Variant report

Variant	esv21028
Chromosome Location	chr3:86848288-86855189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHMP2B-4	chr3:86851058-86851827	l_2406_chr3:86790895-86851827_testes
2	lnc-CHMP2B-4	chr3:86849266-86849367	l_2406_chr3:86790895-86851827_testes

Extended variants
information (count: 286 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:286 , 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	rs576954084	chr3:86848326-86848327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543936147	chr3:86848421-86848422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113963822	chr3:86848432-86848433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568954791	chr3:86848499-86848500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529184316	chr3:86848516-86848517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56938004	chr3:86848530-86848531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529706300	chr3:86848546-86848547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541435013	chr3:86848574-86848575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371957807	chr3:86848614-86848615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559848551	chr3:86848620-86848621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183797476	chr3:86848621-86848622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552586862	chr3:86848638-86848639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189291518	chr3:86848649-86848650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72910495	chr3:86848658-86848659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550372860	chr3:86848681-86848682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568581769	chr3:86848698-86848699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535907336	chr3:86848707-86848708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376989832	chr3:86848723-86848724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547813776	chr3:86848750-86848751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9850281	chr3:86848765-86848766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528209891	chr3:86848790-86848791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534134617	chr3:86848801-86848802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551415218	chr3:86848803-86848804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377076155	chr3:86848806-86848807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150550950	chr3:86848833-86848834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576996004	chr3:86848856-86848857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181988219	chr3:86848872-86848873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112926394	chr3:86848948-86848949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185191650	chr3:86848974-86848975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546928619	chr3:86848975-86848976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190074478	chr3:86849016-86849017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145416593	chr3:86849060-86849061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369608122	chr3:86849120-86849121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34274560	chr3:86849128-86849129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571933914	chr3:86849148-86849149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373246594	chr3:86849152-86849153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181147636	chr3:86849171-86849172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537090767	chr3:86849219-86849220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186374272	chr3:86849239-86849240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189651389	chr3:86849243-86849244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562214119	chr3:86849265-86849266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116276442	chr3:86849313-86849314	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs560401467	chr3:86849369-86849370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72910498	chr3:86849374-86849375	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs180863484	chr3:86849395-86849396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539427601	chr3:86849405-86849406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551723616	chr3:86849406-86849407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs956677	chr3:86849412-86849413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185464559	chr3:86849481-86849482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1437048	chr3:86849502-86849503	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86836600-86864400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:86844000-86849400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:86844600-86849400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:86844600-86849600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:86844600-86850800	Weak transcription	HSMM	muscle
6	chr3:86844800-86849000	Weak transcription	NHDF-Ad	bronchial
7	chr3:86847200-86848400	Enhancers	Osteobl	bone
8	chr3:86848200-86848800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:86848200-86850800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:86848400-86849400	Weak transcription	Osteobl	bone
11	chr3:86848800-86849200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:86849000-86852000	Enhancers	NHDF-Ad	bronchial
13	chr3:86849200-86849400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:86849400-86849800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:86849400-86849800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:86849400-86849800	Enhancers	HSMMtube	muscle
17	chr3:86849400-86849800	Enhancers	Osteobl	bone
18	chr3:86849400-86851800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:86849600-86849800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:86849600-86849800	Enhancers	Pancreas	Pancrea
21	chr3:86849800-86851000	Weak transcription	Osteobl	bone
22	chr3:86849800-86852800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:86850800-86851600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:86850800-86851600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr3:86850800-86852000	Enhancers	HSMM	muscle
26	chr3:86851000-86851600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:86851000-86851800	Enhancers	Osteobl	bone
28	chr3:86852000-86854400	Weak transcription	NHDF-Ad	bronchial
29	chr3:86852800-86853000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:86854600-86854800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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