Variant report

Variant	nsv874015
Chromosome Location	chr2:49588657-49695453
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	chr2:49586512..49588631-chr2:49595229..49597558,2	K562	blood:

Extended variants
information (count: 1118 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1118 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs817081	chr2:49588657-49588658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537832934	chr2:49588666-49588667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549785112	chr2:49588688-49588689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571235103	chr2:49588698-49588699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552900483	chr2:49588714-49588715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35862274	chr2:49588723-49588724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538750811	chr2:49588728-49588729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553654617	chr2:49588730-49588731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571916619	chr2:49588745-49588746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536093398	chr2:49588753-49588754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554437669	chr2:49588761-49588762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113688821	chr2:49588781-49588782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540534049	chr2:49593017-49593018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs77939486	chr2:49593053-49593054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112340389	chr2:49593071-49593072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs817077	chr2:49593097-49593098	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186376583	chr2:49593132-49593133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs557818120	chr2:49593133-49593134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs572949826	chr2:49593166-49593167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs572917329	chr2:49593185-49593186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs191008283	chr2:49593309-49593310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111491705	chr2:49593371-49593372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555561350	chr2:49593387-49593388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573884299	chr2:49593408-49593409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544442021	chr2:49593411-49593412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562631826	chr2:49593414-49593415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182720630	chr2:49593461-49593462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545849659	chr2:49593484-49593485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564153732	chr2:49593487-49593488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528523966	chr2:49593497-49593498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546690582	chr2:49593554-49593555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568259845	chr2:49593562-49593563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1405954	chr2:49593587-49593588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529452635	chr2:49593609-49593610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187891125	chr2:49593654-49593655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569429914	chr2:49593673-49593674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192535696	chr2:49593782-49593783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551363319	chr2:49593787-49593788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182751487	chr2:49593807-49593808	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs146070614	chr2:49593838-49593839	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs555500153	chr2:49593886-49593887	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs138820037	chr2:49593892-49593893	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs142010825	chr2:49593905-49593906	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs556345415	chr2:49593917-49593918	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs577825391	chr2:49593919-49593920	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs146333837	chr2:49593970-49593971	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs561693235	chr2:49593974-49593975	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs568129403	chr2:49593993-49593994	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs139336804	chr2:49594004-49594005	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540268242	chr2:49594099-49594100	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49586600-49588800	Enhancers	Brain Germinal Matrix	brain
2	chr2:49593000-49593200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:49593200-49593800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:49593800-49594200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:49594000-49594400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:49594200-49594800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:49594400-49595400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:49594400-49597600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:49594800-49595400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:49595400-49596200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:49595600-49595800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:49596000-49596400	Enhancers	Fetal Brain Female	brain
13	chr2:49596200-49598600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:49596800-49597000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:49597000-49598000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:49597000-49598000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:49597600-49598000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:49598000-49598400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:49598000-49598600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:49598000-49598800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:49598200-49598400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr2:49598600-49601000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:49599000-49599200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:49601000-49601600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:49603400-49603800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:49603800-49604400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:49604000-49604600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr2:49604200-49605200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:49604400-49604600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:49610000-49610200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:49610200-49610600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:49610600-49610800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:49610800-49611000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:49611000-49611200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:49627400-49627600	Enhancers	Brain Germinal Matrix	brain
36	chr2:49628800-49629000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:49629200-49630800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:49630000-49631600	Enhancers	Brain Germinal Matrix	brain
39	chr2:49630400-49631200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr2:49630400-49631400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:49630400-49632400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:49630600-49632000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:49630600-49632200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr2:49630600-49632200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr2:49630800-49631600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:49630800-49632000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr2:49630800-49632000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:49631200-49631600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:49631400-49631800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr2:49631600-49632000	Enhancers	H1 Cell Line	embryonic stem cell

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