Variant report

Variant	nsv1005419
Chromosome Location	chr2:78511953-78536293
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	chr2:78519747..78522682-chr2:78785137..78786876,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-3	chr2:78517514-78517857	NR_110288

Extended variants
information (count: 714 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:714 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116898751	chr2:78514404-78514405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79479150	chr2:78514430-78514431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574952006	chr2:78514434-78514435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576352464	chr2:78514474-78514475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187219102	chr2:78514536-78514537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563920586	chr2:78514572-78514573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192099480	chr2:78514574-78514575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530423843	chr2:78514575-78514576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545136623	chr2:78514594-78514595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566264102	chr2:78514596-78514597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182373762	chr2:78514625-78514626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375146587	chr2:78514656-78514657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114989445	chr2:78514662-78514663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186658014	chr2:78514663-78514664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191364884	chr2:78514669-78514670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182772209	chr2:78514737-78514738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143077054	chr2:78514768-78514769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568110747	chr2:78517589-78517590	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs536769473	chr2:78517619-78517620	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs374010729	chr2:78517627-78517628	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs368157780	chr2:78517654-78517655	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs539348037	chr2:78517689-78517690	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs552880034	chr2:78517693-78517694	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs115627573	chr2:78517698-78517699	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs541974226	chr2:78517819-78517820	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs528958414	chr2:78517858-78517859	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs72912055	chr2:78517867-78517868	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs575648559	chr2:78517873-78517874	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs570080588	chr2:78517880-78517881	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs77811218	chr2:78517929-78517930	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs183520275	chr2:78517986-78517987	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs76167322	chr2:78517991-78517992	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs540906228	chr2:78517998-78517999	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs368248069	chr2:78518002-78518003	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186368949	chr2:78518052-78518053	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75207030	chr2:78518054-78518055	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138460854	chr2:78518087-78518088	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376621238	chr2:78518098-78518099	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557609064	chr2:78518150-78518151	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569352130	chr2:78518160-78518161	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190028685	chr2:78518174-78518175	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550309305	chr2:78518191-78518192	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148843235	chr2:78518223-78518224	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs539082636	chr2:78518253-78518254	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs552712772	chr2:78518260-78518261	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs566731603	chr2:78518276-78518277	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs115911327	chr2:78518286-78518287	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs182260327	chr2:78518354-78518355	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs74603357	chr2:78518367-78518368	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs544714040	chr2:78518373-78518374	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78514400-78514800	Enhancers	Brain Anterior Caudate	brain
2	chr2:78514600-78514800	Enhancers	Aorta	Aorta
3	chr2:78517600-78518000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:78517600-78518200	Active TSS	Brain Cingulate Gyrus	brain
5	chr2:78517600-78518200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr2:78518000-78519200	Enhancers	Brain Hippocampus Middle	brain
7	chr2:78518000-78521800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:78518200-78518400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:78518400-78518800	Enhancers	Brain Substantia Nigra	brain
10	chr2:78518800-78527000	Weak transcription	Brain Substantia Nigra	brain
11	chr2:78521800-78523200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:78527000-78527400	Active TSS	Brain Hippocampus Middle	brain
13	chr2:78527000-78527400	Active TSS	Brain Substantia Nigra	brain
14	chr2:78527400-78528400	Weak transcription	Brain Substantia Nigra	brain
15	chr2:78527400-78528600	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:78528400-78528600	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:78528400-78528600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:78528400-78528600	Active TSS	Brain Substantia Nigra	brain
19	chr2:78528600-78528800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:78528600-78528800	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr2:78528600-78529000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:78528600-78529000	Active TSS	Brain Cingulate Gyrus	brain
23	chr2:78528600-78529200	Enhancers	Brain Hippocampus Middle	brain
24	chr2:78528600-78532600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:78528800-78531800	Weak transcription	Brain Substantia Nigra	brain
26	chr2:78528800-78533400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:78529000-78531600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:78529000-78536200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:78529200-78531600	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:78531600-78532200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:78531600-78532200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:78531600-78532200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:78531600-78532200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:78531600-78532200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr2:78531600-78532200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:78531600-78532600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:78531600-78532600	Enhancers	Brain Hippocampus Middle	brain
38	chr2:78531600-78532800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:78531600-78534800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:78531800-78532200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr2:78531800-78532200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:78531800-78532200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:78531800-78532200	Enhancers	Brain Angular Gyrus	brain
44	chr2:78531800-78532200	Enhancers	Brain Substantia Nigra	brain
45	chr2:78531800-78532200	Enhancers	HepG2	liver
46	chr2:78531800-78532600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:78531800-78532600	Enhancers	Brain Germinal Matrix	brain
48	chr2:78531800-78532800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:78532200-78533200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:78532200-78533400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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