Variant report

Variant	nsv518963
Chromosome Location	chr2:49038154-49052293
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	chr2:48996460..48999048-chr2:49041792..49043593,2	MCF-7	breast:

Extended variants
information (count: 638 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:638 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4256004	chr2:49038154-49038155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181329023	chr2:49038192-49038193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35625756	chr2:49038244-49038245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs78640999	chr2:49038257-49038258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541700637	chr2:49038272-49038273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149939755	chr2:49038329-49038330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530202097	chr2:49038355-49038356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372747758	chr2:49038363-49038364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563761525	chr2:49038372-49038373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531033738	chr2:49038430-49038431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552259770	chr2:49038467-49038468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148219932	chr2:49038488-49038489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372199006	chr2:49038490-49038491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144132103	chr2:49038539-49038540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185986188	chr2:49038577-49038578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528486484	chr2:49038582-49038583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78484326	chr2:49038664-49038665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148702504	chr2:49038670-49038671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12999088	chr2:49038671-49038672	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188990917	chr2:49038672-49038673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554746534	chr2:49038695-49038696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569790941	chr2:49038736-49038737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537103724	chr2:49038745-49038746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558689461	chr2:49038789-49038790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576881204	chr2:49038791-49038792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12998973	chr2:49038803-49038804	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs553040362	chr2:49038900-49038901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575057770	chr2:49038923-49038924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76859786	chr2:49038924-49038925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563900205	chr2:49038936-49038937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575749654	chr2:49038976-49038977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551204649	chr2:49038997-49038998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566547951	chr2:49039022-49039023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533571815	chr2:49039071-49039072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554940589	chr2:49039099-49039100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377493135	chr2:49039118-49039119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545862721	chr2:49039121-49039122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564254232	chr2:49039138-49039139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181864420	chr2:49039140-49039141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369983208	chr2:49039146-49039147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55930451	chr2:49039237-49039238	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529992632	chr2:49039238-49039239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569861746	chr2:49039253-49039254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78192079	chr2:49039259-49039260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537266748	chr2:49039296-49039297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552268920	chr2:49039309-49039310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570548689	chr2:49039311-49039312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187361204	chr2:49039312-49039313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552932720	chr2:49039313-49039314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12713016	chr2:49039343-49039344	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

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
Bladder cancer	21909424	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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48994600-49080200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:49032800-49039000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:49037200-49045400	Weak transcription	Ovary	ovary
4	chr2:49038600-49039800	Enhancers	Fetal Intestine Large	intestine
5	chr2:49039000-49040000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:49039200-49039800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:49039200-49039800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:49039200-49040000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:49039200-49040400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:49039400-49039600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:49039800-49043600	Weak transcription	Fetal Intestine Large	intestine
12	chr2:49040200-49040400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:49040400-49041200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:49041200-49041400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:49042400-49042600	Enhancers	Fetal Intestine Small	intestine
16	chr2:49042600-49043400	Weak transcription	Fetal Intestine Small	intestine
17	chr2:49043400-49045600	Enhancers	Fetal Intestine Small	intestine
18	chr2:49043600-49047000	Enhancers	Fetal Intestine Large	intestine
19	chr2:49045400-49045800	Enhancers	Ovary	ovary
20	chr2:49045800-49046000	Weak transcription	Ovary	ovary
21	chr2:49046000-49046600	Enhancers	Ovary	ovary
22	chr2:49046200-49047000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:49046200-49047800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:49046600-49053200	Weak transcription	Ovary	ovary

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