Variant report

Variant	nsv521228
Chromosome Location	chr2:178845469-178856900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178847948..178848513-chr2:178974436..178975057,2	MCF-7	breast:
2	chr2:178848036..178848545-chr2:178934223..178934902,2	MCF-7	breast:
3	chr2:178848009..178848559-chr2:179283599..179284557,2	MCF-7	breast:
4	chr2:178852131..178854988-chr2:178855154..178857922,2	K562	blood:
5	chr2:178848052..178848705-chr2:179144772..179145465,2	K562	blood:
6	chr2:178852131..178854988-chr2:178855154..178857922,2	K562	blood:
7	chr2:178847683..178848498-chr2:178934196..178934757,2	MCF-7	breast:

Extended variants
information (count: 260 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191433584	chr2:178848652-178848653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13406220	chr2:178848700-178848701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs529597662	chr2:178848704-178848705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527378167	chr2:178848759-178848760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531857458	chr2:178848789-178848790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551183935	chr2:178848793-178848794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369197565	chr2:178848795-178848796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138349784	chr2:178848806-178848807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35894325	chr2:178848807-178848808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115574812	chr2:178848809-178848810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10186953	chr2:178848824-178848825	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569911019	chr2:178848829-178848830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377623052	chr2:178848874-178848875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533335298	chr2:178848875-178848876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546818903	chr2:178848904-178848905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549348086	chr2:178848908-178848909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77506753	chr2:178848915-178848916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535071122	chr2:178849002-178849003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535764361	chr2:178849017-178849018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13034432	chr2:178849026-178849027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs77115947	chr2:178849100-178849101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533482351	chr2:178849144-178849145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537768073	chr2:178849242-178849243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12693151	chr2:178849243-178849244	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554783372	chr2:178849254-178849255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574261869	chr2:178849259-178849260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541503584	chr2:178849359-178849360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555340556	chr2:178849428-178849429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142839186	chr2:178849448-178849449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146080899	chr2:178849496-178849497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13407054	chr2:178849529-178849530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563955566	chr2:178849547-178849548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139703252	chr2:178849562-178849563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184886016	chr2:178849568-178849569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532665760	chr2:178849588-178849589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371048969	chr2:178849614-178849615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370451587	chr2:178849621-178849622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2196339	chr2:178849631-178849632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34473720	chr2:178849792-178849793	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs529183950	chr2:178849835-178849836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374237924	chr2:178849874-178849875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566036392	chr2:178849912-178849913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6758644	chr2:178849982-178849983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557953570	chr2:178850008-178850009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551867937	chr2:178850047-178850048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115829785	chr2:178850138-178850139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533944634	chr2:178850158-178850159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537283838	chr2:178850186-178850187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372045661	chr2:178850187-178850188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199562964	chr2:178850226-178850227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178848600-178849000	Enhancers	A549	lung
2	chr2:178849000-178850600	Weak transcription	A549	lung
3	chr2:178849200-178850000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:178849400-178849800	Enhancers	HSMMtube	muscle
5	chr2:178849400-178850000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:178849400-178850000	Enhancers	Fetal Intestine Large	intestine
7	chr2:178850000-178853200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:178850000-178854000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:178850000-178854200	Weak transcription	Fetal Intestine Large	intestine
10	chr2:178850600-178850800	Enhancers	A549	lung
11	chr2:178853000-178854600	Enhancers	A549	lung
12	chr2:178853200-178854200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:178853400-178854400	Enhancers	Osteobl	bone
14	chr2:178853400-178854600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:178853400-178854600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:178853400-178854600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:178853400-178855000	Enhancers	NH-A	brain
18	chr2:178853600-178854800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:178853800-178854200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:178854000-178854800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:178854200-178854400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:178854200-178854400	Enhancers	Fetal Intestine Large	intestine
23	chr2:178854200-178854600	Enhancers	Fetal Intestine Small	intestine
24	chr2:178854200-178854800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:178854400-178855000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:178854600-178861400	Weak transcription	A549	lung
27	chr2:178854800-178861400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:178854800-178862400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:178855000-178861200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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