Variant report

Variant	nsv1011016
Chromosome Location	chr2:49031921-49053699
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: 998 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:998 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6721901	chr2:49031921-49031922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577847735	chr2:49031943-49031944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545316340	chr2:49031953-49031954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552842643	chr2:49032052-49032053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559914876	chr2:49032057-49032058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527490626	chr2:49032095-49032096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201912651	chr2:49032101-49032102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542266815	chr2:49032108-49032109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375522720	chr2:49032142-49032143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190569995	chr2:49032151-49032152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114807533	chr2:49032184-49032185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116751982	chr2:49032217-49032218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs70946829	chr2:49032261-49032262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6725364	chr2:49032277-49032278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs142134095	chr2:49032297-49032298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376742498	chr2:49032298-49032299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548148964	chr2:49032343-49032344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145844606	chr2:49032364-49032365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536842344	chr2:49032431-49032432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138453062	chr2:49032456-49032457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570180147	chr2:49032472-49032473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371303532	chr2:49032494-49032495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537589637	chr2:49032515-49032516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537363381	chr2:49032537-49032538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558660458	chr2:49032552-49032553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577216785	chr2:49032600-49032601	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538548729	chr2:49032608-49032609	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114910962	chr2:49032641-49032642	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201336570	chr2:49032671-49032672	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111310333	chr2:49032684-49032685	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71399086	chr2:49032685-49032686	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369894650	chr2:49032686-49032687	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76575979	chr2:49032689-49032690	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112188480	chr2:49032698-49032699	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143083522	chr2:49032701-49032702	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150615188	chr2:49032708-49032709	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537011889	chr2:49032711-49032712	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35192775	chr2:49032712-49032713	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201116733	chr2:49032713-49032714	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146354802	chr2:49032715-49032716	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111748668	chr2:49032725-49032726	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142012281	chr2:49032729-49032730	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542426548	chr2:49032732-49032733	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547422501	chr2:49032760-49032761	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150709248	chr2:49032765-49032766	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543550961	chr2:49032766-49032767	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10191910	chr2:49032793-49032794	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576991881	chr2:49032797-49032798	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532142393	chr2:49032812-49032813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548064796	chr2:49032817-49032818	Weak transcription	n/a	n/a	Overlapped CNVs	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48994600-49080200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:49027200-49037000	Weak transcription	Ovary	ovary
3	chr2:49032600-49032800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr2:49032600-49032800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:49032800-49039000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:49037000-49037200	Strong transcription	Ovary	ovary
7	chr2:49037200-49045400	Weak transcription	Ovary	ovary
8	chr2:49038600-49039800	Enhancers	Fetal Intestine Large	intestine
9	chr2:49039000-49040000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:49039200-49039800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:49039200-49039800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:49039200-49040000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:49039200-49040400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:49039400-49039600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:49039800-49043600	Weak transcription	Fetal Intestine Large	intestine
16	chr2:49040200-49040400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:49040400-49041200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:49041200-49041400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:49042400-49042600	Enhancers	Fetal Intestine Small	intestine
20	chr2:49042600-49043400	Weak transcription	Fetal Intestine Small	intestine
21	chr2:49043400-49045600	Enhancers	Fetal Intestine Small	intestine
22	chr2:49043600-49047000	Enhancers	Fetal Intestine Large	intestine
23	chr2:49045400-49045800	Enhancers	Ovary	ovary
24	chr2:49045800-49046000	Weak transcription	Ovary	ovary
25	chr2:49046000-49046600	Enhancers	Ovary	ovary
26	chr2:49046200-49047000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:49046200-49047800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:49046600-49053200	Weak transcription	Ovary	ovary

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