Variant report

Variant	nsv1009339
Chromosome Location	chr3:86673173-86725713
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-2	chr3:86708248-86708384	XLOC_002725
2	lnc-CHMP2B-2	chr3:86708291-86708384	NONHSAT090678
3	lnc-CHMP2B-2	chr3:86708205-86708384	NONHSAT090674
4	lnc-CHMP2B-2	chr3:86708206-86708384	XLOC_002725
5	lnc-CHMP2B-2	chr3:86708248-86708384	XLOC_002725

Variant related genes	Relation type
TRIM8	miRNA target sites
MCL1	miRNA target sites

Extended variants
information (count: 1105 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1105 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541115320	chr3:86673222-86673223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559123346	chr3:86673233-86673234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201388620	chr3:86673248-86673249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376733451	chr3:86673250-86673251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199723177	chr3:86673251-86673252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577199851	chr3:86673278-86673279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192906509	chr3:86673327-86673328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116375779	chr3:86673329-86673330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563611318	chr3:86673353-86673354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115614146	chr3:86673381-86673382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368905336	chr3:86673431-86673432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374396754	chr3:86673451-86673452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561438641	chr3:86673478-86673479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185115402	chr3:86673510-86673511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35214147	chr3:86673512-86673513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373806120	chr3:86673518-86673519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547062203	chr3:86673540-86673541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117419448	chr3:86673543-86673544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149002130	chr3:86673549-86673550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77495450	chr3:86673580-86673581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539238415	chr3:86673622-86673623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145594332	chr3:86673637-86673638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545407701	chr3:86673644-86673645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147717531	chr3:86673651-86673652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114707636	chr3:86673682-86673683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142112764	chr3:86673728-86673729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112184846	chr3:86673743-86673744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188829888	chr3:86673744-86673745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71619504	chr3:86673756-86673757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374203288	chr3:86673757-86673758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572580675	chr3:86673767-86673768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71128158	chr3:86673772-86673773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544569714	chr3:86673798-86673799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557240215	chr3:86673832-86673833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575484634	chr3:86673844-86673845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6804348	chr3:86673923-86673924	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569363133	chr3:86673947-86673948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374310154	chr3:86673967-86673968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531753122	chr3:86673972-86673973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538228009	chr3:86673975-86673976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528670777	chr3:86673997-86673998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540402508	chr3:86674012-86674013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145821433	chr3:86674017-86674018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138667629	chr3:86674032-86674033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140054227	chr3:86674077-86674078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183709866	chr3:86674153-86674154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530752129	chr3:86674164-86674165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549241611	chr3:86674188-86674189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567374582	chr3:86674190-86674191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534788463	chr3:86674208-86674209	Weak transcription	n/a	n/a	Overlapped CNVs	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86667600-86674400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:86673200-86673800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:86673400-86674200	Enhancers	H9 Cell Line	embryonic stem cell
4	chr3:86674400-86674600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:86675400-86676600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:86675800-86676600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:86677600-86682200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:86678800-86681000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:86681600-86681800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:86681800-86682000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:86682000-86684000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:86682200-86685800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:86683200-86684000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:86683200-86685000	Enhancers	Brain Germinal Matrix	brain
15	chr3:86683400-86683600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr3:86683400-86683800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:86683600-86684000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:86684000-86685800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:86685800-86686400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:86686400-86687000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr3:86687400-86688200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:86687600-86688200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:86690600-86691200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr3:86696600-86701800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:86700800-86708200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:86701200-86702000	Enhancers	Brain Germinal Matrix	brain
27	chr3:86701400-86701800	Enhancers	Fetal Brain Female	brain
28	chr3:86701800-86704400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr3:86702000-86702400	Weak transcription	Brain Germinal Matrix	brain
30	chr3:86702400-86703000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:86702400-86703000	Enhancers	Brain Germinal Matrix	brain
32	chr3:86702600-86702800	Enhancers	Fetal Intestine Large	intestine
33	chr3:86702600-86702800	Enhancers	Fetal Intestine Small	intestine
34	chr3:86702600-86703200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:86702600-86703200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:86702600-86703200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr3:86702600-86703200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:86702600-86703400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:86702800-86703200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr3:86702800-86703200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr3:86702800-86703200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr3:86702800-86703400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr3:86702800-86703400	Active TSS	Fetal Intestine Large	intestine
44	chr3:86702800-86703400	Active TSS	Fetal Intestine Small	intestine
45	chr3:86703000-86707200	Weak transcription	Brain Germinal Matrix	brain
46	chr3:86703200-86704200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr3:86703400-86703600	Enhancers	Fetal Intestine Small	intestine
48	chr3:86704200-86704400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr3:86707200-86708400	Enhancers	Brain Germinal Matrix	brain
50	chr3:86707800-86708400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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