Variant report

Variant	esv1798632
Chromosome Location	chr2:142324536-142327536
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	chr2:142317711..142321512-chr2:142324977..142327310,3	MCF-7	breast:

Extended variants
information (count: 125 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12621499	chr2:142324536-142324537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370178462	chr2:142324559-142324560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569380185	chr2:142324592-142324593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538421001	chr2:142324611-142324612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550449227	chr2:142324694-142324695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570405501	chr2:142324727-142324728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554781347	chr2:142324742-142324743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201346349	chr2:142324743-142324744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566395546	chr2:142324745-142324746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373633467	chr2:142324791-142324792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535175058	chr2:142324801-142324802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150058125	chr2:142324808-142324809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574976364	chr2:142324818-142324819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193274451	chr2:142324819-142324820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563826291	chr2:142324823-142324824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112743591	chr2:142324824-142324825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557204585	chr2:142324836-142324837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62169803	chr2:142324877-142324878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545809460	chr2:142324948-142324949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559195341	chr2:142324952-142324953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528373576	chr2:142325008-142325009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541584325	chr2:142325027-142325028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561917020	chr2:142325038-142325039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530645820	chr2:142325053-142325054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs16846515	chr2:142325077-142325078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570467719	chr2:142325133-142325134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10928111	chr2:142325164-142325165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546619805	chr2:142325183-142325184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566333883	chr2:142325218-142325219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535323627	chr2:142325233-142325234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73965713	chr2:142325240-142325241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs150590997	chr2:142325351-142325352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201830488	chr2:142325361-142325362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199999561	chr2:142325362-142325363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200785756	chr2:142325363-142325364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201921406	chr2:142325364-142325365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568618935	chr2:142325375-142325376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115030171	chr2:142325406-142325407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553586877	chr2:142325412-142325413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570727929	chr2:142325425-142325426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182430506	chr2:142325437-142325438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186603597	chr2:142325515-142325516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552959644	chr2:142325558-142325559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145431533	chr2:142325597-142325598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374308874	chr2:142325612-142325613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149191413	chr2:142325654-142325655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568073453	chr2:142325663-142325664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561866681	chr2:142325712-142325713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535473087	chr2:142325723-142325724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550999495	chr2:142325753-142325754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142315200-142327800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:142320400-142327800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:142323400-142327800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:142323800-142328000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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