Variant report

Variant	esv32701
Chromosome Location	chr2:151795563-151806213
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 361 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190506016	chr2:151795570-151795571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527665499	chr2:151795613-151795614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541499674	chr2:151795641-151795642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141676312	chr2:151795659-151795660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570801492	chr2:151795704-151795705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182747711	chr2:151795783-151795784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371535098	chr2:151795784-151795785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374959370	chr2:151795817-151795818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568619600	chr2:151795824-151795825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537509948	chr2:151795867-151795868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554570854	chr2:151795880-151795881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574375532	chr2:151795891-151795892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187078650	chr2:151795895-151795896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554148081	chr2:151795897-151795898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35146907	chr2:151795949-151795950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71893170	chr2:151795950-151795951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546137553	chr2:151795958-151795959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577205440	chr2:151795987-151795988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150547523	chr2:151796039-151796040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191573600	chr2:151796097-151796098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542241309	chr2:151796181-151796182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541989398	chr2:151796244-151796245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13031138	chr2:151796283-151796284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7586474	chr2:151796380-151796381	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs547385248	chr2:151796389-151796390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184475235	chr2:151796401-151796402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35089694	chr2:151796407-151796408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113637820	chr2:151796409-151796410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187804557	chr2:151796422-151796423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570121376	chr2:151796442-151796443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565187300	chr2:151796504-151796505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34529246	chr2:151796535-151796536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528283089	chr2:151796574-151796575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553375127	chr2:151796595-151796596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536025453	chr2:151796624-151796625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554400005	chr2:151796643-151796644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530688003	chr2:151796644-151796645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546726984	chr2:151796663-151796664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193141731	chr2:151796712-151796713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73006846	chr2:151796724-151796725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs577227968	chr2:151796746-151796747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375703159	chr2:151796747-151796748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142715756	chr2:151796970-151796971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373521993	chr2:151797049-151797050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200579411	chr2:151797100-151797101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34823195	chr2:151797101-151797102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147527947	chr2:151797113-151797114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79600761	chr2:151797121-151797122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114639980	chr2:151797124-151797125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375704632	chr2:151797234-151797235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
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
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151771200-151806800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:151794200-151795800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:151794800-151795800	Enhancers	NHDF-Ad	bronchial
4	chr2:151794800-151797600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:151795200-151795600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:151795200-151795600	Enhancers	Fetal Heart	heart
7	chr2:151795400-151796000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:151795400-151796000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:151795600-151796000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:151795600-151796000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:151795600-151796000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:151795600-151796000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:151795600-151796200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:151795600-151796200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:151797600-151797800	Enhancers	NHDF-Ad	bronchial
16	chr2:151800800-151806400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:151805400-151805600	Enhancers	Lung	lung

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