Variant report

Variant	esv3420047
Chromosome Location	chr2:141505382-141506930
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: 73 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2218241	chr2:141505389-141505390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12999882	chr2:141505404-141505405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114887520	chr2:141505411-141505412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144552995	chr2:141505423-141505424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12999916	chr2:141505455-141505456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184005155	chr2:141505462-141505463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188550342	chr2:141505467-141505468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148531915	chr2:141505481-141505482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551355746	chr2:141505482-141505483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531102818	chr2:141505494-141505495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs68114789	chr2:141505542-141505543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs527241336	chr2:141505568-141505569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377287046	chr2:141505638-141505639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370410626	chr2:141505662-141505663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71348757	chr2:141505691-141505692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374648958	chr2:141505693-141505694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201715706	chr2:141505705-141505706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs67552672	chr2:141505789-141505790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372415441	chr2:141505859-141505860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs70988423	chr2:141505863-141505864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs70988424	chr2:141505870-141505871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112202553	chr2:141505885-141505886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568499355	chr2:141505892-141505893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182870862	chr2:141505912-141505913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564729309	chr2:141505932-141505933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200993054	chr2:141505934-141505935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529979228	chr2:141505947-141505948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368147468	chr2:141505968-141505969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs70988426	chr2:141506008-141506009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201577651	chr2:141506010-141506011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200044474	chr2:141506011-141506012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376251247	chr2:141506026-141506027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187207492	chr2:141506066-141506067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191667596	chr2:141506093-141506094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111902986	chr2:141506162-141506163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549877387	chr2:141506178-141506179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569324514	chr2:141506179-141506180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538449765	chr2:141506180-141506181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs70988428	chr2:141506195-141506196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115458546	chr2:141506209-141506210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs66467750	chr2:141506322-141506323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374782435	chr2:141506342-141506343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370985986	chr2:141506344-141506345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367625762	chr2:141506346-141506347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9678188	chr2:141506353-141506354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577920334	chr2:141506358-141506359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7609224	chr2:141506362-141506363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200221537	chr2:141506365-141506366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs66998697	chr2:141506367-141506368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7568611	chr2:141506388-141506389	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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