Variant report

Variant	esv3518771
Chromosome Location	chr2:78970346-78994041
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 437 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575281526	chr2:78977204-78977205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539691604	chr2:78977320-78977321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375075432	chr2:78977331-78977332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545769159	chr2:78977340-78977341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369007808	chr2:78977386-78977387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544554742	chr2:78977391-78977392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141928739	chr2:78977408-78977409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551985377	chr2:78977418-78977419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185458842	chr2:78977451-78977452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189586495	chr2:78977453-78977454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180818111	chr2:78977479-78977480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527911410	chr2:78977480-78977481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564396877	chr2:78977517-78977518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529390858	chr2:78977523-78977524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377256007	chr2:78977525-78977526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549179754	chr2:78977543-78977544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531605381	chr2:78977573-78977574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570603631	chr2:78977641-78977642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185666780	chr2:78977656-78977657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551683583	chr2:78977667-78977668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189930231	chr2:78977670-78977671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150669655	chr2:78977674-78977675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181582259	chr2:78977738-78977739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185740554	chr2:78977740-78977741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549983756	chr2:78977764-78977765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192036117	chr2:78977793-78977794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185200029	chr2:78981213-78981214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149272317	chr2:78981292-78981293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369648783	chr2:78981301-78981302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189749893	chr2:78981313-78981314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144520494	chr2:78981352-78981353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562101936	chr2:78981355-78981356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574200897	chr2:78981371-78981372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531277541	chr2:78981373-78981374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543089050	chr2:78981374-78981375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562962199	chr2:78981378-78981379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531967366	chr2:78981389-78981390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115069286	chr2:78981474-78981475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138959254	chr2:78981476-78981477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528313583	chr2:78981478-78981479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78541589	chr2:78981544-78981545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567901932	chr2:78981553-78981554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74691122	chr2:78981556-78981557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537564238	chr2:78981559-78981560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182790194	chr2:78981605-78981606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570891716	chr2:78981661-78981662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12713968	chr2:78981670-78981671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs375685434	chr2:78981679-78981680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573491165	chr2:78981699-78981700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535728202	chr2:78981716-78981717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78977200-78977800	Enhancers	Liver	Liver
2	chr2:78981200-78981400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr2:78981400-78984600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:78983200-78983600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:78983400-78984600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:78983600-78984000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr2:78983600-78985200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:78983600-78987000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:78984000-78984400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:78984200-78985400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:78984400-78985000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr2:78984400-78985200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:78984400-78985200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:78984400-78985200	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:78984400-78986200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:78984600-78985000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:78984600-78985200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:78984600-78985200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr2:78984600-78985200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:78984600-78985800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:78984600-78986200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:78985200-78985800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:78987000-78988600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:78988000-78989800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr2:78993000-78993600	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:78993000-78993800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:78993000-78995000	Enhancers	Brain Hippocampus Middle	brain
28	chr2:78993200-78993800	Enhancers	Brain Angular Gyrus	brain
29	chr2:78993200-78994800	Enhancers	Brain Substantia Nigra	brain
30	chr2:78993200-78995400	Enhancers	Colon Smooth Muscle	Colon
31	chr2:78993200-78995600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:78993200-78995800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:78993400-78994200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:78993400-78995400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:78993400-78995600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:78993400-78995600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:78993600-78993800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:78993800-78994800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:78993800-78995000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links