Variant report

Variant	nsv961740
Chromosome Location	chr2:182261557-182269438
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:182267247..182270145-chr2:182271761..182273716,3	K562	blood:
2	chr2:182267247..182270145-chr2:182271761..182273716,2	K562	blood:
3	chr2:182259081..182260812-chr2:182261016..182263322,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2E3-1	chr2:182263106-182264286	ENSG00000234663
2	lnc-UBE2E3-1	chr2:182263106-182264280	XLOC_001776
3	lnc-CERKL-2	chr2:182263065-182263392	NONHSAT075862

No data

Extended variants
information (count: 275 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574769277	chr2:182261558-182261559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572148648	chr2:182261573-182261574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75782490	chr2:182261613-182261614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564246174	chr2:182261664-182261665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577677624	chr2:182261699-182261700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543671895	chr2:182261780-182261781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563875810	chr2:182261810-182261811	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545421536	chr2:182261811-182261812	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7602460	chr2:182261869-182261870	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
10	rs527624471	chr2:182261881-182261882	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371372105	chr2:182261890-182261891	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143729712	chr2:182261916-182261917	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528139819	chr2:182261928-182261929	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7602490	chr2:182261954-182261955	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571373207	chr2:182261955-182261956	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57112009	chr2:182261963-182261964	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182465756	chr2:182262123-182262124	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567488988	chr2:182262172-182262173	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115957367	chr2:182262184-182262185	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536049104	chr2:182262190-182262191	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371749697	chr2:182262224-182262225	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187938465	chr2:182262286-182262287	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75936335	chr2:182262353-182262354	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146358660	chr2:182262418-182262419	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192570035	chr2:182262451-182262452	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139731475	chr2:182262465-182262466	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543922608	chr2:182262504-182262505	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144499397	chr2:182262602-182262603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10191579	chr2:182262616-182262617	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs145387106	chr2:182262622-182262623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560091431	chr2:182262625-182262626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528753303	chr2:182262631-182262632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551410589	chr2:182262688-182262689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564903643	chr2:182262707-182262708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569598368	chr2:182262724-182262725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550692228	chr2:182262731-182262732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567248047	chr2:182262830-182262831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538239233	chr2:182262838-182262839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7606201	chr2:182262849-182262850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs149219433	chr2:182262855-182262856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142495588	chr2:182262885-182262886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184188439	chr2:182262925-182262926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558406501	chr2:182262957-182262958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367923866	chr2:182262966-182262967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534506725	chr2:182262982-182262983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571339467	chr2:182262993-182262994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187340097	chr2:182263031-182263032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150935715	chr2:182263074-182263075	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs574002743	chr2:182263098-182263099	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs142048495	chr2:182263147-182263148	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182257200-182262200	Enhancers	Primary hematopoietic stem cells	blood
2	chr2:182258000-182261600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:182258200-182262200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:182258400-182263600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:182258400-182263600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:182258400-182263800	Weak transcription	NHEK	skin
7	chr2:182258600-182262000	Weak transcription	NHDF-Ad	bronchial
8	chr2:182258800-182261800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:182260000-182265600	Enhancers	Dnd41	blood
10	chr2:182260400-182262000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:182260400-182262400	Enhancers	HSMM	muscle
12	chr2:182260400-182264200	Enhancers	HSMMtube	muscle
13	chr2:182260800-182261800	Weak transcription	Fetal Thymus	thymus
14	chr2:182260800-182261800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:182260800-182262000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:182260800-182262000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:182260800-182263600	Weak transcription	Primary B cells from cord blood	blood
18	chr2:182260800-182263600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:182260800-182263800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:182260800-182267200	Weak transcription	GM12878-XiMat	blood
21	chr2:182260800-182277600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:182261000-182263800	Weak transcription	Primary T cells from cord blood	blood
23	chr2:182261000-182264000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:182261000-182267400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr2:182261200-182261600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:182261400-182265400	Enhancers	Thymus	Thymus
27	chr2:182261600-182262200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:182261800-182262400	Enhancers	Fetal Muscle Leg	muscle
29	chr2:182261800-182262600	Genic enhancers	Fetal Thymus	thymus
30	chr2:182261800-182273400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:182262000-182262200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr2:182262000-182262200	Enhancers	NHDF-Ad	bronchial
33	chr2:182262200-182263800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:182262200-182264000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:182262200-182264800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr2:182262600-182266000	Enhancers	Fetal Thymus	thymus
37	chr2:182263600-182263800	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:182263600-182264000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:182263600-182264000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:182263600-182264200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:182263600-182264200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:182263600-182264200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:182263600-182264200	Enhancers	Primary B cells from cord blood	blood
44	chr2:182263600-182264200	Enhancers	Primary B cells from peripheral blood	blood
45	chr2:182263600-182264200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:182263800-182264200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr2:182263800-182264200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr2:182263800-182264200	Enhancers	NHEK	skin
49	chr2:182263800-182264400	Enhancers	Primary T cells from cord blood	blood
50	chr2:182263800-182264400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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