Variant report

Variant	nsv960466
Chromosome Location	chr17:33980992-33984455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:33979744..33982456-chr17:34047752..34049519,2	MCF-7	breast:
2	chr17:33905920..33908004-chr17:33983373..33986029,2	K562	blood:
3	chr17:33983734..33986316-chr17:33989819..33992432,2	K562	blood:
4	chr17:33920166..33922010-chr17:33979222..33981108,2	K562	blood:

Extended variants
information (count: 140 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542589363	chr17:33980995-33980996	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527370701	chr17:33981000-33981001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555518306	chr17:33981015-33981016	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532674723	chr17:33981089-33981090	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565812731	chr17:33981145-33981146	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12450039	chr17:33981240-33981241	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78407760	chr17:33981248-33981249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540458601	chr17:33981302-33981303	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9898972	chr17:33981303-33981304	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs577521953	chr17:33981329-33981330	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369743284	chr17:33981353-33981354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12150072	chr17:33981378-33981379	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149703408	chr17:33981383-33981384	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183028596	chr17:33981426-33981427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186677110	chr17:33981435-33981436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570083854	chr17:33981587-33981588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191118807	chr17:33981633-33981634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146729700	chr17:33981649-33981650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11651380	chr17:33981696-33981697	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7214250	chr17:33981704-33981705	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs542872051	chr17:33981716-33981717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78609064	chr17:33981722-33981723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561922358	chr17:33981756-33981757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541305632	chr17:33981768-33981769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145510521	chr17:33981896-33981897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554224084	chr17:33981899-33981900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12150480	chr17:33981912-33981913	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs373971945	chr17:33981957-33981958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527827293	chr17:33981962-33981963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111623675	chr17:33981963-33981964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7214742	chr17:33981969-33981970	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs531972297	chr17:33981976-33981977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370033735	chr17:33981995-33981996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117955766	chr17:33982007-33982008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143277321	chr17:33982008-33982009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370081228	chr17:33982022-33982023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527995295	chr17:33982044-33982045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547647538	chr17:33982055-33982056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35491038	chr17:33982106-33982107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182912338	chr17:33982118-33982119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372696425	chr17:33982133-33982134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187512696	chr17:33982162-33982163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566983778	chr17:33982170-33982171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148336636	chr17:33982185-33982186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569663124	chr17:33982196-33982197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202152144	chr17:33982234-33982235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535488367	chr17:33982277-33982278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555296306	chr17:33982348-33982349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372441475	chr17:33982375-33982376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11652390	chr17:33982481-33982482	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:115)

Disease	PMID	Source
Melanoma	18172304	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	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
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	17603634	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
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Bladder cancer	19088036	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
Meningioma	19431122	CNVD
Neurocytoma	17123091	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Cervical cancer	21062161	CNVD
Colorectal cancer	22860045	CNVD
Ductal carcinoma	18381933	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Renal cysts	20603712	CNVD
Epilepsy	21858020	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Autism	20587423	CNVD
Renal cysts	20587423	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Mayer-Rokitansky-Kuster-Hauser syndrome	19889212	CNVD
Endometrial cancer	23636398	CNVD
Urothelial cell carcinoma	18451213	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	17850661	CNVD
Primary lung adenocarcinoma	16799635	CNVD
HIV/AIDS	18848619	CNVD
Rheumatoid arthritis	19220326	CNVD
Rheumatoid arthritis	18848619	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	18848619	CNVD
Type 1 diabetes	19220326	CNVD
HIV/AIDS	17330138	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Acute monocytic leukemia	16498392	CNVD
Breast cancer	20409316	CNVD
Myelodysplastic syndrome	18663149	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Adrenocortical carcinoma	18281524	CNVD
Lung cancer	21569311	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	21811585	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:33933000-33997800	Weak transcription	Esophagus	oesophagus
5	chr17:33948800-34010600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr17:33949000-33986400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr17:33949200-34001200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr17:33954200-33982000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:33954600-34001800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr17:33954600-34006000	Weak transcription	Stomach Mucosa	stomach
11	chr17:33958200-33981000	Strong transcription	A549	lung
12	chr17:33958200-33983000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:33958200-33992400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr17:33958200-33992400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:33960000-34024600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr17:33960200-33987600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:33963400-34001200	Weak transcription	Aorta	Aorta
18	chr17:33966000-34002000	Strong transcription	Primary T cells from cord blood	blood
19	chr17:33968000-33997600	Weak transcription	HSMMtube	muscle
20	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:33968200-33984600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:33968400-33984600	Weak transcription	Fetal Kidney	kidney
23	chr17:33968400-33997800	Weak transcription	Brain Substantia Nigra	brain
24	chr17:33969000-33989800	Weak transcription	Psoas Muscle	Psoas
25	chr17:33969000-34001200	Weak transcription	Right Ventricle	heart
26	chr17:33969200-33985600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr17:33969400-33982400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr17:33969400-34001200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr17:33969600-33985800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr17:33969600-33997600	Weak transcription	Brain Anterior Caudate	brain
31	chr17:33969600-33998600	Weak transcription	Fetal Brain Male	brain
32	chr17:33970000-33995400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr17:33970000-33997800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:33970400-33987600	Weak transcription	Fetal Heart	heart
35	chr17:33970400-34001200	Weak transcription	Small Intestine	intestine
36	chr17:33971200-33992000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:33971200-33997800	Weak transcription	Colon Smooth Muscle	Colon
38	chr17:33971400-33981200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr17:33971400-33984600	Weak transcription	Colonic Mucosa	Colon
40	chr17:33972000-33990600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr17:33972000-33998800	Weak transcription	Ovary	ovary
42	chr17:33974000-33982600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:33974400-33992600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr17:33975000-33982000	Strong transcription	Fetal Thymus	thymus
45	chr17:33975000-34025800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr17:33975400-33992800	Strong transcription	Primary B cells from cord blood	blood
47	chr17:33975600-33991400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr17:33976400-33982200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:33976600-33991600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr17:33976800-33986400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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