Variant report

Variant	esv3427374
Chromosome Location	chr2:111593681-111597879
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	chr2:111595145..111597268-chr2:111609719..111611330,2	K562	blood:
2	chr2:111596367..111598097-chr2:111601001..111603633,2	MCF-7	breast:

Extended variants
information (count: 148 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536687519	chr2:111593776-111593777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556119664	chr2:111593788-111593789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138824645	chr2:111593789-111593790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538914619	chr2:111593797-111593798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558737894	chr2:111593818-111593819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192089190	chr2:111593825-111593826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572555319	chr2:111593885-111593886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376167478	chr2:111593893-111593894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553872508	chr2:111593920-111593921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542800654	chr2:111593922-111593923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142829338	chr2:111593942-111593943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34987843	chr2:111593967-111593968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184273112	chr2:111593972-111593973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369425669	chr2:111593979-111593980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531653048	chr2:111593986-111593987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545280098	chr2:111594003-111594004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564932866	chr2:111594014-111594015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546141465	chr2:111594117-111594118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112813323	chr2:111594139-111594140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527525561	chr2:111594143-111594144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547262557	chr2:111594152-111594153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567777318	chr2:111594185-111594186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112901487	chr2:111594244-111594245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530108703	chr2:111594325-111594326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549780347	chr2:111594351-111594352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569675135	chr2:111594382-111594383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528640311	chr2:111594386-111594387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538950355	chr2:111594411-111594412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79854355	chr2:111594435-111594436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188661412	chr2:111594486-111594487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114599652	chr2:111594489-111594490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554843017	chr2:111594499-111594500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147406509	chr2:111594503-111594504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181053573	chr2:111594531-111594532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568672249	chr2:111594639-111594640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556202557	chr2:111594660-111594661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139509256	chr2:111594709-111594710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184373990	chr2:111594782-111594783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565222043	chr2:111594799-111594800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111658849	chr2:111594818-111594819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541245175	chr2:111594855-111594856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547098771	chr2:111594858-111594859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150501068	chr2:111594889-111594890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549817139	chr2:111594918-111594919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563440638	chr2:111594929-111594930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565168922	chr2:111594933-111594934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565760625	chr2:111594975-111594976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189260749	chr2:111594987-111594988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566389929	chr2:111595011-111595012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143556400	chr2:111595029-111595030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
Autism	17483303	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111562800-111604000	Weak transcription	Lung	lung
2	chr2:111590600-111596800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:111590800-111593800	Enhancers	GM12878-XiMat	blood
4	chr2:111590800-111594000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:111590800-111594800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:111590800-111596400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:111591400-111597000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:111591600-111597400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:111591800-111594000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:111592000-111598400	Enhancers	Fetal Thymus	thymus
11	chr2:111592200-111595600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:111592400-111594600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:111592400-111595600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:111592400-111595600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:111592400-111595600	Enhancers	Fetal Brain Male	brain
16	chr2:111592400-111596600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:111592400-111596800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:111592400-111597200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:111592600-111596200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:111592600-111596200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:111592600-111596200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:111593200-111594600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:111593200-111594600	Weak transcription	Dnd41	blood
24	chr2:111593200-111595400	Weak transcription	Thymus	Thymus
25	chr2:111593200-111596000	Weak transcription	Primary T cells from cord blood	blood
26	chr2:111593200-111596000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:111593200-111598800	Weak transcription	Pancreas	Pancrea
28	chr2:111593400-111601200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr2:111593600-111596200	Enhancers	Fetal Brain Female	brain
30	chr2:111594000-111594400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:111594000-111594400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:111594000-111595600	Enhancers	Fetal Lung	lung
33	chr2:111594000-111598800	Enhancers	Fetal Muscle Leg	muscle
34	chr2:111594400-111595000	Enhancers	H9 Cell Line	embryonic stem cell
35	chr2:111594400-111596600	Enhancers	Fetal Muscle Trunk	muscle
36	chr2:111594400-111596800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:111594400-111597200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:111594400-111597200	Enhancers	Fetal Stomach	stomach
39	chr2:111594600-111595600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:111594600-111595600	Enhancers	Dnd41	blood
41	chr2:111594600-111597000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:111594800-111595600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:111594800-111595600	Enhancers	Brain Germinal Matrix	brain
44	chr2:111595000-111595600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr2:111595200-111596200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:111595400-111596000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr2:111595400-111597400	Enhancers	Thymus	Thymus
48	chr2:111595600-111595800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:111595600-111596000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:111595600-111596000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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