Variant report

Variant	esv20312
Chromosome Location	chr2:133351394-133352060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 57 )

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	rs185497142	chr2:133351395-133351396	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs572904274	chr2:133351411-133351412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540339484	chr2:133351414-133351415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs16837640	chr2:133351415-133351416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs151199337	chr2:133351438-133351439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201828784	chr2:133351472-133351473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551132585	chr2:133351486-133351487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79843521	chr2:133351532-133351533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12616407	chr2:133351549-133351550	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs552115460	chr2:133351570-133351571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566430416	chr2:133351597-133351598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140267452	chr2:133351599-133351600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201445689	chr2:133351608-133351609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190570726	chr2:133351632-133351633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192687974	chr2:133351671-133351672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12616464	chr2:133351703-133351704	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs73955746	chr2:133351719-133351720	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184486980	chr2:133351723-133351724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571115684	chr2:133351727-133351728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs16837647	chr2:133351728-133351729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116140808	chr2:133351740-133351741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188448270	chr2:133351769-133351770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540605270	chr2:133351772-133351773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77771065	chr2:133351831-133351832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574077006	chr2:133351852-133351853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181088563	chr2:133351863-133351864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563031463	chr2:133351869-133351870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185525910	chr2:133351871-133351872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533572622	chr2:133351931-133351932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545691328	chr2:133351942-133351943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368994535	chr2:133351962-133351963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573388932	chr2:133351970-133351971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560784622	chr2:133351984-133351985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188774321	chr2:133352001-133352002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4954346	chr2:133352060-133352061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133340400-133353600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:133344200-133363000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:133349600-133354000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:133349800-133352000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:133350400-133351800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:133350400-133351800	Enhancers	Fetal Intestine Large	intestine
7	chr2:133350400-133352000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:133350600-133351400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:133350600-133351400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:133350600-133351600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:133350800-133351400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:133350800-133351400	Enhancers	NH-A	brain
13	chr2:133350800-133351600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:133350800-133351800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:133351000-133351400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr2:133351000-133351600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:133351200-133351400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:133351200-133352000	Enhancers	Fetal Intestine Small	intestine
19	chr2:133351400-133352000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:133351600-133353200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:133351600-133354800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:133351800-133353000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:133351800-133354200	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:133352000-133353000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:133352000-133353200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:133352000-133362600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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