Variant report

Variant	nsv508599
Chromosome Location	chr10:92427531-92467715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:92458548..92460592-chr10:92463016..92464897,2	K562	blood:
2	chr10:92458548..92460592-chr10:92463016..92464897,2	K562	blood:
3	chr10:92437999..92438515-chr10:92472507..92473297,2	MCF-7	breast:

Extended variants
information (count: 779 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:779 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566035841	chr10:92427555-92427556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534744087	chr10:92427582-92427583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372739511	chr10:92427606-92427607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2710752	chr10:92427649-92427650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543601622	chr10:92427680-92427681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183712693	chr10:92427696-92427697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188182468	chr10:92427697-92427698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192562664	chr10:92427713-92427714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184744538	chr10:92427761-92427762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527261539	chr10:92427846-92427847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540695621	chr10:92427848-92427849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561160763	chr10:92427857-92427858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530056252	chr10:92427879-92427880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542557690	chr10:92427916-92427917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542979290	chr10:92427944-92427945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561161212	chr10:92427951-92427952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2253577	chr10:92427952-92427953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs2253576	chr10:92427963-92427964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs61857664	chr10:92427971-92427972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570226995	chr10:92427972-92427973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552626008	chr10:92427975-92427976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566071249	chr10:92427986-92427987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17098497	chr10:92427993-92427994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112627885	chr10:92428064-92428065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568126588	chr10:92428085-92428086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373362870	chr10:92428089-92428090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117613508	chr10:92428115-92428116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557256688	chr10:92428139-92428140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35152646	chr10:92428141-92428142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs398097137	chr10:92428142-92428143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199790198	chr10:92428143-92428144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371462093	chr10:92428162-92428163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546111959	chr10:92428174-92428175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558596404	chr10:92428192-92428193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141751140	chr10:92428219-92428220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540586071	chr10:92428228-92428229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541009174	chr10:92428233-92428234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560826047	chr10:92428251-92428252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549710966	chr10:92428260-92428261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377351354	chr10:92428305-92428306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375077081	chr10:92428311-92428312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563589677	chr10:92428337-92428338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532312473	chr10:92428339-92428340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552134422	chr10:92428351-92428352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569877725	chr10:92428361-92428362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200656821	chr10:92428372-92428373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386746467	chr10:92428373-92428374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200828636	chr10:92428375-92428376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548667867	chr10:92428422-92428423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1419342	chr10:92428437-92428438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Sezary syndrome	18413736	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:92426800-92434800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:92431200-92438400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:92432800-92433000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:92433000-92434000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:92433400-92433600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:92433400-92433800	Enhancers	Aorta	Aorta
7	chr10:92433600-92434600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr10:92433800-92434400	Weak transcription	Aorta	Aorta
9	chr10:92434000-92434200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:92434000-92435200	Enhancers	Osteobl	bone
11	chr10:92434200-92434600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:92434200-92434600	Enhancers	NHEK	skin
13	chr10:92434200-92436000	Enhancers	NHLF	lung
14	chr10:92434200-92436200	Enhancers	NHDF-Ad	bronchial
15	chr10:92434400-92434800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr10:92434400-92435000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:92434400-92435200	Active TSS	Aorta	Aorta
18	chr10:92434400-92435200	Enhancers	NH-A	brain
19	chr10:92434400-92436200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr10:92434400-92436200	Enhancers	HMEC	breast
21	chr10:92434600-92435200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:92434600-92435400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:92434600-92435600	Flanking Active TSS	NHEK	skin
24	chr10:92434600-92436400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:92434800-92435000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:92434800-92435200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:92434800-92435400	Enhancers	Fetal Brain Female	brain
28	chr10:92434800-92435400	Enhancers	Fetal Lung	lung
29	chr10:92434800-92435400	Enhancers	Right Atrium	heart
30	chr10:92434800-92436200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:92435000-92435200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr10:92435000-92435400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:92435000-92435400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr10:92435000-92435400	Enhancers	Fetal Stomach	stomach
35	chr10:92435200-92435400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:92435200-92435400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr10:92435200-92435400	Flanking Active TSS	NH-A	brain
38	chr10:92435200-92436000	Flanking Active TSS	Osteobl	bone
39	chr10:92435400-92436200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr10:92435400-92436400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:92435400-92436600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:92435400-92436600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr10:92435600-92436000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr10:92435600-92436400	Enhancers	NHEK	skin
45	chr10:92436000-92436400	Enhancers	Osteobl	bone
46	chr10:92437800-92438200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr10:92437800-92438400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr10:92438000-92438400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr10:92438400-92438600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr10:92438600-92444000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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