Variant report

Variant	nsv583193
Chromosome Location	chr2:141365171-141415043
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	chr2:141387361..141389671-chr2:141389724..141391773,2	MCF-7	breast:
2	chr2:141387361..141389671-chr2:141389724..141391773,2	MCF-7	breast:

Extended variants
information (count: 830 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:830 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10153880	chr2:141365171-141365172	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551623435	chr2:141379663-141379664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571709980	chr2:141379735-141379736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532662	chr2:141379761-141379762	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553732723	chr2:141379834-141379835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574414075	chr2:141379873-141379874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187330271	chr2:141379890-141379891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536566947	chr2:141379937-141379938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556396092	chr2:141379977-141379978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74852519	chr2:141380035-141380036	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs146040608	chr2:141380051-141380052	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113789075	chr2:141380068-141380069	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs569358709	chr2:141380069-141380070	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs114885296	chr2:141380131-141380132	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs560883374	chr2:141380178-141380179	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs544908735	chr2:141380287-141380288	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs570046588	chr2:141380289-141380290	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs543749072	chr2:141380293-141380294	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs563564882	chr2:141380305-141380306	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs539336743	chr2:141381649-141381650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552566404	chr2:141381656-141381657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566267519	chr2:141381691-141381692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs516729	chr2:141381798-141381799	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114987468	chr2:141381807-141381808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568139291	chr2:141381818-141381819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537077643	chr2:141381833-141381834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539688823	chr2:141381847-141381848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181550473	chr2:141381860-141381861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546079362	chr2:141381905-141381906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538835044	chr2:141381920-141381921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185635331	chr2:141381921-141381922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572744638	chr2:141381941-141381942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541624959	chr2:141381957-141381958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs518446	chr2:141381962-141381963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530120960	chr2:141382003-141382004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368085981	chr2:141382012-141382013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563724464	chr2:141382015-141382016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532356207	chr2:141382022-141382023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552845118	chr2:141382036-141382037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568980398	chr2:141382055-141382056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142361274	chr2:141382056-141382057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190113808	chr2:141382060-141382061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146897761	chr2:141382100-141382101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568634220	chr2:141382124-141382125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs502908	chr2:141382143-141382144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs503757	chr2:141382217-141382218	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528202885	chr2:141382250-141382251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138928569	chr2:141382260-141382261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149010892	chr2:141382284-141382285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539055592	chr2:141382299-141382300	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141364800-141365200	Active TSS	Primary T killer memory cells from peripheral blood	blood
2	chr2:141379600-141380400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:141380000-141380400	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr2:141380000-141380400	Enhancers	Fetal Brain Female	brain
5	chr2:141381600-141382600	Enhancers	A549	lung
6	chr2:141381800-141383200	Enhancers	Hela-S3	cervix
7	chr2:141384400-141385200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:141384800-141385200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:141396800-141397600	Enhancers	Fetal Lung	lung
10	chr2:141397200-141397400	Enhancers	GM12878-XiMat	blood
11	chr2:141397600-141398400	Weak transcription	GM12878-XiMat	blood
12	chr2:141397600-141401200	Weak transcription	Fetal Lung	lung
13	chr2:141398400-141398600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:141398400-141399200	Enhancers	GM12878-XiMat	blood
15	chr2:141398400-141401000	Enhancers	A549	lung
16	chr2:141398600-141399200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:141398600-141401400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:141398800-141399200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:141399000-141399200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:141399000-141402000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:141399200-141399400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:141399200-141400800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:141399200-141401200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:141400800-141401200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:141400800-141402400	Enhancers	Hela-S3	cervix
26	chr2:141401000-141401200	Flanking Active TSS	A549	lung
27	chr2:141401000-141401400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:141401000-141401400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:141401000-141401600	Enhancers	HSMM	muscle
30	chr2:141401200-141401400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:141401200-141401400	Enhancers	NH-A	brain
32	chr2:141401200-141401600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:141401200-141401600	Enhancers	Fetal Lung	lung
34	chr2:141401200-141401600	Enhancers	HSMMtube	muscle
35	chr2:141401200-141401600	Active TSS	NHDF-Ad	bronchial
36	chr2:141401200-141401800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:141401200-141401800	Active TSS	A549	lung
38	chr2:141401200-141402000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:141401200-141402200	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr2:141401400-141401600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:141401400-141401600	Flanking Active TSS	NH-A	brain
42	chr2:141401400-141401800	Active TSS	Muscle Satellite Cultured Cells	--
43	chr2:141401400-141401800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:141401400-141401800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:141401400-141401800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr2:141401600-141401800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:141401600-141401800	Active TSS	NH-A	brain
48	chr2:141401600-141402000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:141401600-141402200	Enhancers	Fetal Muscle Leg	muscle
50	chr2:141401800-141402200	Enhancers	Muscle Satellite Cultured Cells	--

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