Variant report

Variant	nsv975077
Chromosome Location	chr10:93126653-93133345
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	chr10:92765705..92766606-chr10:93129702..93130412,2	K562	blood:
2	chr10:93057890..93058598-chr10:93129454..93130233,4	MCF-7	breast:

Extended variants
information (count: 274 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:274 , 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	rs547936684	chr10:93126674-93126675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144388072	chr10:93126685-93126686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536939082	chr10:93126688-93126689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556870614	chr10:93126712-93126713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148360822	chr10:93126713-93126714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141512867	chr10:93126770-93126771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552708986	chr10:93126786-93126787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150752294	chr10:93126807-93126808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370281208	chr10:93126832-93126833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs80155351	chr10:93126853-93126854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74740771	chr10:93126854-93126855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542534185	chr10:93126870-93126871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544902712	chr10:93126906-93126907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181243615	chr10:93126930-93126931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139223323	chr10:93126969-93126970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546934730	chr10:93126974-93126975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560290983	chr10:93127003-93127004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs61386275	chr10:93127013-93127014	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371480345	chr10:93127080-93127081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144023583	chr10:93127102-93127103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567900680	chr10:93127111-93127112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369551227	chr10:93127117-93127118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536874781	chr10:93127135-93127136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57540022	chr10:93127150-93127151	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs570691727	chr10:93127180-93127181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74150659	chr10:93127235-93127236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552885571	chr10:93127250-93127251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572796776	chr10:93127253-93127254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145942459	chr10:93127256-93127257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186071922	chr10:93127274-93127275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575882623	chr10:93127278-93127279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547085374	chr10:93127290-93127291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139788569	chr10:93127291-93127292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578162950	chr10:93127433-93127434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540620362	chr10:93127483-93127484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571839780	chr10:93127494-93127495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562595466	chr10:93127504-93127505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540642667	chr10:93127546-93127547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149758219	chr10:93127548-93127549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs60667168	chr10:93127583-93127584	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs549046251	chr10:93127586-93127587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562615203	chr10:93127618-93127619	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs564125949	chr10:93127628-93127629	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs11595828	chr10:93127732-93127733	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs531706719	chr10:93127740-93127741	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs370935050	chr10:93127778-93127779	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs532848307	chr10:93127816-93127817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565598757	chr10:93127819-93127820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114478293	chr10:93127820-93127821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12264143	chr10:93127873-93127874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93113800-93136600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:93126200-93127000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr10:93126200-93127200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr10:93126200-93127400	Enhancers	HUVEC	blood vessel
5	chr10:93126400-93126800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:93126400-93127000	Enhancers	Osteobl	bone
7	chr10:93126400-93127200	Enhancers	Fetal Brain Male	brain
8	chr10:93126400-93127600	Enhancers	Fetal Heart	heart
9	chr10:93126400-93128000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:93126400-93128000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr10:93126400-93128000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr10:93126400-93128600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:93126600-93127200	Enhancers	Fetal Brain Female	brain
14	chr10:93126600-93127400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr10:93126600-93127800	Enhancers	HSMM	muscle
16	chr10:93126800-93127600	Enhancers	HSMMtube	muscle
17	chr10:93126800-93130200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:93127200-93127400	Enhancers	NH-A	brain
19	chr10:93127600-93127800	Flanking Active TSS	Fetal Heart	heart
20	chr10:93127800-93128200	Enhancers	Fetal Heart	heart
21	chr10:93128200-93129200	Bivalent Enhancer	Fetal Heart	heart

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