Variant report

Variant	nsv874027
Chromosome Location	chr2:49862134-49956426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:49939308..49942283-chr2:49943877..49945458,2	MCF-7	breast:
2	chr2:49946532..49948870-chr2:49954270..49956341,2	K562	blood:
3	chr2:49914681..49916077-chr2:50370732..50372339,6	MCF-7	breast:
4	chr2:49946532..49948870-chr2:49954270..49956341,2	K562	blood:
5	chr2:49939308..49942283-chr2:49943877..49945458,2	MCF-7	breast:

Extended variants
information (count: 1025 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1025 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7564547	chr2:49862134-49862135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576291252	chr2:49862156-49862157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544582899	chr2:49862205-49862206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562916325	chr2:49862273-49862274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578078642	chr2:49862286-49862287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371946933	chr2:49862317-49862318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149653253	chr2:49862318-49862319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374035145	chr2:49862391-49862392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527866747	chr2:49862398-49862399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549347222	chr2:49862424-49862425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76350677	chr2:49862444-49862445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540854026	chr2:49862450-49862451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7565004	chr2:49862470-49862471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139050221	chr2:49862491-49862492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115602257	chr2:49862515-49862516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547058693	chr2:49862520-49862521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565465540	chr2:49862525-49862526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536431302	chr2:49862533-49862534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554508290	chr2:49862540-49862541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116828124	chr2:49862546-49862547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61657528	chr2:49862559-49862560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374283859	chr2:49862560-49862561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377491641	chr2:49862561-49862562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190101272	chr2:49862589-49862590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558908227	chr2:49862598-49862599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181803771	chr2:49862606-49862607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373093766	chr2:49862630-49862631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186367507	chr2:49862678-49862679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377560764	chr2:49862684-49862685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572490954	chr2:49862725-49862726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537801381	chr2:49862754-49862755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189601338	chr2:49862759-49862760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557803820	chr2:49862768-49862769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561279830	chr2:49862803-49862804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577786023	chr2:49862811-49862812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370502398	chr2:49862822-49862823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376069838	chr2:49862865-49862866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543672551	chr2:49862867-49862868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180871547	chr2:49862875-49862876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143988956	chr2:49862881-49862882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547023405	chr2:49862891-49862892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565427902	chr2:49862927-49862928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529797447	chr2:49862935-49862936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146444788	chr2:49862976-49862977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569719230	chr2:49862993-49862994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537274444	chr2:49863018-49863019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540311201	chr2:49863044-49863045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185129484	chr2:49863087-49863088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570794184	chr2:49863089-49863090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76580798	chr2:49863095-49863096	Weak transcription	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49859000-49866400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:49865600-49865800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:49867200-49868800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:49867400-49867600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:49867400-49868400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:49867400-49868600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:49867400-49868600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:49867400-49868800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:49867400-49868800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:49867600-49868200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr2:49867600-49868400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr2:49867600-49868800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:49867800-49868400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr2:49868200-49869000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:49882600-49883000	Enhancers	Brain Hippocampus Middle	brain
16	chr2:49882800-49883200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:49898800-49899200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:49899600-49900800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:49900800-49902800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:49902000-49902600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:49902800-49903600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:49905200-49905400	Enhancers	Lung	lung
23	chr2:49909000-49909600	Enhancers	Adipose Nuclei	Adipose
24	chr2:49913400-49913800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:49914200-49915800	Enhancers	Fetal Brain Male	brain
26	chr2:49939000-49939800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:49939600-49939800	Enhancers	Right Ventricle	heart
28	chr2:49939800-49943000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:49940200-49941600	Weak transcription	Right Ventricle	heart
30	chr2:49941000-49941400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:49941200-49941800	Enhancers	Gastric	stomach
32	chr2:49941200-49941800	ZNF genes & repeats	Pancreas	Pancrea
33	chr2:49941400-49945200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:49941600-49941800	Enhancers	Right Ventricle	heart
35	chr2:49941600-49942000	Enhancers	Stomach Mucosa	stomach
36	chr2:49941800-49943000	Weak transcription	Gastric	stomach
37	chr2:49941800-49943000	Weak transcription	Pancreas	Pancrea
38	chr2:49941800-49943400	Weak transcription	Right Ventricle	heart
39	chr2:49942000-49943000	Weak transcription	Stomach Mucosa	stomach
40	chr2:49943000-49943800	Enhancers	Gastric	stomach
41	chr2:49943000-49943800	Enhancers	Pancreas	Pancrea
42	chr2:49943000-49943800	Enhancers	Stomach Mucosa	stomach
43	chr2:49943000-49944000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:49943400-49943800	Enhancers	Right Ventricle	heart
45	chr2:49945200-49947800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:49946200-49946600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:49946400-49947200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr2:49946600-49946800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:49946800-49947000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:49947000-49947200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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