Variant report

Variant	nsv960417
Chromosome Location	chr17:15439978-15441505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561505895	chr17:15439988-15439989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544535489	chr17:15440005-15440006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547346021	chr17:15440244-15440245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564519843	chr17:15440250-15440251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533144468	chr17:15440265-15440266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546566249	chr17:15440273-15440274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17702771	chr17:15440278-15440279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575413351	chr17:15440308-15440309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538150844	chr17:15440408-15440409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370828921	chr17:15440491-15440492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567868163	chr17:15440562-15440563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537361390	chr17:15440669-15440670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550567876	chr17:15440751-15440752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183132699	chr17:15440801-15440802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539092168	chr17:15440824-15440825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2654282	chr17:15440937-15440938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373817011	chr17:15440938-15440939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186573591	chr17:15440946-15440947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573018840	chr17:15440960-15440961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191363849	chr17:15440970-15440971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7359511	chr17:15440999-15441000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184571343	chr17:15441096-15441097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6502462	chr17:15441120-15441121	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs8065161	chr17:15441123-15441124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576805828	chr17:15441125-15441126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578184478	chr17:15441164-15441165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs8064896	chr17:15441167-15441168	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560111226	chr17:15441177-15441178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529349466	chr17:15441203-15441204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549026094	chr17:15441218-15441219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561935437	chr17:15441227-15441228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114692276	chr17:15441232-15441233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138204212	chr17:15441242-15441243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570691049	chr17:15441257-15441258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539737943	chr17:15441262-15441263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189357584	chr17:15441302-15441303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201033105	chr17:15441316-15441317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7359507	chr17:15441330-15441331	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535557979	chr17:15441347-15441348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112727303	chr17:15441362-15441363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568909748	chr17:15441469-15441470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202083949	chr17:15441486-15441487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558319241	chr17:15441491-15441492	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15383400-15455000	Weak transcription	Gastric	stomach
2	chr17:15393400-15451200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:15394800-15450800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:15406800-15450600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:15416200-15466000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr17:15417600-15466400	Weak transcription	Ovary	ovary
7	chr17:15418600-15450600	Weak transcription	Brain Angular Gyrus	brain
8	chr17:15418800-15450600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr17:15419600-15442000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr17:15419800-15442400	Weak transcription	Thymus	Thymus
11	chr17:15419800-15448400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:15420000-15441800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr17:15420000-15442000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr17:15420000-15442000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr17:15420000-15442000	Weak transcription	A549	lung
16	chr17:15420000-15448400	Weak transcription	Placenta	Placenta
17	chr17:15420000-15450800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr17:15420200-15442000	Weak transcription	Lung	lung
19	chr17:15420200-15448600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr17:15420400-15442000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr17:15420400-15442000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr17:15420400-15442000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:15420400-15452800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:15420600-15441800	Weak transcription	Fetal Brain Female	brain
25	chr17:15420600-15442000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:15420600-15459600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr17:15420800-15442000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:15420800-15448200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr17:15420800-15448400	Weak transcription	Fetal Muscle Leg	muscle
30	chr17:15420800-15448400	Weak transcription	HSMM	muscle
31	chr17:15420800-15450200	Weak transcription	Brain Germinal Matrix	brain
32	chr17:15421200-15450800	Weak transcription	Fetal Kidney	kidney
33	chr17:15421200-15453000	Weak transcription	Aorta	Aorta
34	chr17:15421800-15465600	Weak transcription	Hela-S3	cervix
35	chr17:15422200-15441800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr17:15422400-15441800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr17:15422400-15441800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr17:15422400-15442000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr17:15422400-15447000	Weak transcription	HepG2	liver
40	chr17:15422400-15448400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr17:15422600-15441600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr17:15422800-15441800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:15422800-15465800	Weak transcription	Fetal Intestine Small	intestine
44	chr17:15423000-15442000	Weak transcription	Fetal Stomach	stomach
45	chr17:15423000-15448400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:15423000-15451000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:15426200-15446600	Weak transcription	HUVEC	blood vessel
48	chr17:15429200-15441800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:15429200-15442400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr17:15429200-15443000	Weak transcription	Primary hematopoietic stem cells	blood

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