Variant report

Variant	esv3347991
Chromosome Location	chr2:142612824-142613396
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	chr2:142601107..142603350-chr2:142610818..142614066,3	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199609059	chr2:142612838-142612839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556426198	chr2:142612839-142612840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16847376	chr2:142612853-142612854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189953474	chr2:142612862-142612863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11894216	chr2:142612863-142612864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568755998	chr2:142612873-142612874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16847378	chr2:142612883-142612884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535880313	chr2:142612889-142612890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140757969	chr2:142612896-142612897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555884812	chr2:142612903-142612904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181670939	chr2:142612911-142612912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75826307	chr2:142612930-142612931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531794428	chr2:142612944-142612945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551422346	chr2:142612956-142612957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187128625	chr2:142613009-142613010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534170936	chr2:142613021-142613022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553904799	chr2:142613037-142613038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs16847381	chr2:142613046-142613047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79782975	chr2:142613060-142613061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558264478	chr2:142613074-142613075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189446021	chr2:142613078-142613079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181924178	chr2:142613104-142613105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76197559	chr2:142613162-142613163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558650846	chr2:142613169-142613170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58548197	chr2:142613195-142613196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572067153	chr2:142613268-142613269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541006769	chr2:142613280-142613281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185188820	chr2:142613304-142613305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189945112	chr2:142613315-142613316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114547032	chr2:142613318-142613319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182968774	chr2:142613319-142613320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563966300	chr2:142613323-142613324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531758384	chr2:142613331-142613332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12691623	chr2:142613334-142613335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552760641	chr2:142613380-142613381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142609000-142613800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links