Variant report

Variant	esv3368451
Chromosome Location	chr2:152986763-152987501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140692209	chr2:152986802-152986803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150079615	chr2:152986804-152986805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536489735	chr2:152986827-152986828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112557913	chr2:152986835-152986836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552780341	chr2:152986851-152986852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531327777	chr2:152986852-152986853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532923859	chr2:152986877-152986878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367596827	chr2:152986922-152986923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573004646	chr2:152986927-152986928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189249398	chr2:152986979-152986980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371738761	chr2:152987012-152987013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34893830	chr2:152987031-152987032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112533158	chr2:152987055-152987056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72621654	chr2:152987056-152987057	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544572197	chr2:152987064-152987065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561663705	chr2:152987065-152987066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574918865	chr2:152987166-152987167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184980706	chr2:152987208-152987209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560354399	chr2:152987239-152987240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372366021	chr2:152987295-152987296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532484120	chr2:152987311-152987312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376598039	chr2:152987344-152987345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552114250	chr2:152987355-152987356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12614602	chr2:152987362-152987363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562548443	chr2:152987363-152987364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531641007	chr2:152987386-152987387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550592231	chr2:152987464-152987465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551657498	chr2:152987465-152987466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188184401	chr2:152987469-152987470	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
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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152968000-152995800	Weak transcription	HSMMtube	muscle
2	chr2:152969400-152989000	Weak transcription	HepG2	liver
3	chr2:152970000-152990800	Weak transcription	Stomach Mucosa	stomach
4	chr2:152970200-153003000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:152971200-153008400	Weak transcription	Esophagus	oesophagus
6	chr2:152971400-153002200	Weak transcription	Brain Anterior Caudate	brain
7	chr2:152972800-152991000	Weak transcription	Gastric	stomach
8	chr2:152974200-153001400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:152974200-153017000	Weak transcription	Colonic Mucosa	Colon
10	chr2:152974800-153002000	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:152974800-153003800	Weak transcription	NHEK	skin
12	chr2:152974800-153008200	Weak transcription	Fetal Brain Female	brain
13	chr2:152975000-152987800	Weak transcription	Right Ventricle	heart
14	chr2:152975000-153003200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:152975000-153003600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:152975000-153005400	Weak transcription	Brain Germinal Matrix	brain
17	chr2:152975200-152990000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:152975400-152988800	Weak transcription	A549	lung
19	chr2:152976000-153014800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:152976200-153010200	Weak transcription	Fetal Brain Male	brain
21	chr2:152976200-153013400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:152976400-152991400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:152976400-153005000	Weak transcription	Fetal Heart	heart
24	chr2:152976400-153013400	Weak transcription	Brain Angular Gyrus	brain
25	chr2:152976600-152991000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:152976600-152991200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:152976600-152991400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:152976800-152991000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:152976800-152991200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:152976800-152991200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:152976800-153003000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:152977000-152991000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:152977400-153006200	Weak transcription	HMEC	breast
34	chr2:152977600-152990600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:152978000-153001600	Weak transcription	Lung	lung
36	chr2:152978200-153000000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:152978200-153021400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:152978400-152991000	Weak transcription	HUVEC	blood vessel
39	chr2:152978400-153003400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr2:152979000-153001400	Weak transcription	Small Intestine	intestine
41	chr2:152979000-153002000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:152979400-153001400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:152979600-152987000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:152979600-152987800	Weak transcription	Thymus	Thymus
45	chr2:152979600-152997400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:152979600-152999000	Weak transcription	Fetal Thymus	thymus
47	chr2:152979600-152999600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:152979600-153001600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:152979800-152991400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:152980200-153001200	Weak transcription	Aorta	Aorta

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