Variant report

Variant	nsv975788
Chromosome Location	chr10:118854474-118856796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574729370	chr10:118854541-118854542	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542100458	chr10:118854548-118854549	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564034847	chr10:118854549-118854550	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548065386	chr10:118854561-118854562	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373460554	chr10:118854678-118854679	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559927845	chr10:118854853-118854854	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528860929	chr10:118854897-118854898	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs372058176	chr10:118854923-118854924	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs548542151	chr10:118854951-118854952	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs112349934	chr10:118854967-118854968	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs575869304	chr10:118854980-118854981	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs180773590	chr10:118855004-118855005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545748824	chr10:118855063-118855064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537509263	chr10:118855142-118855143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563935821	chr10:118855196-118855197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551167946	chr10:118855209-118855210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17095675	chr10:118855230-118855231	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs1947798	chr10:118855241-118855242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs1947797	chr10:118855246-118855247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370397732	chr10:118855263-118855264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143394195	chr10:118855285-118855286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536669333	chr10:118855296-118855297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529129818	chr10:118855351-118855352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17095678	chr10:118855362-118855363	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576619318	chr10:118855404-118855405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149719731	chr10:118855452-118855453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186743928	chr10:118855542-118855543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191134706	chr10:118855612-118855613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569101074	chr10:118855621-118855622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572589767	chr10:118855672-118855673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201724633	chr10:118855690-118855691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145602608	chr10:118855745-118855746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552499990	chr10:118855777-118855778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561649705	chr10:118855781-118855782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570555537	chr10:118855932-118855933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530295527	chr10:118855991-118855992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183102973	chr10:118856062-118856063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534782255	chr10:118856072-118856073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187520881	chr10:118856100-118856101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377563993	chr10:118856113-118856114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531352753	chr10:118856203-118856204	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs551053891	chr10:118856229-118856230	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs571385627	chr10:118856230-118856231	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs527458226	chr10:118856238-118856239	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs71475191	chr10:118856448-118856449	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547244245	chr10:118856457-118856458	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567565008	chr10:118856463-118856464	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536509178	chr10:118856474-118856475	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556600128	chr10:118856482-118856483	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190525966	chr10:118856484-118856485	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	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
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
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118851200-118855200	Enhancers	Brain Germinal Matrix	brain
2	chr10:118852800-118854600	Weak transcription	Brain Angular Gyrus	brain
3	chr10:118853000-118854800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:118853400-118855400	Enhancers	Brain Anterior Caudate	brain
5	chr10:118853600-118855000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr10:118853800-118854600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr10:118853800-118856400	Enhancers	Brain Cingulate Gyrus	brain
8	chr10:118853800-118857200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr10:118854000-118854800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr10:118854000-118855000	Enhancers	Fetal Brain Male	brain
11	chr10:118854000-118857200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr10:118854000-118857400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr10:118854200-118854600	Weak transcription	Brain Substantia Nigra	brain
14	chr10:118854200-118855000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:118854400-118854600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr10:118854400-118854800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr10:118854400-118854800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:118854400-118854800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr10:118854400-118855000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr10:118854400-118855000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr10:118854400-118855000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr10:118854400-118855000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr10:118854400-118855200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:118854400-118855200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr10:118854400-118856600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr10:118854400-118856600	Enhancers	Brain Hippocampus Middle	brain
27	chr10:118854600-118855000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr10:118854600-118856400	Enhancers	Brain Angular Gyrus	brain
29	chr10:118854600-118856400	Enhancers	Brain Substantia Nigra	brain
30	chr10:118854800-118855800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr10:118854800-118856200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:118855000-118856000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:118855000-118856200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr10:118855000-118856200	Weak transcription	Fetal Brain Male	brain
35	chr10:118855000-118856400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr10:118855000-118856800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr10:118855000-118860600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr10:118855200-118855600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:118855200-118855600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr10:118855200-118855600	Weak transcription	Brain Germinal Matrix	brain
41	chr10:118855600-118856000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr10:118855600-118857400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:118855600-118857600	Enhancers	Brain Germinal Matrix	brain
44	chr10:118856000-118856200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr10:118856200-118856400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr10:118856200-118856400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr10:118856200-118856600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr10:118856200-118857000	Enhancers	Fetal Brain Male	brain
49	chr10:118856400-118856600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr10:118856400-118856600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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