Variant report

Variant	nsv581823
Chromosome Location	chr2:49565575-49650145
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:
2	chr2:49586512..49588631-chr2:49595229..49597558,2	K562	blood:

Extended variants
information (count: 1318 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1318 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6545107	chr2:49565575-49565576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187408116	chr2:49565659-49565660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114825169	chr2:49565672-49565673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369957954	chr2:49565694-49565695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192296671	chr2:49565711-49565712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558243547	chr2:49565713-49565714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144282999	chr2:49565747-49565748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185600849	chr2:49565821-49565822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561917537	chr2:49565829-49565830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574824231	chr2:49565830-49565831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542140459	chr2:49565882-49565883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549255339	chr2:49565922-49565923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559748324	chr2:49565923-49565924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530734241	chr2:49565924-49565925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372319373	chr2:49565929-49565930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147057915	chr2:49565930-49565931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377734529	chr2:49565931-49565932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545647040	chr2:49565987-49565988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571147569	chr2:49565997-49565998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562437321	chr2:49566003-49566004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531245787	chr2:49566031-49566032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564230070	chr2:49566039-49566040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148337177	chr2:49566046-49566047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141510011	chr2:49566055-49566056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147519506	chr2:49566069-49566070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77981836	chr2:49566090-49566091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550869490	chr2:49566112-49566113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140101879	chr2:49566125-49566126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373278697	chr2:49566174-49566175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114064019	chr2:49566177-49566178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76408942	chr2:49566183-49566184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190579545	chr2:49566224-49566225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144063775	chr2:49566225-49566226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192693999	chr2:49566268-49566269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184137999	chr2:49566283-49566284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1881111	chr2:49566310-49566311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532230738	chr2:49566317-49566318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116316236	chr2:49566335-49566336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546822572	chr2:49566347-49566348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139411535	chr2:49566354-49566355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72884861	chr2:49566382-49566383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535512497	chr2:49566387-49566388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373925770	chr2:49566388-49566389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188163121	chr2:49566389-49566390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149889071	chr2:49566398-49566399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181092323	chr2:49566424-49566425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528870636	chr2:49566427-49566428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112367950	chr2:49566443-49566444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550129264	chr2:49566459-49566460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569234678	chr2:49566465-49566466	Weak transcription Enhancers	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
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

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49564800-49570600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:49565400-49566400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:49565400-49566600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:49566400-49566800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:49566600-49566800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:49566600-49567000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:49570600-49570800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:49570800-49571000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:49578800-49579800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:49580800-49581000	Bivalent Enhancer	Aorta	Aorta
11	chr2:49580800-49581000	Enhancers	Lung	lung
12	chr2:49583200-49583400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:49583200-49583400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:49583400-49586400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:49583400-49587600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:49585400-49585600	Enhancers	Fetal Brain Female	brain
17	chr2:49585600-49586600	Weak transcription	Fetal Brain Female	brain
18	chr2:49586400-49587800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:49586400-49588000	Enhancers	Fetal Brain Male	brain
20	chr2:49586600-49587200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:49586600-49587600	Enhancers	Fetal Brain Female	brain
22	chr2:49586600-49588000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:49586600-49588800	Enhancers	Brain Germinal Matrix	brain
24	chr2:49587000-49587400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:49587000-49587800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:49587000-49588000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:49587000-49588000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr2:49587200-49587800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:49587200-49588000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:49587400-49587800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr2:49587600-49588000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:49587800-49588000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:49593000-49593200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:49593200-49593800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:49593800-49594200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:49594000-49594400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:49594200-49594800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:49594400-49595400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:49594400-49597600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:49594800-49595400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:49595400-49596200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:49595600-49595800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:49596000-49596400	Enhancers	Fetal Brain Female	brain
44	chr2:49596200-49598600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:49596800-49597000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr2:49597000-49598000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:49597000-49598000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:49597600-49598000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:49598000-49598400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:49598000-49598600	Enhancers	HUES64 Cell Line	embryonic stem cell

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