Variant report

Variant	nsv874141
Chromosome Location	chr2:53263644-53352630
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:53343545..53346407-chr2:53346971..53349149,2	MCF-7	breast:
2	chr2:53321528..53324381-chr2:53335170..53336730,2	MCF-7	breast:
3	chr2:53321528..53324381-chr2:53335170..53336730,2	MCF-7	breast:
4	chr2:53343545..53346407-chr2:53346971..53349149,2	MCF-7	breast:
5	chr1:153962995..153964668-chr2:53323824..53325477,2	K562	blood:

Variant related genes	Relation type
ENSG00000177954	chromatin interactions

Extended variants
information (count: 3113 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:3113 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1900249	chr2:53263644-53263645	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72795374	chr2:53263655-53263656	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533962240	chr2:53263657-53263658	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs147265667	chr2:53263696-53263697	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs574180261	chr2:53263706-53263707	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs543148991	chr2:53263783-53263784	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs562851276	chr2:53263848-53263849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563191068	chr2:53263852-53263853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530062772	chr2:53263853-53263854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10496012	chr2:53263871-53263872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs565221714	chr2:53263875-53263876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528005881	chr2:53263964-53263965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547580008	chr2:53263972-53263973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561184435	chr2:53263981-53263982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189238248	chr2:53263982-53263983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78829383	chr2:53264043-53264044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549014156	chr2:53264186-53264187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148303912	chr2:53264195-53264196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568878034	chr2:53264212-53264213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537817170	chr2:53264216-53264217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527280408	chr2:53264224-53264225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374247722	chr2:53264225-53264226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551126862	chr2:53264260-53264261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182229161	chr2:53264292-53264293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186268979	chr2:53264298-53264299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554001598	chr2:53264302-53264303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573841160	chr2:53264308-53264309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141624042	chr2:53264315-53264316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556592941	chr2:53264316-53264317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113138291	chr2:53264327-53264328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374077532	chr2:53264332-53264333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573610997	chr2:53264352-53264353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566022262	chr2:53264375-53264376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548334392	chr2:53264390-53264391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528511816	chr2:53264402-53264403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558574380	chr2:53264403-53264404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572395884	chr2:53264418-53264419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111346088	chr2:53264431-53264432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369586882	chr2:53264461-53264462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570132187	chr2:53264463-53264464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561246277	chr2:53264465-53264466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568748353	chr2:53264480-53264481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373741963	chr2:53264508-53264509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138105262	chr2:53264518-53264519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188935808	chr2:53264537-53264538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7583627	chr2:53264546-53264547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs181684612	chr2:53264548-53264549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527293724	chr2:53264571-53264572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547666596	chr2:53264580-53264581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4672196	chr2:53264605-53264606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

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
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53255800-53271400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:53260000-53263800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:53262000-53263800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:53262600-53263800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
5	chr2:53262800-53263800	Enhancers	Adipose Nuclei	Adipose
6	chr2:53263200-53263800	Enhancers	A549	lung
7	chr2:53263400-53263800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr2:53263400-53263800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr2:53263400-53263800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:53263400-53264000	Enhancers	Hela-S3	cervix
11	chr2:53263600-53264000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:53263600-53264000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:53263800-53264000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:53268000-53268400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:53285400-53286200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:53285600-53286000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:53285600-53286000	Enhancers	HMEC	breast
18	chr2:53285600-53286200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:53285800-53286200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:53286000-53294000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:53293800-53294800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:53294000-53294400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:53294000-53294600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:53294200-53294600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:53294200-53294800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:53294200-53294800	Enhancers	Fetal Heart	heart
27	chr2:53294200-53295000	Enhancers	Fetal Lung	lung
28	chr2:53294400-53298400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:53294600-53294800	Enhancers	Fetal Brain Male	brain
30	chr2:53298400-53298800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:53298400-53298800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:53298400-53298800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:53298400-53299000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:53300000-53300400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:53302800-53303800	Enhancers	Fetal Brain Female	brain
36	chr2:53303000-53304000	Enhancers	Brain Germinal Matrix	brain
37	chr2:53303200-53304000	Enhancers	Pancreas	Pancrea
38	chr2:53304000-53304400	Weak transcription	Pancreas	Pancrea
39	chr2:53304400-53305000	Enhancers	Pancreas	Pancrea
40	chr2:53310000-53314000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:53313600-53315800	Enhancers	NHLF	lung
42	chr2:53313800-53315000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:53313800-53315200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:53313800-53315400	Enhancers	NHDF-Ad	bronchial
45	chr2:53314000-53315000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:53314000-53315000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:53314000-53315000	Enhancers	Hela-S3	cervix
48	chr2:53314000-53315200	Enhancers	NHEK	skin
49	chr2:53314200-53315000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:53314200-53315000	Enhancers	HSMM	muscle

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