Variant report

Variant	esv13136
Chromosome Location	chr2:149199790-149202667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554951991	chr2:149199823-149199824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185081589	chr2:149199827-149199828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567064437	chr2:149199865-149199866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189596236	chr2:149199893-149199894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs67201811	chr2:149199912-149199913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs180719213	chr2:149199913-149199914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537945498	chr2:149199916-149199917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75840792	chr2:149199924-149199925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569477665	chr2:149199950-149199951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536432226	chr2:149199979-149199980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555115394	chr2:149200062-149200063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs67081781	chr2:149200070-149200071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540481220	chr2:149200094-149200095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185383582	chr2:149200124-149200125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141590821	chr2:149200179-149200180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67852977	chr2:149200203-149200204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs147033296	chr2:149200224-149200225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs67948770	chr2:149200232-149200233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541680978	chr2:149200261-149200262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560261395	chr2:149200265-149200266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527593703	chr2:149200387-149200388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552453514	chr2:149200404-149200405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564119606	chr2:149200405-149200406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35322519	chr2:149200408-149200409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35953155	chr2:149200414-149200415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531326956	chr2:149200468-149200469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148115237	chr2:149200484-149200485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190940933	chr2:149200510-149200511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140963934	chr2:149200522-149200523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150355569	chr2:149200548-149200549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72663333	chr2:149200575-149200576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs55891740	chr2:149200582-149200583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116490039	chr2:149200612-149200613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186045235	chr2:149200674-149200675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558814700	chr2:149200683-149200684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541668082	chr2:149200701-149200702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576861487	chr2:149200720-149200721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533693652	chr2:149200756-149200757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386651523	chr2:149200767-149200768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138015847	chr2:149200768-149200769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574853370	chr2:149200776-149200777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542267753	chr2:149200818-149200819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538270771	chr2:149200830-149200831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144705799	chr2:149200831-149200832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142542136	chr2:149200843-149200844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117127261	chr2:149200874-149200875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146038651	chr2:149200879-149200880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192063980	chr2:149200889-149200890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565662310	chr2:149200896-149200897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138754202	chr2:149200972-149200973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149172600-149205000	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:149174200-149221400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:149174400-149221400	Weak transcription	Primary B cells from cord blood	blood
4	chr2:149193000-149226000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:149193400-149221600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:149193600-149201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:149194000-149216200	Weak transcription	Fetal Intestine Small	intestine
8	chr2:149194800-149200200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:149194800-149216200	Weak transcription	Psoas Muscle	Psoas
10	chr2:149197000-149202400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:149198600-149221600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:149198600-149226000	Weak transcription	HSMM	muscle
13	chr2:149202200-149202400	Enhancers	Right Atrium	heart

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