Variant report

Variant	nsv874119
Chromosome Location	chr2:52646336-52694638
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	chr17:56708428..56710649-chr2:52687376..52688939,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 2243 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2243 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13399394	chr2:52646336-52646337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533063367	chr2:52646354-52646355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74454267	chr2:52646390-52646391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545950598	chr2:52646393-52646394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1272717	chr2:52646427-52646428	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143530454	chr2:52646432-52646433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1262247	chr2:52646472-52646473	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569336873	chr2:52646483-52646484	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79097955	chr2:52646489-52646490	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113377050	chr2:52646618-52646619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187647602	chr2:52646670-52646671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71411588	chr2:52646676-52646677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs71411589	chr2:52646694-52646695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114600528	chr2:52646701-52646702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80168165	chr2:52646702-52646703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561853520	chr2:52646730-52646731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530605662	chr2:52646748-52646749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72800269	chr2:52646769-52646770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191629052	chr2:52646777-52646778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373270075	chr2:52646805-52646806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184260160	chr2:52646824-52646825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546513034	chr2:52646829-52646830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78391130	chr2:52646913-52646914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375148168	chr2:52646921-52646922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529322542	chr2:52646926-52646927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549200401	chr2:52646956-52646957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569379900	chr2:52646965-52646966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537956639	chr2:52646983-52646984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551964050	chr2:52647002-52647003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs186661187	chr2:52647003-52647004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs571883756	chr2:52647012-52647013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs562447175	chr2:52647028-52647029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs531298713	chr2:52647037-52647038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs572732793	chr2:52647038-52647039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs369740970	chr2:52647045-52647046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs535470431	chr2:52647057-52647058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs7591041	chr2:52647062-52647063	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs571540717	chr2:52647080-52647081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs575260819	chr2:52647090-52647091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs199678638	chr2:52647111-52647112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs563912191	chr2:52647112-52647113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs375294979	chr2:52647114-52647115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs7593781	chr2:52647128-52647129	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540121352	chr2:52647140-52647141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs560056598	chr2:52647159-52647160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs529269182	chr2:52647167-52647168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs549311352	chr2:52647172-52647173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs138803297	chr2:52647182-52647183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs531796498	chr2:52647191-52647192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs192666427	chr2:52647202-52647203	ZNF genes & repeats	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
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
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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52644000-52647000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:52646400-52646600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr2:52647000-52647600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
4	chr2:52647600-52650600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:52648000-52648400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:52650200-52651000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:52650200-52651200	Enhancers	Hela-S3	cervix
8	chr2:52650200-52651400	Enhancers	Liver	Liver
9	chr2:52650600-52651200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:52650600-52651200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:52650600-52651400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:52650800-52651200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:52650800-52651400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:52651000-52651400	Enhancers	Fetal Intestine Small	intestine
15	chr2:52651200-52655200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:52651200-52655200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:52651200-52655400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:52651200-52656200	Weak transcription	Hela-S3	cervix
19	chr2:52651400-52653000	Weak transcription	Liver	Liver
20	chr2:52651400-52655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:52653000-52653600	Enhancers	Liver	Liver
22	chr2:52653600-52656800	Weak transcription	Liver	Liver
23	chr2:52655200-52655800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr2:52655200-52655800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:52655200-52655800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:52655400-52655600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:52655400-52655600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:52655400-52655600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:52655400-52656000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:52655400-52656000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:52655400-52657400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr2:52655400-52658200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:52655600-52656200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:52655600-52657200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:52655600-52658400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:52655600-52659000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:52655800-52657600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:52655800-52658200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:52655800-52659200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr2:52656000-52667200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:52656200-52658000	Enhancers	Primary hematopoietic stem cells	blood
42	chr2:52656200-52658000	Enhancers	Hela-S3	cervix
43	chr2:52656800-52657000	Enhancers	Fetal Intestine Large	intestine
44	chr2:52656800-52657600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:52656800-52658400	Enhancers	Liver	Liver
46	chr2:52657000-52657600	Enhancers	Adipose Nuclei	Adipose
47	chr2:52657000-52657800	Weak transcription	Fetal Intestine Large	intestine
48	chr2:52657200-52657600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:52657200-52657600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:52657800-52658400	Enhancers	Fetal Intestine Large	intestine

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