Variant report

Variant	nsv517404
Chromosome Location	chr10:18754495-18760635
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	chr10:18756743..18758287-chr10:18759029..18761253,2	MCF-7	breast:
2	chr10:18756743..18758287-chr10:18759029..18761253,2	MCF-7	breast:

Extended variants
information (count: 291 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:291 , 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	rs11014358	chr10:18754495-18754496	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79707112	chr10:18754525-18754526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115703273	chr10:18754529-18754530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538585858	chr10:18754531-18754532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556174083	chr10:18754558-18754559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574521631	chr10:18754605-18754606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79393451	chr10:18754626-18754627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541827024	chr10:18754630-18754631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374799167	chr10:18754651-18754652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11014359	chr10:18754671-18754672	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547502246	chr10:18754672-18754673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184546944	chr10:18754689-18754690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368115703	chr10:18754715-18754716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545641385	chr10:18754723-18754724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371894731	chr10:18754735-18754736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565810017	chr10:18754736-18754737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34651038	chr10:18754746-18754747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564342955	chr10:18754760-18754761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531495865	chr10:18754762-18754763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549689887	chr10:18754766-18754767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374346032	chr10:18754791-18754792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12246829	chr10:18754794-18754795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562526068	chr10:18754797-18754798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530001837	chr10:18754829-18754830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548584625	chr10:18754848-18754849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566804779	chr10:18754850-18754851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374580108	chr10:18754863-18754864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552492833	chr10:18754864-18754865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527855265	chr10:18754875-18754876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571084923	chr10:18754889-18754890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538524850	chr10:18754902-18754903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139283705	chr10:18754905-18754906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368563126	chr10:18755050-18755051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114190754	chr10:18755054-18755055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535062908	chr10:18755062-18755063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553741528	chr10:18755066-18755067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572040344	chr10:18755070-18755071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12257502	chr10:18755081-18755082	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs557506391	chr10:18755130-18755131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34754325	chr10:18755135-18755136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575864834	chr10:18755146-18755147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539986342	chr10:18755170-18755171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145449982	chr10:18755196-18755197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561619647	chr10:18755226-18755227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529190128	chr10:18755263-18755264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541817766	chr10:18755325-18755326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559177874	chr10:18755335-18755336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571080712	chr10:18755353-18755354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7923242	chr10:18755415-18755416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74420980	chr10:18755423-18755424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18732400-18801600	Weak transcription	Pancreas	Pancrea
2	chr10:18739000-18761000	Weak transcription	Colon Smooth Muscle	Colon
3	chr10:18741600-18763200	Weak transcription	Fetal Stomach	stomach
4	chr10:18744400-18761800	Weak transcription	Ovary	ovary
5	chr10:18745400-18763200	Weak transcription	Right Ventricle	heart
6	chr10:18745800-18761600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr10:18749000-18759000	Enhancers	Fetal Heart	heart
8	chr10:18751000-18760800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr10:18751000-18761400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr10:18752800-18755200	Weak transcription	Left Ventricle	heart
11	chr10:18753000-18755200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:18753000-18775600	Weak transcription	Right Atrium	heart
13	chr10:18753600-18761800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr10:18754400-18754600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr10:18754600-18756000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr10:18755200-18755400	Enhancers	Left Ventricle	heart
17	chr10:18755400-18755800	Weak transcription	Left Ventricle	heart
18	chr10:18755800-18756000	Enhancers	Left Ventricle	heart
19	chr10:18756000-18759600	Weak transcription	Left Ventricle	heart
20	chr10:18756400-18756600	Enhancers	Brain Hippocampus Middle	brain
21	chr10:18758200-18758800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:18759000-18759400	Weak transcription	Fetal Heart	heart
23	chr10:18759400-18761400	Enhancers	Fetal Heart	heart
24	chr10:18759600-18760400	Enhancers	Left Ventricle	heart
25	chr10:18759800-18760000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr10:18760000-18765000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr10:18760400-18761000	Weak transcription	Left Ventricle	heart
28	chr10:18760600-18760800	Weak transcription	Brain Hippocampus Middle	brain
29	chr10:18760600-18761600	Enhancers	Dnd41	blood

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