Variant report

Variant	nsv522784
Chromosome Location	chr3:85480724-85507231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:85493785..85495457-chr3:85500033..85502991,2	K562	blood:
2	chr3:85487121..85488806-chr3:85536380..85538383,2	K562	blood:
3	chr3:85468729..85471491-chr3:85479728..85483045,3	K562	blood:
4	chr3:85495270..85496821-chr3:85554377..85556655,2	K562	blood:
5	chr3:85486960..85489003-chr3:85551718..85553697,2	K562	blood:
6	chr3:85503980..85505718-chr3:85553016..85554877,2	K562	blood:
7	chr3:85493785..85495457-chr3:85500033..85502991,2	K562	blood:
8	chr3:85476815..85480076-chr3:85489792..85493283,3	K562	blood:
9	chr3:85503835..85505718-chr3:85553016..85554877,3	K562	blood:
10	chr3:85489023..85491028-chr3:85614972..85617090,2	K562	blood:
11	chr3:85500332..85501905-chr3:85547491..85549616,2	K562	blood:

No data

Extended variants
information (count: 189 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571190993	chr3:85481207-85481208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79240243	chr3:85481227-85481228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199856176	chr3:85481228-85481229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79128136	chr3:85481229-85481230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201116017	chr3:85481255-85481256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180877021	chr3:85481324-85481325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374430316	chr3:85481366-85481367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571270465	chr3:85481386-85481387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1865250	chr3:85481412-85481413	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533809893	chr3:85481414-85481415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568621724	chr3:85481442-85481443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142792106	chr3:85481487-85481488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554739921	chr3:85481498-85481499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9859462	chr3:85481501-85481502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543313520	chr3:85481506-85481507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376537093	chr3:85481543-85481544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146147735	chr3:85481550-85481551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577140061	chr3:85481555-85481556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62250691	chr3:85481557-85481558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562927000	chr3:85481568-85481569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185721694	chr3:85481602-85481603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542386961	chr3:85481629-85481630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140200769	chr3:85481651-85481652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11716233	chr3:85481659-85481660	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546846784	chr3:85481675-85481676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367934446	chr3:85481711-85481712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565037906	chr3:85481716-85481717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191267634	chr3:85481772-85481773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550151917	chr3:85481773-85481774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183501254	chr3:85481813-85481814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113237038	chr3:85481841-85481842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535922196	chr3:85481862-85481863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188552906	chr3:85481865-85481866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567019351	chr3:85481888-85481889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542488753	chr3:85481965-85481966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534150560	chr3:85481968-85481969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1433708	chr3:85481979-85481980	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs143793021	chr3:85481994-85481995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191495266	chr3:85481997-85481998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556591719	chr3:85482012-85482013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145788253	chr3:85482087-85482088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542311494	chr3:85482127-85482128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34044418	chr3:85482180-85482181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73138721	chr3:85482208-85482209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564881548	chr3:85482219-85482220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148563019	chr3:85482252-85482253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35112326	chr3:85482255-85482256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558569499	chr3:85482267-85482268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565129522	chr3:85482283-85482284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9860769	chr3:85482287-85482288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85481200-85482000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:85482000-85482600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:85482400-85482800	Enhancers	Fetal Lung	lung
4	chr3:85482400-85483000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:85482600-85482800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:85485600-85486600	Enhancers	Brain Substantia Nigra	brain
7	chr3:85486000-85486600	Enhancers	Brain Hippocampus Middle	brain
8	chr3:85486200-85486800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:85503800-85504000	Enhancers	Brain Anterior Caudate	brain
10	chr3:85503800-85504800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:85504000-85504600	Weak transcription	Brain Anterior Caudate	brain
12	chr3:85504600-85505000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:85504600-85505000	Enhancers	Brain Germinal Matrix	brain
14	chr3:85504600-85505400	Enhancers	Brain Anterior Caudate	brain
15	chr3:85504800-85505000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:85504800-85505200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:85507200-85507800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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