Variant report

Variant	nsv874099
Chromosome Location	chr2:52233463-52279199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:52261393..52263430-chr2:52272675..52274372,2	K562	blood:
2	chr2:52239790..52242380-chr2:52244407..52246519,2	K562	blood:
3	chr2:52239790..52242380-chr2:52244407..52246519,2	K562	blood:
4	chr2:52261393..52263430-chr2:52272675..52274372,2	K562	blood:

Extended variants
information (count: 1281 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1281 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6736403	chr2:52233463-52233464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142019876	chr2:52233502-52233503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527356497	chr2:52233518-52233519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529880307	chr2:52233519-52233520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs57318856	chr2:52233522-52233523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115707529	chr2:52233525-52233526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554971153	chr2:52233562-52233563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200101158	chr2:52233616-52233617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543699826	chr2:52233619-52233620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72882350	chr2:52233643-52233644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190011704	chr2:52233644-52233645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541156087	chr2:52233656-52233657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559199927	chr2:52233677-52233678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35274086	chr2:52233758-52233759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200863343	chr2:52233768-52233769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376469005	chr2:52233802-52233803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548445086	chr2:52233810-52233811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562906726	chr2:52233822-52233823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369669365	chr2:52233833-52233834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371995682	chr2:52233920-52233921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7586525	chr2:52233947-52233948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs10166182	chr2:52233950-52233951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs571837458	chr2:52233957-52233958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532579114	chr2:52233972-52233973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373242963	chr2:52233973-52233974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566059344	chr2:52233978-52233979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182597628	chr2:52234004-52234005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376866498	chr2:52234049-52234050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6545248	chr2:52234053-52234054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186550377	chr2:52234056-52234057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191324431	chr2:52234078-52234079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558877485	chr2:52234087-52234088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577034791	chr2:52234092-52234093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534538865	chr2:52234130-52234131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553085906	chr2:52234133-52234134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377303994	chr2:52234134-52234135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541517043	chr2:52234137-52234138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7595843	chr2:52234143-52234144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574874293	chr2:52234148-52234149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543739233	chr2:52234151-52234152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372736852	chr2:52234163-52234164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565452707	chr2:52234173-52234174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532809479	chr2:52234175-52234176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547674443	chr2:52234192-52234193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7595925	chr2:52234196-52234197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs552327924	chr2:52234209-52234210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35192953	chr2:52234256-52234257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs34725665	chr2:52234292-52234293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537459953	chr2:52234303-52234304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374380083	chr2:52234316-52234317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Bipolar disorder	19114987	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52232400-52239600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:52235400-52235600	ZNF genes & repeats	Pancreas	Pancrea
3	chr2:52235600-52236600	Weak transcription	Pancreas	Pancrea
4	chr2:52236800-52237000	Enhancers	Pancreas	Pancrea
5	chr2:52239600-52239800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:52244200-52245000	Enhancers	Fetal Heart	heart
7	chr2:52244400-52245600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:52244600-52245600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:52244600-52245600	Enhancers	Fetal Intestine Large	intestine
10	chr2:52244800-52245600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:52247200-52247600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:52248600-52249200	Enhancers	Fetal Brain Female	brain
13	chr2:52248800-52249600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:52249600-52266600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:52260600-52263000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:52261400-52265200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:52261600-52261800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:52261600-52262400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:52261600-52262800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:52261800-52264600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:52262000-52262200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr2:52262000-52262200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr2:52262000-52262600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:52262000-52264600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:52262200-52263400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:52262400-52264000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:52262600-52262800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:52262800-52263800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:52262800-52263800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:52263400-52263600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr2:52263600-52264400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:52263800-52264000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:52264000-52264400	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr2:52264000-52264800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:52264200-52264400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:52264200-52264400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:52264400-52264800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:52264400-52265600	Enhancers	H9 Cell Line	embryonic stem cell
39	chr2:52264600-52264800	Enhancers	H1 Cell Line	embryonic stem cell

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