Variant report

Variant	esv3390286
Chromosome Location	chr2:141504707-141507655
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	chr2:141503402..141505492-chr2:141538809..141541757,2	K562	blood:

Extended variants
information (count: 126 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs387927	chr2:141504719-141504720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555980974	chr2:141504742-141504743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575846800	chr2:141504746-141504747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576125006	chr2:141504755-141504756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75360763	chr2:141504777-141504778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146020569	chr2:141504888-141504889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138661943	chr2:141504901-141504902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1441451	chr2:141504920-141504921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75968536	chr2:141504946-141504947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72925883	chr2:141504947-141504948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373727318	chr2:141504957-141504958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367868344	chr2:141504980-141504981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563462999	chr2:141505001-141505002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs410709	chr2:141505007-141505008	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189915733	chr2:141505064-141505065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551686379	chr2:141505076-141505077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77676216	chr2:141505094-141505095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559215719	chr2:141505105-141505106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533788751	chr2:141505158-141505159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544381594	chr2:141505159-141505160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547477581	chr2:141505213-141505214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567375442	chr2:141505257-141505258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180888174	chr2:141505263-141505264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185936257	chr2:141505279-141505280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562774372	chr2:141505295-141505296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192026516	chr2:141505296-141505297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs80293235	chr2:141505318-141505319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543217787	chr2:141505345-141505346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116314138	chr2:141505353-141505354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2218241	chr2:141505389-141505390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs12999882	chr2:141505404-141505405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114887520	chr2:141505411-141505412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144552995	chr2:141505423-141505424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12999916	chr2:141505455-141505456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184005155	chr2:141505462-141505463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188550342	chr2:141505467-141505468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148531915	chr2:141505481-141505482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551355746	chr2:141505482-141505483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531102818	chr2:141505494-141505495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs68114789	chr2:141505542-141505543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs527241336	chr2:141505568-141505569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377287046	chr2:141505638-141505639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370410626	chr2:141505662-141505663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71348757	chr2:141505691-141505692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374648958	chr2:141505693-141505694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201715706	chr2:141505705-141505706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs67552672	chr2:141505789-141505790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372415441	chr2:141505859-141505860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs70988423	chr2:141505863-141505864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs70988424	chr2:141505870-141505871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141504600-141505600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:141504800-141505600	Enhancers	GM12878-XiMat	blood
3	chr2:141505600-141508400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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