Variant report

Variant	nsv979904
Chromosome Location	chr3:177624544-177633799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNMB2-1	chr3:177624713-177624884	NONHSAT093360

Extended variants
information (count: 323 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147998685	chr3:177624552-177624553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190023984	chr3:177624566-177624567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs80217578	chr3:177624572-177624573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7649626	chr3:177624590-177624591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182662229	chr3:177624633-177624634	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs528289281	chr3:177624640-177624641	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs541184686	chr3:177624707-177624708	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs187080136	chr3:177624769-177624770	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs530873115	chr3:177624775-177624776	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs550882567	chr3:177624788-177624789	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs534102123	chr3:177624821-177624822	Enhancers Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs141694752	chr3:177624842-177624843	Enhancers Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs535791701	chr3:177624867-177624868	Enhancers Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs370461464	chr3:177624880-177624881	Enhancers Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs549229055	chr3:177624895-177624896	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs566133720	chr3:177624921-177624922	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs534781049	chr3:177624953-177624954	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs140536317	chr3:177624956-177624957	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs557960197	chr3:177624987-177624988	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs571505716	chr3:177624992-177624993	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs114723993	chr3:177625017-177625018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372771224	chr3:177625043-177625044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150497282	chr3:177625049-177625050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190930236	chr3:177625052-177625053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576976956	chr3:177625084-177625085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112584746	chr3:177625160-177625161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139468024	chr3:177625208-177625209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112399775	chr3:177625261-177625262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143210558	chr3:177625282-177625283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545120698	chr3:177625315-177625316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182591896	chr3:177625328-177625329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565113527	chr3:177625345-177625346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372729361	chr3:177625425-177625426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530681388	chr3:177625444-177625445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140196747	chr3:177625450-177625451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561207056	chr3:177625453-177625454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6782448	chr3:177625460-177625461	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs549394837	chr3:177625499-177625500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535779004	chr3:177625509-177625510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565917037	chr3:177625607-177625608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556268167	chr3:177625610-177625611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6809374	chr3:177625733-177625734	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551452691	chr3:177625813-177625814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370844488	chr3:177625822-177625823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71634254	chr3:177625853-177625854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6809579	chr3:177625855-177625856	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs189011244	chr3:177625878-177625879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567982927	chr3:177625889-177625890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536521852	chr3:177625897-177625898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193146961	chr3:177625935-177625936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Cancer	20164920	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:177617800-177628000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:177620600-177625200	Enhancers	NHLF	lung
3	chr3:177621200-177625000	Enhancers	Fetal Kidney	kidney
4	chr3:177621800-177625800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:177622000-177625000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:177622000-177625000	Enhancers	NHDF-Ad	bronchial
7	chr3:177622000-177625400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:177622000-177625400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:177622200-177625200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:177622400-177624600	Enhancers	Rectal Smooth Muscle	rectum
11	chr3:177622400-177624800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:177622400-177624800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:177622400-177625000	Enhancers	HMEC	breast
14	chr3:177622400-177625200	Enhancers	Brain Anterior Caudate	brain
15	chr3:177622600-177624800	Enhancers	Colon Smooth Muscle	Colon
16	chr3:177622600-177625000	Enhancers	Aorta	Aorta
17	chr3:177622600-177625000	Enhancers	Fetal Lung	lung
18	chr3:177622600-177625000	Enhancers	Fetal Muscle Leg	muscle
19	chr3:177622600-177625200	Enhancers	Adipose Nuclei	Adipose
20	chr3:177622800-177625000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr3:177622800-177625000	Enhancers	Fetal Stomach	stomach
22	chr3:177623000-177625200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr3:177623200-177624800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:177623200-177625000	Enhancers	Brain Hippocampus Middle	brain
25	chr3:177623400-177625000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:177623600-177624800	Weak transcription	Pancreas	Pancrea
27	chr3:177623800-177624800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr3:177623800-177625000	Enhancers	HSMM	muscle
29	chr3:177624000-177624800	Weak transcription	Liver	Liver
30	chr3:177624000-177625000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:177624000-177625000	Enhancers	NH-A	brain
32	chr3:177624200-177624600	Enhancers	Stomach Smooth Muscle	stomach
33	chr3:177624200-177624600	Enhancers	Osteobl	bone
34	chr3:177624200-177625000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:177624200-177625000	Weak transcription	Brain Germinal Matrix	brain
36	chr3:177624200-177625400	Enhancers	Fetal Brain Male	brain
37	chr3:177624400-177624600	Enhancers	HSMMtube	muscle
38	chr3:177624400-177624800	Weak transcription	Fetal Brain Female	brain
39	chr3:177624400-177625400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:177624400-177646600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:177624600-177624800	Flanking Active TSS	HSMMtube	muscle
42	chr3:177624600-177624800	Flanking Active TSS	Osteobl	bone
43	chr3:177624800-177625000	ZNF genes & repeats	Liver	Liver
44	chr3:177624800-177625000	Enhancers	Brain Cingulate Gyrus	brain
45	chr3:177624800-177625000	Enhancers	Pancreas	Pancrea
46	chr3:177624800-177625200	Enhancers	Fetal Brain Female	brain
47	chr3:177624800-177625200	Enhancers	HSMMtube	muscle
48	chr3:177624800-177625400	Enhancers	Osteobl	bone
49	chr3:177624800-177627200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:177625000-177625200	Enhancers	Brain Germinal Matrix	brain

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