Variant report

Variant	esv1841939
Chromosome Location	chr2:141071674-141080797
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 230 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540048318	chr2:141075232-141075233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148493926	chr2:141075253-141075254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78227851	chr2:141075339-141075340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs694813	chr2:141075369-141075370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542307461	chr2:141075373-141075374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562185082	chr2:141075387-141075388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374602502	chr2:141075388-141075389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551035966	chr2:141075395-141075396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376914578	chr2:141075422-141075423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564621304	chr2:141075439-141075440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533628182	chr2:141075440-141075441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16843764	chr2:141075479-141075480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553445514	chr2:141075486-141075487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568537827	chr2:141075488-141075489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188495919	chr2:141075494-141075495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs193080786	chr2:141075515-141075516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74980772	chr2:141075519-141075520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13009775	chr2:141075564-141075565	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537436262	chr2:141075572-141075573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557778431	chr2:141075577-141075578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142591878	chr2:141075645-141075646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146489245	chr2:141075648-141075649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553797689	chr2:141075655-141075656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554762233	chr2:141075742-141075743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573749916	chr2:141075771-141075772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183941604	chr2:141076814-141076815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529702175	chr2:141076816-141076817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542915445	chr2:141076847-141076848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562701173	chr2:141076850-141076851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531801840	chr2:141076888-141076889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11674971	chr2:141076894-141076895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189442381	chr2:141076905-141076906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545773691	chr2:141076919-141076920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11674979	chr2:141076944-141076945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541516846	chr2:141077047-141077048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571281781	chr2:141077058-141077059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527263377	chr2:141077068-141077069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547125040	chr2:141077085-141077086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13022878	chr2:141077105-141077106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs536511192	chr2:141077153-141077154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528607251	chr2:141077160-141077161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556514097	chr2:141077175-141077176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115956826	chr2:141077180-141077181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552865230	chr2:141077212-141077213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558219086	chr2:141077242-141077243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571019530	chr2:141077243-141077244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12692048	chr2:141077257-141077258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs12692049	chr2:141077263-141077264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568577152	chr2:141077269-141077270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553700235	chr2:141077282-141077283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141075200-141075800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:141076800-141077000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:141077000-141080400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:141080400-141080800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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