Variant report

Variant	nsv967007
Chromosome Location	chr3:42383314-42384504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42380106..42383647-chr3:42383812..42387475,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRAK1-8	chr3:42382080-42383859	NONHSAT089217

Variant related genes	Relation type
ENSG00000229572	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539615717	chr3:42383315-42383316	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs13098757	chr3:42383333-42383334	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376221211	chr3:42383360-42383361	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs184802243	chr3:42383395-42383396	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs555079222	chr3:42383423-42383424	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs555398151	chr3:42383427-42383428	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs368720861	chr3:42383449-42383450	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs190118685	chr3:42383450-42383451	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs73828826	chr3:42383454-42383455	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs151140845	chr3:42383548-42383549	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs181652674	chr3:42383583-42383584	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs543219036	chr3:42383618-42383619	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs563534648	chr3:42383651-42383652	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs116552919	chr3:42383652-42383653	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs186506086	chr3:42383656-42383657	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs561739346	chr3:42383657-42383658	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs56351527	chr3:42383690-42383691	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs145935526	chr3:42383715-42383716	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs547393432	chr3:42383727-42383728	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs190849251	chr3:42383734-42383735	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs374039133	chr3:42383744-42383745	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs533712333	chr3:42383823-42383824	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs568602671	chr3:42383850-42383851	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs55819908	chr3:42383865-42383866	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549818661	chr3:42383918-42383919	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370564771	chr3:42383933-42383934	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535532761	chr3:42384004-42384005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs555461429	chr3:42384015-42384016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140243136	chr3:42384021-42384022	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs13061663	chr3:42384024-42384025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557751689	chr3:42384038-42384039	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577845777	chr3:42384043-42384044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs149899056	chr3:42384069-42384070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556876027	chr3:42384079-42384080	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs573823114	chr3:42384160-42384161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537445304	chr3:42384161-42384162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542588877	chr3:42384205-42384206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs561802496	chr3:42384214-42384215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs247411	chr3:42384218-42384219	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565906087	chr3:42384233-42384234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs541009715	chr3:42384239-42384240	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs111573599	chr3:42384246-42384247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533452860	chr3:42384266-42384267	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs146496047	chr3:42384269-42384270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570261253	chr3:42384275-42384276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs9811803	chr3:42384315-42384316	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs13084687	chr3:42384327-42384328	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565746539	chr3:42384341-42384342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs114448777	chr3:42384342-42384343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557447863	chr3:42384362-42384363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42382000-42384200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr3:42383600-42384000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:42384000-42387000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:42384200-42385800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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