Variant report

Variant	nsv960119
Chromosome Location	chr17:45551104-45560111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 298 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:298 , 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	rs72829678	chr17:45551255-45551256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530404068	chr17:45551262-45551263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9908016	chr17:45551361-45551362	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs570214960	chr17:45551387-45551388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138361684	chr17:45551399-45551400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28507314	chr17:45551402-45551403	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs571316725	chr17:45551406-45551407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533581308	chr17:45551410-45551411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554272185	chr17:45551497-45551498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181385031	chr17:45551573-45551574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553712727	chr17:45551583-45551584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567236729	chr17:45551625-45551626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71141912	chr17:45551651-45551652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536115357	chr17:45551652-45551653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555944393	chr17:45551653-45551654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111469223	chr17:45551661-45551662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74735499	chr17:45551662-45551663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs398030954	chr17:45551663-45551664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575755296	chr17:45551693-45551694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147319910	chr17:45551699-45551700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558833845	chr17:45551704-45551705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572483283	chr17:45551727-45551728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541103315	chr17:45551732-45551733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552158088	chr17:45551738-45551739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185868984	chr17:45551768-45551769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529980986	chr17:45551820-45551821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374396207	chr17:45551830-45551831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563959863	chr17:45551831-45551832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113062631	chr17:45551837-45551838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189987221	chr17:45551845-45551846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367753705	chr17:45551851-45551852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78769911	chr17:45551867-45551868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181241457	chr17:45551877-45551878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552628469	chr17:45551884-45551885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564863445	chr17:45551907-45551908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375083135	chr17:45551952-45551953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368841995	chr17:45551953-45551954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397721544	chr17:45551957-45551958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543463889	chr17:45551990-45551991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527344368	chr17:45552032-45552033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186020497	chr17:45552108-45552109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28458768	chr17:45552140-45552141	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs576963039	chr17:45552176-45552177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536150532	chr17:45552182-45552183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549705926	chr17:45552226-45552227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569615048	chr17:45552249-45552250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368105902	chr17:45552258-45552259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144811487	chr17:45552369-45552370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371777400	chr17:45552393-45552394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372022922	chr17:45552473-45552474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45501400-45554200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:45501400-45554400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr17:45501600-45555400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:45501600-45556400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr17:45507200-45555000	Weak transcription	Fetal Thymus	thymus
6	chr17:45507600-45554200	Weak transcription	Left Ventricle	heart
7	chr17:45515400-45551600	Weak transcription	Fetal Intestine Large	intestine
8	chr17:45515600-45554200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:45516000-45556400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr17:45516800-45553200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr17:45518000-45568800	Weak transcription	K562	blood
12	chr17:45518200-45554200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr17:45518600-45569200	Weak transcription	Brain Anterior Caudate	brain
14	chr17:45519000-45551600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr17:45519400-45569400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr17:45519800-45555000	Weak transcription	Thymus	Thymus
17	chr17:45523200-45556400	Weak transcription	GM12878-XiMat	blood
18	chr17:45526200-45556000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr17:45526400-45568800	Weak transcription	Brain Angular Gyrus	brain
20	chr17:45526600-45568800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr17:45527000-45568800	Weak transcription	Colon Smooth Muscle	Colon
22	chr17:45527800-45568800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr17:45529800-45558200	Weak transcription	Brain Hippocampus Middle	brain
24	chr17:45530200-45568800	Weak transcription	A549	lung
25	chr17:45530400-45554400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr17:45531200-45560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr17:45531400-45568800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr17:45531600-45555000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr17:45531600-45569200	Weak transcription	Primary T cells from cord blood	blood
30	chr17:45534800-45569400	Weak transcription	Esophagus	oesophagus
31	chr17:45537800-45569000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr17:45538200-45551600	Weak transcription	Fetal Brain Female	brain
33	chr17:45538200-45569000	Weak transcription	Brain Substantia Nigra	brain
34	chr17:45539800-45569400	Weak transcription	Brain Germinal Matrix	brain
35	chr17:45540400-45569600	Weak transcription	Small Intestine	intestine
36	chr17:45540600-45568800	Weak transcription	Right Ventricle	heart
37	chr17:45541200-45559000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr17:45541400-45554400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr17:45541800-45568800	Weak transcription	NHEK	skin
40	chr17:45542800-45554000	Weak transcription	Fetal Lung	lung
41	chr17:45542800-45558000	Weak transcription	Primary B cells from cord blood	blood
42	chr17:45543600-45568800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr17:45543600-45568800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr17:45543800-45568800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr17:45544000-45556200	Weak transcription	NHDF-Ad	bronchial
46	chr17:45544000-45569600	Weak transcription	Spleen	Spleen
47	chr17:45544400-45559600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr17:45544400-45568800	Weak transcription	NH-A	brain
49	chr17:45544400-45569000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr17:45544600-45559400	Strong transcription	Fetal Stomach	stomach

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