Variant report

Variant	esv2760590
Chromosome Location	chr2:51517041-51525025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 252 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184792004	chr2:51517055-51517056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188292389	chr2:51517143-51517144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72832145	chr2:51517156-51517157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs180696358	chr2:51517171-51517172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145522647	chr2:51517183-51517184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567047573	chr2:51517190-51517191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531015724	chr2:51517240-51517241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13004205	chr2:51517251-51517252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62140725	chr2:51517317-51517318	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs72832146	chr2:51517334-51517335	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546546727	chr2:51517335-51517336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568072120	chr2:51517410-51517411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116390818	chr2:51517414-51517415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550535864	chr2:51517423-51517424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185850291	chr2:51517433-51517434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539144467	chr2:51517435-51517436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191398934	chr2:51517438-51517439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72832147	chr2:51517448-51517449	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371550535	chr2:51517476-51517477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146950889	chr2:51517624-51517625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181818164	chr2:51517628-51517629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186914853	chr2:51517629-51517630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541895667	chr2:51517651-51517652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563695866	chr2:51517657-51517658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375266074	chr2:51517662-51517663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114097161	chr2:51517689-51517690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546280655	chr2:51517711-51517712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564292455	chr2:51517728-51517729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs723713	chr2:51517775-51517776	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs541473344	chr2:51517788-51517789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372720779	chr2:51517789-51517790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191453876	chr2:51517791-51517792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147623392	chr2:51517830-51517831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550352977	chr2:51517883-51517884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374724196	chr2:51517933-51517934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532877473	chr2:51517946-51517947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56724186	chr2:51518093-51518094	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561244663	chr2:51518198-51518199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566208263	chr2:51518251-51518252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62140726	chr2:51518268-51518269	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553519333	chr2:51518302-51518303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183367251	chr2:51518313-51518314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146257880	chr2:51518357-51518358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545055605	chr2:51518384-51518385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138880107	chr2:51518395-51518396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575677536	chr2:51518460-51518461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546343964	chr2:51518469-51518470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34161862	chr2:51518491-51518492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558313689	chr2:51518502-51518503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186081153	chr2:51518504-51518505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51502600-51518000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:51511600-51518600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:51511800-51517400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:51517000-51520200	Weak transcription	Liver	Liver
5	chr2:51517200-51517600	Enhancers	NH-A	brain
6	chr2:51517400-51518400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:51517400-51518600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:51517400-51518600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:51517400-51518600	Enhancers	HUVEC	blood vessel
10	chr2:51517400-51518800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:51517600-51518400	Weak transcription	NH-A	brain
12	chr2:51517600-51519000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:51517800-51518400	Enhancers	Osteobl	bone
14	chr2:51517800-51518800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:51518000-51519200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:51518000-51521200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:51518400-51519200	Enhancers	NH-A	brain
18	chr2:51518600-51518800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:51518600-51519000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:51518800-51519400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:51518800-51519600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr2:51518800-51519600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr2:51519000-51519200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr2:51519000-51519600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr2:51519000-51519800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:51519200-51519400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:51519200-51519600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:51519200-51519600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:51519400-51519600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr2:51519400-51519600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:51519600-51520200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:51519600-51520200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:51519600-51520400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:51519600-51520600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:51519600-51521000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:51520200-51520600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:51520200-51522200	Enhancers	Liver	Liver
38	chr2:51520600-51521000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr2:51524600-51525000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:51524600-51525000	Enhancers	Fetal Kidney	kidney

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