Variant report

Variant	nsv960427
Chromosome Location	chr17:17487155-17489010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17486939..17489476-chr17:17493857..17495670,3	MCF-7	breast:
2	chr17:17485257..17488708-chr17:17493396..17495920,3	K562	blood:
3	chr17:17485277..17487329-chr17:17493832..17495803,2	MCF-7	breast:
4	chr17:17484457..17486377-chr17:17487270..17488936,2	MCF-7	breast:
5	chr17:17479189..17482143-chr17:17485990..17487896,2	K562	blood:

Variant related genes	Relation type
ENSG00000264666	chromatin interactions
ENSG00000133027	chromatin interactions
ENSG00000206730	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192451172	chr17:17487190-17487191	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs554249379	chr17:17487217-17487218	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs151084790	chr17:17487238-17487239	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs565615166	chr17:17487266-17487267	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs140639062	chr17:17487348-17487349	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs375397851	chr17:17487362-17487363	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs547980915	chr17:17487378-17487379	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs75826450	chr17:17487389-17487390	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs79331213	chr17:17487390-17487391	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs75386427	chr17:17487391-17487392	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs567919681	chr17:17487407-17487408	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs536713841	chr17:17487414-17487415	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs75795950	chr17:17487418-17487419	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs3760188	chr17:17487440-17487441	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540242231	chr17:17487461-17487462	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs559878417	chr17:17487509-17487510	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs183565990	chr17:17487535-17487536	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs559027954	chr17:17487561-17487562	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs572766505	chr17:17487567-17487568	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs541790958	chr17:17487574-17487575	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs3760187	chr17:17487576-17487577	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553185135	chr17:17487636-17487637	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs546117453	chr17:17487657-17487658	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs111467494	chr17:17487695-17487696	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs111965687	chr17:17487719-17487720	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs376819469	chr17:17487755-17487756	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs369804128	chr17:17487796-17487797	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs146576970	chr17:17487802-17487803	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs558972922	chr17:17487848-17487849	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs531536131	chr17:17487914-17487915	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs548376802	chr17:17487921-17487922	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs73978985	chr17:17487949-17487950	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs548091446	chr17:17487955-17487956	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs567882453	chr17:17488001-17488002	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs114499704	chr17:17488049-17488050	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs550780217	chr17:17488052-17488053	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs570037294	chr17:17488078-17488079	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs539163965	chr17:17488103-17488104	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs367977059	chr17:17488124-17488125	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs572472483	chr17:17488146-17488147	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs556446821	chr17:17488155-17488156	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs535295028	chr17:17488226-17488227	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs370714126	chr17:17488233-17488234	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs574945924	chr17:17488252-17488253	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs78090922	chr17:17488253-17488254	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs563939183	chr17:17488331-17488332	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs576853227	chr17:17488332-17488333	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs545498782	chr17:17488362-17488363	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs558885093	chr17:17488377-17488378	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs542433601	chr17:17488389-17488390	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:159)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric cancer	18160780	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22543975	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17469000-17494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:17469200-17493600	Weak transcription	Thymus	Thymus
3	chr17:17471600-17493600	Weak transcription	Brain Angular Gyrus	brain
4	chr17:17471800-17493600	Weak transcription	Colon Smooth Muscle	Colon
5	chr17:17472400-17493600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr17:17474200-17493600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr17:17474600-17493800	Weak transcription	Primary B cells from cord blood	blood
8	chr17:17474800-17493200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:17478200-17493800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:17479800-17493400	Weak transcription	HMEC	breast
11	chr17:17480200-17490800	Weak transcription	NHEK	skin
12	chr17:17480200-17493000	Weak transcription	Brain Germinal Matrix	brain
13	chr17:17480200-17493600	Weak transcription	Esophagus	oesophagus
14	chr17:17480200-17493600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr17:17480400-17487200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:17480400-17492800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr17:17480400-17493400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr17:17480400-17493400	Weak transcription	Pancreas	Pancrea
19	chr17:17480400-17493600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr17:17480400-17493600	Weak transcription	Fetal Brain Female	brain
21	chr17:17480400-17493600	Weak transcription	Left Ventricle	heart
22	chr17:17480400-17493600	Weak transcription	Spleen	Spleen
23	chr17:17480400-17493600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr17:17480400-17493800	Weak transcription	Primary T cells from cord blood	blood
25	chr17:17480400-17493800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr17:17480400-17493800	Weak transcription	Colonic Mucosa	Colon
27	chr17:17480600-17487400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr17:17480600-17492000	Weak transcription	Dnd41	blood
29	chr17:17480600-17493000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr17:17480600-17493400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr17:17480600-17493400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr17:17480600-17493400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr17:17480600-17493600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr17:17480600-17493600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:17480600-17493600	Weak transcription	NHLF	lung
36	chr17:17480800-17493200	Weak transcription	Lung	lung
37	chr17:17480800-17493800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr17:17481000-17494000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr17:17483600-17494200	Weak transcription	Gastric	stomach
40	chr17:17484400-17491000	Weak transcription	Ovary	ovary
41	chr17:17484600-17488400	Strong transcription	Fetal Stomach	stomach
42	chr17:17484600-17493200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr17:17484600-17493600	Weak transcription	Right Ventricle	heart
44	chr17:17485000-17489600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr17:17485000-17491000	Weak transcription	NHDF-Ad	bronchial
46	chr17:17485000-17493600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr17:17485000-17493600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr17:17485200-17491200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr17:17485200-17493400	Weak transcription	A549	lung
50	chr17:17485200-17493400	Weak transcription	Hela-S3	cervix

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