Variant report

Variant	esv3429993
Chromosome Location	chr2:152497413-152502266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152492617..152495101-chr2:152500321..152502341,2	K562	blood:
2	chr2:152499221..152501472-chr2:152507320..152509759,2	K562	blood:

Extended variants
information (count: 206 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:206 , 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	rs544527677	chr2:152497413-152497414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574366255	chr2:152497442-152497443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533774197	chr2:152497446-152497447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59493296	chr2:152497544-152497545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368941494	chr2:152497550-152497551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112406355	chr2:152497600-152497601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376723012	chr2:152497608-152497609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72621644	chr2:152497609-152497610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562906648	chr2:152497616-152497617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560249971	chr2:152497626-152497627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13428975	chr2:152497631-152497632	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4564765	chr2:152497648-152497649	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181805354	chr2:152497659-152497660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140171212	chr2:152497663-152497664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373107685	chr2:152497716-152497717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143936529	chr2:152497723-152497724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369010036	chr2:152497760-152497761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568362014	chr2:152497799-152497800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539770919	chr2:152497810-152497811	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534153627	chr2:152497818-152497819	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144769173	chr2:152497828-152497829	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543983879	chr2:152497838-152497839	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13429205	chr2:152497873-152497874	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372731855	chr2:152497927-152497928	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186981408	chr2:152497952-152497953	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564017545	chr2:152497985-152497986	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13426673	chr2:152498002-152498003	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539569696	chr2:152498033-152498034	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558313733	chr2:152498051-152498052	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190559725	chr2:152498092-152498093	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78261389	chr2:152498142-152498143	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528223952	chr2:152498149-152498150	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554800005	chr2:152498152-152498153	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182267940	chr2:152498207-152498208	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540200461	chr2:152498247-152498248	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368108960	chr2:152498253-152498254	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527480768	chr2:152498257-152498258	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78775419	chr2:152498293-152498294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185184424	chr2:152498310-152498311	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189852571	chr2:152498325-152498326	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566299587	chr2:152498353-152498354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150875491	chr2:152498375-152498376	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375992994	chr2:152498376-152498377	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531980706	chr2:152498428-152498429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548502763	chr2:152498444-152498445	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562368741	chr2:152498455-152498456	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111868589	chr2:152498466-152498467	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149997606	chr2:152498473-152498474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182521252	chr2:152498479-152498480	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570017063	chr2:152498482-152498483	Weak transcription Strong transcription 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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152482000-152502400	Strong transcription	Fetal Muscle Leg	muscle
2	chr2:152482000-152507600	Strong transcription	Fetal Muscle Trunk	muscle
3	chr2:152488600-152499400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:152489600-152505200	Strong transcription	HSMMtube	muscle
5	chr2:152492000-152504000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:152492000-152506800	Weak transcription	Psoas Muscle	Psoas
7	chr2:152495000-152501800	Weak transcription	Right Ventricle	heart
8	chr2:152495200-152500000	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:152495200-152502400	Weak transcription	Aorta	Aorta
10	chr2:152496000-152497800	Weak transcription	HepG2	liver
11	chr2:152497000-152497800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:152497200-152500200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:152497800-152498000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:152497800-152499800	Enhancers	HepG2	liver
15	chr2:152498000-152501400	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:152500000-152500400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:152500000-152512200	Weak transcription	Pancreas	Pancrea
18	chr2:152500400-152506600	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:152501400-152502600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:152501400-152503600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:152502200-152523000	Weak transcription	Placenta	Placenta

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