Variant report

Variant	nsv978369
Chromosome Location	chr17:15578528-15580994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:15580681-15580711	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-385D13.1.1-1	chr17:15580489-15580591	NONHSAT145843
2	lnc-RP11-385D13.1.1-1	chr17:15580889-15581035	NONHSAT145843
3	lnc-RP11-385D13.1.1-1	chr17:15580945-15581035	NONHSAT145845
4	lnc-RP11-385D13.1.1-1	chr17:15580889-15580996	NONHSAT145844

Variant related genes	Relation type
ZNF29P	TF binding region

Extended variants
information (count: 109 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2601978	chr17:15578560-15578561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565880078	chr17:15578570-15578571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534501756	chr17:15578617-15578618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2601979	chr17:15578644-15578645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2654357	chr17:15578652-15578653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554875461	chr17:15578661-15578662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568260990	chr17:15578663-15578664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537090448	chr17:15578709-15578710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556999608	chr17:15578716-15578717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11658939	chr17:15578720-15578721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576880975	chr17:15578740-15578741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201142037	chr17:15578846-15578847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151140111	chr17:15578848-15578849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs110675	chr17:15578852-15578853	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs528036618	chr17:15578893-15578894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28560257	chr17:15578923-15578924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542056941	chr17:15578961-15578962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2530108	chr17:15578965-15578966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145925484	chr17:15578983-15578984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183729026	chr17:15578996-15578997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139169337	chr17:15578997-15578998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564159656	chr17:15579022-15579023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143102903	chr17:15579059-15579060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2654354	chr17:15579069-15579070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546721648	chr17:15579080-15579081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566829301	chr17:15579081-15579082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188349700	chr17:15579084-15579085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143661661	chr17:15579098-15579099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572612985	chr17:15579121-15579122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568200462	chr17:15579132-15579133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537365136	chr17:15579141-15579142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372097759	chr17:15579144-15579145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201994419	chr17:15579169-15579170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376447647	chr17:15579170-15579171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58850080	chr17:15579180-15579181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181834512	chr17:15579214-15579215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186455871	chr17:15579218-15579219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148074666	chr17:15579305-15579306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2654353	chr17:15579322-15579323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553152857	chr17:15579363-15579364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28758741	chr17:15579367-15579368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572843972	chr17:15579392-15579393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2455770	chr17:15579435-15579436	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs142177012	chr17:15579448-15579449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555682326	chr17:15579456-15579457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs163389	chr17:15579474-15579475	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs190090726	chr17:15579476-15579477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139885979	chr17:15579481-15579482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181701837	chr17:15579493-15579494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540229202	chr17:15579517-15579518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

Disease	PMID	Source
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	19435819	CNVD
Non-small cell lung cancer	19010865	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Hepatocellular carcinoma	18803288	CNVD
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
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
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
Multiple myeloma	16616336	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	21811587	CNVD
Autism	17322880	CNVD
Hereditary neuropathy with liability to pressure palsy	19521722	CNVD
Schizophrenia	19571808	CNVD
Schizophrenia	19955444	CNVD
Charcot-marie-tooth disease	18787571	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Peripheral neuropathy	21193943	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	20844748	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15555000-15587000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:15555000-15587000	Weak transcription	Gastric	stomach
3	chr17:15555200-15587000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:15555400-15585800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr17:15555400-15586600	Weak transcription	Brain Angular Gyrus	brain
6	chr17:15555400-15586600	Weak transcription	Thymus	Thymus
7	chr17:15555400-15587000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr17:15555600-15586800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr17:15555600-15586800	Weak transcription	NHDF-Ad	bronchial
10	chr17:15555600-15587000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr17:15555600-15587200	Weak transcription	Aorta	Aorta
12	chr17:15556600-15587000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:15558800-15586600	Weak transcription	Brain Germinal Matrix	brain
14	chr17:15558800-15587000	Weak transcription	Ovary	ovary
15	chr17:15558800-15587000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr17:15558800-15587000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:15559000-15585800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr17:15562600-15586400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:15563400-15586800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr17:15563400-15587000	Weak transcription	Right Ventricle	heart
21	chr17:15563800-15580000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr17:15563800-15586200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr17:15563800-15587000	Weak transcription	Pancreas	Pancrea
24	chr17:15564000-15587000	Weak transcription	Esophagus	oesophagus
25	chr17:15565200-15586200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr17:15565400-15580400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:15566400-15586600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr17:15566600-15587000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr17:15566800-15580200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:15567200-15586000	Weak transcription	GM12878-XiMat	blood
31	chr17:15567200-15586600	Weak transcription	NHEK	skin
32	chr17:15567400-15583800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr17:15567400-15586800	Weak transcription	NHLF	lung
34	chr17:15567600-15579200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr17:15567800-15586600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr17:15567800-15586800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr17:15568000-15580200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr17:15568000-15580200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr17:15568000-15580200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:15568000-15580200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:15568000-15580200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr17:15568000-15580400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:15568000-15580400	Weak transcription	Dnd41	blood
44	chr17:15568000-15585800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr17:15568000-15586000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr17:15568000-15586000	Weak transcription	HepG2	liver
47	chr17:15568000-15586600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr17:15568000-15586600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:15568000-15586600	Weak transcription	Osteobl	bone
50	chr17:15568000-15587000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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