Variant report

Variant	nsv1008976
Chromosome Location	chr2:78455070-78541719
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:
2	chr2:78538765..78541253-chr2:78550718..78553114,2	K562	blood:

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

Extended variants
information (count: 2052 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2052 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530589933	chr2:78459803-78459804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550764171	chr2:78459845-78459846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186522728	chr2:78459873-78459874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533517870	chr2:78459907-78459908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566815189	chr2:78459979-78459980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs59557275	chr2:78459999-78460000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375455158	chr2:78460039-78460040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs60912555	chr2:78460047-78460048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192222576	chr2:78460094-78460095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142614092	chr2:78460118-78460119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555613008	chr2:78460233-78460234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370590440	chr2:78460238-78460239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533823700	chr2:78460258-78460259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114635003	chr2:78460288-78460289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558333915	chr2:78460294-78460295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35520089	chr2:78460297-78460298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115338878	chr2:78460328-78460329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78024238	chr2:78460439-78460440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79478731	chr2:78460449-78460450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185973204	chr2:78460494-78460495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572903324	chr2:78460495-78460496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72819096	chr2:78460548-78460549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs138641781	chr2:78460573-78460574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530841455	chr2:78460614-78460615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573505719	chr2:78460687-78460688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191194272	chr2:78460718-78460719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564349033	chr2:78460735-78460736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533254672	chr2:78460759-78460760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546719428	chr2:78460779-78460780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566648210	chr2:78460788-78460789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182396473	chr2:78460805-78460806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141908647	chr2:78460843-78460844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556892070	chr2:78460850-78460851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569403814	chr2:78460855-78460856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574980675	chr2:78460884-78460885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542040906	chr2:78460905-78460906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186975535	chr2:78460991-78460992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571843866	chr2:78461033-78461034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150213087	chr2:78461066-78461067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553075131	chr2:78461078-78461079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72819097	chr2:78461082-78461083	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575778991	chr2:78461198-78461199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192294358	chr2:78461205-78461206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555402297	chr2:78461206-78461207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575442264	chr2:78461213-78461214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75711674	chr2:78461218-78461219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35983873	chr2:78461267-78461268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182815157	chr2:78461307-78461308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533124201	chr2:78461334-78461335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540055265	chr2:78461347-78461348	Enhancers Weak transcription	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:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78459800-78472400	Weak transcription	HepG2	liver
2	chr2:78460800-78462000	Enhancers	Brain Substantia Nigra	brain
3	chr2:78467000-78467200	Enhancers	Brain Hippocampus Middle	brain
4	chr2:78467000-78468000	Weak transcription	Brain Substantia Nigra	brain
5	chr2:78467200-78468600	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:78467200-78469000	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:78468000-78469200	Enhancers	Brain Substantia Nigra	brain
8	chr2:78468600-78469000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:78468600-78469000	Enhancers	Brain Hippocampus Middle	brain
10	chr2:78469000-78472800	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:78472400-78473200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:78472400-78473200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:78472400-78473400	Enhancers	HepG2	liver
14	chr2:78472600-78473000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:78472800-78473200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr2:78472800-78473200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:78472800-78473200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:78472800-78473200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:78472800-78473200	ZNF genes & repeats	Brain Hippocampus Middle	brain
20	chr2:78472800-78473600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:78473000-78473400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:78478200-78479000	Weak transcription	Brain Substantia Nigra	brain
23	chr2:78479000-78479200	ZNF genes & repeats	Brain Substantia Nigra	brain
24	chr2:78479200-78479400	Weak transcription	Brain Substantia Nigra	brain
25	chr2:78485800-78486000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:78485800-78486000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:78486400-78487600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:78487000-78488200	Enhancers	HepG2	liver
29	chr2:78487200-78489000	Enhancers	Brain Cingulate Gyrus	brain
30	chr2:78487400-78489000	Enhancers	Brain Hippocampus Middle	brain
31	chr2:78487600-78488800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr2:78487600-78491600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:78487800-78488800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr2:78488000-78488200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:78488000-78489000	Enhancers	Brain Substantia Nigra	brain
36	chr2:78488200-78488600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:78488200-78489000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:78488200-78489600	Flanking Active TSS	HepG2	liver
39	chr2:78488400-78488800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:78488400-78488800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:78488600-78488800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:78488800-78489000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:78488800-78490000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:78488800-78492200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:78489000-78490000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:78489000-78491400	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:78489000-78491400	Weak transcription	Brain Substantia Nigra	brain
48	chr2:78489600-78490600	Enhancers	HepG2	liver
49	chr2:78490000-78490400	Enhancers	Brain Cingulate Gyrus	brain
50	chr2:78490000-78491800	Enhancers	Cortex derived primary cultured neurospheres	brain

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