Variant report

Variant	nsv1009296
Chromosome Location	chr1:215498152-215520123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:215500545..215503507-chr1:215504494..215507015,2	K562	blood:
2	chr1:215507541..215509380-chr1:215510952..215512628,2	K562	blood:
3	chr1:215507541..215509380-chr1:215510952..215512628,2	K562	blood:
4	chr1:215485891..215487601-chr1:215497785..215499384,2	MCF-7	breast:
5	chr1:215500545..215503507-chr1:215504494..215507015,2	K562	blood:

Extended variants
information (count: 457 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554038168	chr1:215498164-215498165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs538545913	chr1:215498171-215498172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs367736323	chr1:215498188-215498189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs547560079	chr1:215498621-215498622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12076291	chr1:215498630-215498631	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532071422	chr1:215498635-215498636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548529373	chr1:215498668-215498669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541469689	chr1:215498679-215498680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11120553	chr1:215498798-215498799	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375872754	chr1:215498813-215498814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548241801	chr1:215498819-215498820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568339909	chr1:215498830-215498831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534102135	chr1:215498834-215498835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370088720	chr1:215498854-215498855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553650642	chr1:215498929-215498930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138479498	chr1:215498933-215498934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534239040	chr1:215498996-215498997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11120554	chr1:215499002-215499003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs149625546	chr1:215499084-215499085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552308146	chr1:215499091-215499092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541803903	chr1:215499125-215499126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561771937	chr1:215499135-215499136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572371818	chr1:215499180-215499181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77847586	chr1:215499182-215499183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190175268	chr1:215499199-215499200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144330418	chr1:215499245-215499246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562588576	chr1:215499258-215499259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369309882	chr1:215499275-215499276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531462145	chr1:215499298-215499299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182115282	chr1:215499327-215499328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568078471	chr1:215499330-215499331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148751377	chr1:215499381-215499382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142316528	chr1:215499387-215499388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185012377	chr1:215499444-215499445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34582533	chr1:215499496-215499497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35418621	chr1:215499499-215499500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570702419	chr1:215499548-215499549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115420800	chr1:215499585-215499586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190934431	chr1:215499586-215499587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114451012	chr1:215499619-215499620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556917692	chr1:215499636-215499637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372897688	chr1:215499736-215499737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535571600	chr1:215499766-215499767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533254106	chr1:215499777-215499778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375865717	chr1:215499818-215499819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555303360	chr1:215499821-215499822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12035620	chr1:215499834-215499835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572113815	chr1:215499835-215499836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377540765	chr1:215499848-215499849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2202679	chr1:215499850-215499851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215497000-215498200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:215498600-215499400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:215499400-215504000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:215504000-215504400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:215504400-215506200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:215506200-215507800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:215517200-215519200	Enhancers	Adipose Nuclei	Adipose
8	chr1:215517200-215519400	Enhancers	Fetal Lung	lung
9	chr1:215517400-215519600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:215518000-215518200	Enhancers	Right Atrium	heart
11	chr1:215518000-215518400	Enhancers	Fetal Stomach	stomach
12	chr1:215518400-215520200	Weak transcription	Right Atrium	heart
13	chr1:215519000-215519400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:215519400-215530600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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