Variant report

Variant	nsv874338
Chromosome Location	chr2:77683562-77747513
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:77726699..77728852-chr2:77733118..77735865,2	MCF-7	breast:
2	chr2:77726699..77728852-chr2:77733118..77735865,2	MCF-7	breast:
3	chr2:77697026..77699297-chr2:77719458..77722284,2	MCF-7	breast:
4	chr2:77747263..77749621-chr20:52208634..52211022,2	MCF-7	breast:
5	chr2:77697026..77699297-chr2:77719458..77722284,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REG1B-8	chr2:77733047-77733243	NONHSAT071827
2	lnc-REG1B-8	chr2:77735216-77735302	NONHSAT071827

No data

Variant related genes	Relation type
ENSG00000171940	chromatin interactions

Extended variants
information (count: 1859 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1859 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1882681	chr2:77683562-77683563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543699899	chr2:77683585-77683586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563589484	chr2:77683588-77683589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62162583	chr2:77683591-77683592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187043290	chr2:77683613-77683614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573912601	chr2:77683638-77683639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535156752	chr2:77683725-77683726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72811236	chr2:77683755-77683756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192438511	chr2:77683880-77683881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141491173	chr2:77683891-77683892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568276555	chr2:77683934-77683935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537265530	chr2:77683950-77683951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201320498	chr2:77684080-77684081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372166999	chr2:77684119-77684120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376316571	chr2:77684126-77684127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199614882	chr2:77684129-77684130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6146817	chr2:77684130-77684131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374485222	chr2:77684145-77684146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs60120009	chr2:77684149-77684150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558119454	chr2:77684152-77684153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs5002968	chr2:77684178-77684179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182484977	chr2:77684191-77684192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550836885	chr2:77684203-77684204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146275426	chr2:77684232-77684233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34535249	chr2:77684236-77684237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539777777	chr2:77684321-77684322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139198840	chr2:77684344-77684345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186273641	chr2:77684449-77684450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79464568	chr2:77684451-77684452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554714730	chr2:77684565-77684566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35232455	chr2:77684596-77684597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190071148	chr2:77684599-77684600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543663931	chr2:77684602-77684603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182395037	chr2:77684635-77684636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577057673	chr2:77684659-77684660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545827204	chr2:77684665-77684666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149942495	chr2:77684694-77684695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13030574	chr2:77684710-77684711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113451237	chr2:77684722-77684723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528488074	chr2:77684734-77684735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13030949	chr2:77684774-77684775	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs78179765	chr2:77684810-77684811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530943567	chr2:77684814-77684815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374579919	chr2:77684815-77684816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371856029	chr2:77684833-77684834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187033271	chr2:77684859-77684860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191983278	chr2:77684866-77684867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144025815	chr2:77684951-77684952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75931691	chr2:77684975-77684976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565628109	chr2:77684979-77684980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77675400-77687000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:77681800-77688600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:77681800-77689000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:77683800-77685800	Enhancers	Fetal Heart	heart
5	chr2:77684600-77685200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:77684800-77690200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:77685000-77686200	Enhancers	Brain Anterior Caudate	brain
8	chr2:77685200-77688600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:77685800-77686800	Weak transcription	Fetal Heart	heart
10	chr2:77686200-77687000	Weak transcription	Brain Anterior Caudate	brain
11	chr2:77687000-77687200	Enhancers	Brain Germinal Matrix	brain
12	chr2:77687000-77687200	Enhancers	Fetal Heart	heart
13	chr2:77687000-77687400	Active TSS	Brain Hippocampus Middle	brain
14	chr2:77687000-77687600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:77687000-77687600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:77687000-77687600	Enhancers	Brain Angular Gyrus	brain
17	chr2:77687000-77687600	Active TSS	Brain Anterior Caudate	brain
18	chr2:77687000-77689200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:77687000-77689800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:77687200-77687400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:77687200-77687400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:77687200-77687600	Active TSS	NHLF	lung
23	chr2:77687200-77688800	Weak transcription	Brain Germinal Matrix	brain
24	chr2:77687400-77688800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:77687400-77689200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:77687600-77689000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:77688600-77688800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:77688600-77689600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:77688600-77690000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:77688800-77689600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:77688800-77689600	Enhancers	Brain Germinal Matrix	brain
32	chr2:77688800-77690000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:77688800-77690000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:77689000-77689400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:77689000-77689400	Enhancers	Fetal Brain Male	brain
36	chr2:77689000-77690000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:77689000-77690000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:77689200-77690000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:77689200-77692800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:77689400-77690000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:77689400-77693000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:77689600-77690000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:77689600-77693200	Weak transcription	Brain Germinal Matrix	brain
44	chr2:77689800-77693000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:77690200-77693000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:77691200-77692600	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr2:77692400-77692600	Active TSS	Brain Hippocampus Middle	brain
48	chr2:77692600-77692800	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr2:77692600-77693000	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr2:77692600-77693200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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