr6:48526682-48526683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs549521540	chr6:48526724-48526725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9395367	chr6:48526754-48526755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182929181	chr6:48526827-48526828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547327495	chr6:48526832-48526833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571661627	chr6:48526846-48526847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187136624	chr6:48526925-48526926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144886868	chr6:48526943-48526944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551006305	chr6:48526993-48526994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569371289	chr6:48526997-48526998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571156963	chr6:48527086-48527087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35827654	chr6:48527102-48527103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375625015	chr6:48527118-48527119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191281107	chr6:48527124-48527125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114336284	chr6:48527167-48527168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572709123	chr6:48527201-48527202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116446885	chr6:48527202-48527203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574755810	chr6:48527228-48527229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35163598	chr6:48527233-48527234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572864886	chr6:48527256-48527257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558468343	chr6:48527267-48527268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576408443	chr6:48527294-48527295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571924048	chr6:48527296-48527297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375982277	chr6:48527312-48527313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562360988	chr6:48527373-48527374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529767980	chr6:48527449-48527450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183772658	chr6:48527471-48527472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561427669	chr6:48527479-48527480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187558235	chr6:48527520-48527521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138179410	chr6:48527523-48527524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3010534	chr6:48527525-48527526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs73475839	chr6:48527588-48527589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs141259990	chr6:48527621-48527622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559032834	chr6:48527646-48527647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577555680	chr6:48527660-48527661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145053677	chr6:48527673-48527674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111351772	chr6:48527676-48527677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554804226	chr6:48527678-48527679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555453301	chr6:48527688-48527689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143232650	chr6:48527710-48527711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193097764	chr6:48527732-48527733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Melanoma	18172304	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
Hodgkin''s lymphoma	17606441	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
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	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
Bladder cancer	21909424	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48522000-48527600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:48525400-48526600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:48526600-48531200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:48527600-48528400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:48527600-48528600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:48527800-48528200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:48527800-48528600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:48527800-48528600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:48527800-48528600	Enhancers	NHEK	skin
10	chr6:48528000-48528400	Enhancers	HMEC	breast
11	chr6:48528000-48528600	Enhancers	HUVEC	blood vessel
12	chr6:48528000-48528600	Enhancers	Osteobl	bone
13	chr6:48528200-48531200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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