Variant report

Variant	esv1796017
Chromosome Location	chr3:86549098-86566458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:86558263..86561216-chr3:86563016..86565954,2	K562	blood:
2	chr3:86558263..86561216-chr3:86563016..86565954,2	K562	blood:
3	chr3:86559528..86561860-chr3:86571920..86574418,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143293940	chr3:86551248-86551249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111391639	chr3:86551282-86551283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13433845	chr3:86551288-86551289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs151261674	chr3:86551348-86551349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185048156	chr3:86551361-86551362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569860294	chr3:86551378-86551379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1845433	chr3:86551381-86551382	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1845434	chr3:86551403-86551404	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567219513	chr3:86551444-86551445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187969000	chr3:86551455-86551456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140533004	chr3:86551505-86551506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577594321	chr3:86551612-86551613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538941998	chr3:86551624-86551625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145620301	chr3:86551637-86551638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533285210	chr3:86551651-86551652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192823675	chr3:86551655-86551656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185212481	chr3:86551678-86551679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561547044	chr3:86551700-86551701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372933907	chr3:86551711-86551712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541742842	chr3:86551763-86551764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1494302	chr3:86560619-86560620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113562441	chr3:86560654-86560655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575282613	chr3:86560659-86560660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11923446	chr3:86560727-86560728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574146245	chr3:86560736-86560737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552828073	chr3:86560798-86560799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184337325	chr3:86560820-86560821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55936684	chr3:86560843-86560844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536770229	chr3:86560860-86560861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138706421	chr3:86560868-86560869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188692793	chr3:86560916-86560917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200693170	chr3:86560929-86560930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556500854	chr3:86560934-86560935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79531038	chr3:86560944-86560945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372350284	chr3:86560964-86560965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544001972	chr3:86560989-86560990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113163400	chr3:86561015-86561016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554527019	chr3:86561020-86561021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560934835	chr3:86561021-86561022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540004779	chr3:86561037-86561038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574526186	chr3:86561049-86561050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534538997	chr3:86561073-86561074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17027789	chr3:86561075-86561076	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs372468684	chr3:86561080-86561081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6779242	chr3:86561143-86561144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141158569	chr3:86561144-86561145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373885062	chr3:86561164-86561165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562493482	chr3:86561203-86561204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565569513	chr3:86561213-86561214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150727655	chr3:86561312-86561313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Cancer	20164920	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86551200-86551800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:86560600-86561200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:86560600-86561400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:86561200-86562200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:86562200-86562400	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links