Variant report

Variant	esv3438755
Chromosome Location	chr2:96423525-96427923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 176 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2315452	chr2:96423582-96423583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2315451	chr2:96423587-96423588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535378270	chr2:96423613-96423614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536573866	chr2:96423628-96423629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184598475	chr2:96423639-96423640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565888512	chr2:96423641-96423642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535133322	chr2:96423653-96423654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189386677	chr2:96423711-96423712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558250073	chr2:96423725-96423726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181988426	chr2:96423782-96423783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184259280	chr2:96423807-96423808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557261922	chr2:96423838-96423839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554758149	chr2:96423847-96423848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574321139	chr2:96423866-96423867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542904467	chr2:96423892-96423893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369247168	chr2:96423900-96423901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561730488	chr2:96423921-96423922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2005613	chr2:96423982-96423983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs148956287	chr2:96424014-96424015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190416840	chr2:96424018-96424019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143706884	chr2:96424024-96424025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549992092	chr2:96424069-96424070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181238616	chr2:96424074-96424075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534801694	chr2:96424174-96424175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201131622	chr2:96424179-96424180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565547924	chr2:96424184-96424185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141035263	chr2:96424189-96424190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3855810	chr2:96424244-96424245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs566095489	chr2:96424277-96424278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534989753	chr2:96424278-96424279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113170436	chr2:96424342-96424343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577939882	chr2:96424352-96424353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551779744	chr2:96424407-96424408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571808543	chr2:96424449-96424450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200834119	chr2:96424513-96424514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201655932	chr2:96424519-96424520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575503406	chr2:96424571-96424572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536964567	chr2:96424618-96424619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553361102	chr2:96424661-96424662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542915467	chr2:96424723-96424724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573176094	chr2:96424744-96424745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540657979	chr2:96424745-96424746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563731927	chr2:96424747-96424748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561104425	chr2:96424749-96424750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535995738	chr2:96424768-96424769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12464938	chr2:96424781-96424782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs186583234	chr2:96424791-96424792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563510387	chr2:96424820-96424821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529045833	chr2:96424853-96424854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3845245	chr2:96424861-96424862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Medulloblastoma	20607354	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
Neuroblastoma	18574593	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96422400-96426200	Weak transcription	Brain Anterior Caudate	brain
2	chr2:96426200-96427200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:96426200-96427400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr2:96426200-96427600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:96426200-96427600	Enhancers	Brain Anterior Caudate	brain
6	chr2:96426200-96428200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:96426400-96427400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:96426400-96427400	Enhancers	HSMMtube	muscle
9	chr2:96426400-96427600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:96426400-96427600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:96426600-96427200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:96426600-96427200	Enhancers	Osteobl	bone
13	chr2:96426600-96427400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:96426600-96427400	Enhancers	HMEC	breast
15	chr2:96426600-96427400	Enhancers	HSMM	muscle
16	chr2:96426600-96427400	Enhancers	NH-A	brain
17	chr2:96426600-96427600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:96426600-96427600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:96426600-96428400	Enhancers	Placenta	Placenta
20	chr2:96427000-96427600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:96427400-96428800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:96427600-96428800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:96427600-96430800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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