Variant report

Variant	esv3459834
Chromosome Location	chr2:151785201-151789240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139844921	chr2:151785203-151785204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs59170415	chr2:151785209-151785210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184777659	chr2:151785214-151785215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562863921	chr2:151785232-151785233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529020568	chr2:151785275-151785276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376417970	chr2:151785285-151785286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34146523	chr2:151785337-151785338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1465234	chr2:151785370-151785371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs35034680	chr2:151785375-151785376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111622675	chr2:151785400-151785401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1465235	chr2:151785424-151785425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs57833369	chr2:151785426-151785427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551356266	chr2:151785437-151785438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571458190	chr2:151785438-151785439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6713905	chr2:151785451-151785452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143240829	chr2:151785490-151785491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556757829	chr2:151785542-151785543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573465972	chr2:151785582-151785583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79806937	chr2:151785596-151785597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180896690	chr2:151785626-151785627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573283348	chr2:151785664-151785665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184958568	chr2:151785735-151785736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12465911	chr2:151785742-151785743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189423672	chr2:151785745-151785746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201989598	chr2:151785751-151785752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371288933	chr2:151785752-151785753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544894483	chr2:151785805-151785806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146227609	chr2:151785829-151785830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373320340	chr2:151785830-151785831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375033663	chr2:151785836-151785837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530354184	chr2:151785837-151785838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549399677	chr2:151785887-151785888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181826637	chr2:151785896-151785897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114461029	chr2:151785940-151785941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201598902	chr2:151785957-151785958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373578291	chr2:151786013-151786014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542394109	chr2:151786036-151786037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562181865	chr2:151786045-151786046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528145085	chr2:151786061-151786062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527374936	chr2:151786083-151786084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538216397	chr2:151786100-151786101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12613613	chr2:151786131-151786132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs139077144	chr2:151786144-151786145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187127337	chr2:151786186-151786187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7568567	chr2:151786203-151786204	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567199976	chr2:151786290-151786291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536089292	chr2:151786312-151786313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553122844	chr2:151786359-151786360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573266320	chr2:151786364-151786365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539077282	chr2:151786365-151786366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
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
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

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151769000-151788200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:151771200-151806800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:151780800-151787600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:151782000-151787400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:151782400-151787400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:151786200-151786400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:151786400-151788400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:151787400-151788600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:151787400-151788800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:151787400-151789000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:151787600-151787800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:151787800-151788200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:151787800-151789200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:151788000-151788800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:151788000-151789000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:151788000-151789200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:151788200-151789000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:151788200-151789000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:151788200-151789200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:151788200-151789200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:151788200-151789400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:151788400-151788800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:151788400-151788800	Bivalent Enhancer	Aorta	Aorta
24	chr2:151788400-151789000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:151788800-151789000	Active TSS	Aorta	Aorta

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