Variant report

Variant	nsv1008177
Chromosome Location	chr3:86841615-86905761
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	chr3:86849266-86849367	l_2406_chr3:86790895-86851827_testes
2	lnc-CHMP2B-4	chr3:86851058-86851827	l_2406_chr3:86790895-86851827_testes
3	lnc-CHMP2B-4	chr3:86843464-86843628	l_2406_chr3:86790895-86851827_testes

Extended variants
information (count: 2132 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2132 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181980721	chr3:86841635-86841636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149397910	chr3:86841711-86841712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533846681	chr3:86841723-86841724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377219609	chr3:86841776-86841777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78745947	chr3:86841802-86841803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553605573	chr3:86841804-86841805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185765728	chr3:86841834-86841835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370709837	chr3:86841851-86841852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535909558	chr3:86841883-86841884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4572769	chr3:86841899-86841900	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540570662	chr3:86841939-86841940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71630176	chr3:86841947-86841948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141003144	chr3:86841951-86841952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151169157	chr3:86841955-86841956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200376053	chr3:86841956-86841957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150209845	chr3:86841974-86841975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs397875687	chr3:86841984-86841985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201406725	chr3:86842004-86842005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200642761	chr3:86842012-86842013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556308590	chr3:86842037-86842038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs58091961	chr3:86842051-86842052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190564237	chr3:86842052-86842053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148426339	chr3:86842143-86842144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562508741	chr3:86842180-86842181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576085888	chr3:86842239-86842240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541919570	chr3:86842267-86842268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555418753	chr3:86842289-86842290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182394021	chr3:86842290-86842291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547879354	chr3:86842333-86842334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559758344	chr3:86842375-86842376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186572420	chr3:86842416-86842417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142400225	chr3:86842417-86842418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572028668	chr3:86842477-86842478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532727193	chr3:86842483-86842484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73844287	chr3:86842534-86842535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550361601	chr3:86842546-86842547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568511993	chr3:86842566-86842567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540930651	chr3:86842572-86842573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58381744	chr3:86842578-86842579	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs59662471	chr3:86842652-86842653	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs374363683	chr3:86842692-86842693	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs546111860	chr3:86842697-86842698	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs539820550	chr3:86842778-86842779	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs369035137	chr3:86842784-86842785	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs577082044	chr3:86842814-86842815	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs544132265	chr3:86842815-86842816	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs145924082	chr3:86842836-86842837	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs574283797	chr3:86842849-86842850	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs541560159	chr3:86842855-86842856	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs547075973	chr3:86842857-86842858	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86832000-86842400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:86836600-86864400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:86836800-86842200	Weak transcription	A549	lung
4	chr3:86840000-86841800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:86840600-86842400	Weak transcription	Hela-S3	cervix
6	chr3:86840600-86842600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:86840600-86842600	Weak transcription	Fetal Lung	lung
8	chr3:86840600-86842800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:86840800-86842200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:86841200-86841800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:86841400-86843400	Enhancers	HSMM	muscle
12	chr3:86841600-86841800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:86841600-86841800	Enhancers	Brain Substantia Nigra	brain
14	chr3:86841600-86841800	Enhancers	Colon Smooth Muscle	Colon
15	chr3:86841600-86841800	Enhancers	Fetal Muscle Leg	muscle
16	chr3:86841600-86841800	Enhancers	Rectal Smooth Muscle	rectum
17	chr3:86841600-86841800	Enhancers	HSMMtube	muscle
18	chr3:86841600-86842600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr3:86841600-86842800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:86841600-86843400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:86841600-86843400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:86841600-86843400	Enhancers	NH-A	brain
23	chr3:86841600-86843400	Enhancers	NHDF-Ad	bronchial
24	chr3:86841600-86843400	Enhancers	NHLF	lung
25	chr3:86841600-86843400	Enhancers	Osteobl	bone
26	chr3:86841800-86842200	Weak transcription	HSMMtube	muscle
27	chr3:86841800-86842400	Weak transcription	Brain Substantia Nigra	brain
28	chr3:86841800-86842400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr3:86841800-86842600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:86841800-86842600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:86841800-86842600	Weak transcription	Colon Smooth Muscle	Colon
32	chr3:86841800-86842800	Weak transcription	Fetal Muscle Leg	muscle
33	chr3:86841800-86843200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:86842200-86842800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:86842200-86842800	Enhancers	A549	lung
36	chr3:86842200-86842800	Enhancers	HSMMtube	muscle
37	chr3:86842400-86842600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:86842400-86843000	Enhancers	Rectal Smooth Muscle	rectum
39	chr3:86842400-86843600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:86842400-86844000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:86842400-86844000	Enhancers	Hela-S3	cervix
42	chr3:86842400-86844200	Enhancers	Brain Substantia Nigra	brain
43	chr3:86842600-86843000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:86842600-86843000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr3:86842600-86843400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:86842600-86843400	Enhancers	Colon Smooth Muscle	Colon
47	chr3:86842600-86843600	Enhancers	Fetal Lung	lung
48	chr3:86842600-86843600	Enhancers	NHEK	skin
49	chr3:86842600-86843800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr3:86842600-86843800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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