Variant report

Variant	esv3437473
Chromosome Location	chr2:96583925-96588123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 222 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565852977	chr2:96583948-96583949	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553841567	chr2:96584000-96584001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13025764	chr2:96584005-96584006	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546028346	chr2:96584057-96584058	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143173439	chr2:96584068-96584069	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531537177	chr2:96584069-96584070	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541740514	chr2:96584078-96584079	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557674203	chr2:96584086-96584087	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577229206	chr2:96584097-96584098	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527692149	chr2:96584098-96584099	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547463450	chr2:96584112-96584113	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570969092	chr2:96584116-96584117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537999526	chr2:96584168-96584169	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550430178	chr2:96584260-96584261	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190536217	chr2:96584286-96584287	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146747888	chr2:96584290-96584291	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556098493	chr2:96584305-96584306	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566202570	chr2:96584308-96584309	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533825959	chr2:96584332-96584333	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553486155	chr2:96584335-96584336	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs57472052	chr2:96584348-96584349	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185237536	chr2:96584361-96584362	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188971053	chr2:96584375-96584376	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575833438	chr2:96584381-96584382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541580479	chr2:96584385-96584386	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561686154	chr2:96584405-96584406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527586069	chr2:96584410-96584411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541441996	chr2:96584429-96584430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564306484	chr2:96584438-96584439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542258149	chr2:96584467-96584468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560737834	chr2:96584492-96584493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572651608	chr2:96584535-96584536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12621287	chr2:96584621-96584622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563727257	chr2:96584653-96584654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11683884	chr2:96584699-96584700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11683886	chr2:96584701-96584702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113018869	chr2:96584709-96584710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377554156	chr2:96584766-96584767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112295445	chr2:96584773-96584774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566412057	chr2:96584804-96584805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534987391	chr2:96584813-96584814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547406031	chr2:96584829-96584830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570371911	chr2:96584905-96584906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539021542	chr2:96584920-96584921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111786265	chr2:96584924-96584925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555846532	chr2:96585025-96585026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372030196	chr2:96585058-96585059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548155833	chr2:96585073-96585074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72931783	chr2:96585091-96585092	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs181035137	chr2:96585105-96585106	Weak transcription Strong 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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96502800-96585000	Weak transcription	Left Ventricle	heart
2	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
3	chr2:96541000-96595400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:96541600-96595200	Weak transcription	Fetal Brain Male	brain
5	chr2:96543800-96596200	Weak transcription	K562	blood
6	chr2:96547000-96586400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:96549800-96588600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:96549800-96590600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:96551400-96600800	Weak transcription	Brain Angular Gyrus	brain
10	chr2:96551800-96588600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:96552400-96595400	Weak transcription	Fetal Kidney	kidney
12	chr2:96554200-96588600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:96556200-96645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:96556400-96585000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:96556400-96598800	Weak transcription	Fetal Heart	heart
16	chr2:96556400-96628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:96556400-96645000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:96557400-96656800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:96573200-96584800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:96573600-96587800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:96574200-96629600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:96574600-96627600	Weak transcription	HSMM	muscle
23	chr2:96575000-96600600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:96575200-96585000	Weak transcription	Lung	lung
25	chr2:96575200-96589800	Weak transcription	Colonic Mucosa	Colon
26	chr2:96575600-96588600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:96575800-96592400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:96575800-96595600	Strong transcription	Dnd41	blood
29	chr2:96576000-96594800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:96576400-96590400	Weak transcription	Right Ventricle	heart
31	chr2:96576600-96596200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:96576800-96596200	Weak transcription	Spleen	Spleen
33	chr2:96576800-96616200	Weak transcription	Brain Germinal Matrix	brain
34	chr2:96577000-96589200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:96577400-96585600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:96577600-96587800	Weak transcription	HMEC	breast
37	chr2:96577600-96590000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:96577600-96591600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:96577600-96592600	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:96577600-96593400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:96577600-96600200	Weak transcription	A549	lung
42	chr2:96577800-96588600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:96577800-96593200	Weak transcription	NHEK	skin
44	chr2:96577800-96594600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:96577800-96595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:96577800-96596400	Weak transcription	Brain Substantia Nigra	brain
47	chr2:96577800-96603400	Weak transcription	Osteobl	bone
48	chr2:96577800-96647800	Weak transcription	NHDF-Ad	bronchial
49	chr2:96577800-96651000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:96577800-96656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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