Variant report

Variant	nsv979135
Chromosome Location	chr2:152490028-152490528
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554104620	chr2:152490040-152490041	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576589999	chr2:152490075-152490076	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544837067	chr2:152490087-152490088	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564755487	chr2:152490143-152490144	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530692325	chr2:152490193-152490194	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375811851	chr2:152490209-152490210	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550493617	chr2:152490212-152490213	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6709886	chr2:152490219-152490220	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs187637065	chr2:152490228-152490229	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543100735	chr2:152490230-152490231	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs193042896	chr2:152490236-152490237	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367739638	chr2:152490237-152490238	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371174518	chr2:152490267-152490268	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552774805	chr2:152490312-152490313	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374734631	chr2:152490387-152490388	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143473183	chr2:152490401-152490402	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538524863	chr2:152490404-152490405	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201176993	chr2:152490427-152490428	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375216659	chr2:152490428-152490429	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147168910	chr2:152490443-152490444	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533898172	chr2:152490449-152490450	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369667745	chr2:152490453-152490454	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373453206	chr2:152490456-152490457	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6710212	chr2:152490458-152490459	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
25	rs185695867	chr2:152490527-152490528	Weak transcription Strong transcription Genic enhancers	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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152465400-152491400	Weak transcription	Primary B cells from cord blood	blood
2	chr2:152467800-152491400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:152472000-152491800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:152482000-152502400	Strong transcription	Fetal Muscle Leg	muscle
5	chr2:152482000-152507600	Strong transcription	Fetal Muscle Trunk	muscle
6	chr2:152482800-152493800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:152482800-152494800	Weak transcription	Gastric	stomach
8	chr2:152485400-152492400	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:152487800-152490200	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:152488600-152499400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:152489200-152492000	Strong transcription	Psoas Muscle	Psoas
12	chr2:152489400-152490400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:152489600-152490400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:152489600-152490400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr2:152489600-152490400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:152489600-152505200	Strong transcription	HSMMtube	muscle
17	chr2:152489800-152490400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:152490000-152490400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:152490000-152492600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:152490200-152490800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:152490200-152492600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:152490400-152491400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:152490400-152491800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:152490400-152492200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:152490400-152492600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr2:152490400-152492600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:152490400-152492800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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