Variant report

Variant	nsv948155
Chromosome Location	chr10:99065820-99067716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:99067399..99070806-chr10:99092978..99095924,3	K562	blood:
2	chr10:99066210..99068899-chr10:99092992..99095167,2	K562	blood:
3	chr10:99066273..99068879-chr10:99069326..99071417,2	K562	blood:
4	chr10:99066690..99071389-chr10:99076606..99080814,5	MCF-7	breast:
5	chr10:99065882..99067668-chr10:99093705..99096433,2	MCF-7	breast:
6	chr10:99065771..99067454-chr10:99080586..99083013,2	MCF-7	breast:
7	chr10:99067120..99069373-chr10:99092057..99094640,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165879	chromatin interactions
ENSG00000181274	chromatin interactions
ENSG00000237169	chromatin interactions
ENSG00000225850	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112647048	chr10:99065824-99065825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139007789	chr10:99065834-99065835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73326877	chr10:99065844-99065845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142211025	chr10:99065863-99065864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35363447	chr10:99065882-99065883	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs74652965	chr10:99065886-99065887	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs397846547	chr10:99065889-99065890	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs200293724	chr10:99065890-99065891	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs561248888	chr10:99065915-99065916	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs542767878	chr10:99065924-99065925	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs540641208	chr10:99065950-99065951	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs560906500	chr10:99066022-99066023	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs544265808	chr10:99066074-99066075	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs532849779	chr10:99066079-99066080	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs551334580	chr10:99066130-99066131	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs569414546	chr10:99066159-99066160	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530262489	chr10:99066172-99066173	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs182669307	chr10:99066188-99066189	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs115755026	chr10:99066205-99066206	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs143666921	chr10:99066231-99066232	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs552554326	chr10:99066295-99066296	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs148074425	chr10:99066346-99066347	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs186601620	chr10:99066355-99066356	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs557008792	chr10:99066383-99066384	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs189817469	chr10:99066417-99066418	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs112100694	chr10:99066441-99066442	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs141896385	chr10:99066442-99066443	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs572737131	chr10:99066547-99066548	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs555004968	chr10:99066587-99066588	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs150637936	chr10:99066613-99066614	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs188835929	chr10:99066615-99066616	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs193028947	chr10:99066628-99066629	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs532582564	chr10:99066645-99066646	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs11189117	chr10:99066678-99066679	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs78264733	chr10:99066692-99066693	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs79677309	chr10:99066700-99066701	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs398054627	chr10:99066703-99066704	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs398014546	chr10:99066704-99066705	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs373372423	chr10:99066745-99066746	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs540250791	chr10:99066746-99066747	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs370333315	chr10:99066763-99066764	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs530282132	chr10:99066812-99066813	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs185156085	chr10:99066818-99066819	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs564304826	chr10:99066828-99066829	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs567309503	chr10:99066841-99066842	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs188817915	chr10:99066858-99066859	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs11189118	chr10:99066862-99066863	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570894519	chr10:99066876-99066877	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs191722626	chr10:99066918-99066919	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs377078760	chr10:99066934-99066935	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autosomal dominant partial epilepsy	18472482	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99058600-99067000	Weak transcription	K562	blood
2	chr10:99062600-99066600	Weak transcription	Liver	Liver
3	chr10:99066600-99068200	Enhancers	Liver	Liver
4	chr10:99067000-99068000	Enhancers	K562	blood
5	chr10:99067200-99067800	Bivalent Enhancer	HepG2	liver
6	chr10:99067200-99068000	Enhancers	Psoas Muscle	Psoas
7	chr10:99067200-99068200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:99067200-99068400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr10:99067200-99068600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr10:99067200-99068800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr10:99067200-99069000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr10:99067600-99068000	Enhancers	Aorta	Aorta

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