Variant report

Variant	nsv970647
Chromosome Location	chr6:48679446-48684158
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	chr6:48677900..48680062-chr6:48689263..48690810,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552432625	chr6:48681415-48681416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541499528	chr6:48681422-48681423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560089441	chr6:48681441-48681442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565727446	chr6:48681444-48681445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145522000	chr6:48681463-48681464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571530658	chr6:48681492-48681493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532525125	chr6:48681506-48681507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189438199	chr6:48681534-48681535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550873740	chr6:48681553-48681554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569492583	chr6:48681627-48681628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536950038	chr6:48681658-48681659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548321518	chr6:48681696-48681697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180863839	chr6:48681766-48681767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534304660	chr6:48681772-48681773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559065368	chr6:48681777-48681778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73486407	chr6:48681791-48681792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537996302	chr6:48681809-48681810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534910679	chr6:48681843-48681844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563719307	chr6:48681845-48681846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556313010	chr6:48681859-48681860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574687897	chr6:48681888-48681889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184746364	chr6:48681920-48681921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548760007	chr6:48681931-48681932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2495919	chr6:48681963-48681964	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571671287	chr6:48682010-48682011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534837061	chr6:48682019-48682020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147722822	chr6:48682042-48682043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113611580	chr6:48682181-48682182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189516348	chr6:48682209-48682210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73486408	chr6:48682225-48682226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530360901	chr6:48682258-48682259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548830154	chr6:48682271-48682272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566773511	chr6:48682286-48682287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116694636	chr6:48682358-48682359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181504088	chr6:48682465-48682466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570997833	chr6:48682494-48682495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538336583	chr6:48682523-48682524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186044900	chr6:48682530-48682531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574556983	chr6:48682568-48682569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535398575	chr6:48682577-48682578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557668944	chr6:48682657-48682658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553990153	chr6:48682689-48682690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9463437	chr6:48682769-48682770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545436285	chr6:48682775-48682776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563738299	chr6:48682833-48682834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575761367	chr6:48682857-48682858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566114256	chr6:48682861-48682862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191759447	chr6:48682907-48682908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562958189	chr6:48682909-48682910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181364005	chr6:48682921-48682922	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48681400-48682200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:48681400-48682400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:48681400-48682600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr6:48681400-48682800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:48681800-48682200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:48681800-48682800	Enhancers	Brain Germinal Matrix	brain
7	chr6:48682200-48683400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:48683600-48683800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links