Variant report

Variant	nsv978376
Chromosome Location	chr17:16934418-16938973
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16905205..16905735-chr17:16935481..16936004,2	MCF-7	breast:
2	chr17:16938674..16940195-chr17:16944421..16946987,2	K562	blood:
3	chr17:16931573..16934044-chr17:16934220..16938314,3	MCF-7	breast:
4	chr17:16932063..16934977-chr17:16936868..16939174,3	K562	blood:
5	chr17:16931293..16933179-chr17:16934223..16937186,2	MCF-7	breast:
6	chr17:16913150..16913949-chr17:16935742..16936397,2	MCF-7	breast:
7	chr17:16932063..16934977-chr17:16936868..16939174,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNFRSF13B-3	chr17:16936688-16937346	XLOC_012406

No data

Variant related genes	Relation type
ENSG00000133030	chromatin interactions
CCND1	miRNA target sites

Extended variants
information (count: 143 )
Associated
traits (count: 160 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73979052	chr17:16934449-16934450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11870997	chr17:16934485-16934486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs114182135	chr17:16934508-16934509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs151107250	chr17:16934533-16934534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562571617	chr17:16934582-16934583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558460344	chr17:16934588-16934589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115100326	chr17:16934598-16934599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11657117	chr17:16934643-16934644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551427379	chr17:16934664-16934665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570824424	chr17:16934680-16934681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533321842	chr17:16934699-16934700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76211079	chr17:16934711-16934712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141055734	chr17:16934802-16934803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535978882	chr17:16934835-16934836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150241041	chr17:16934875-16934876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370289931	chr17:16934880-16934881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569388487	chr17:16934903-16934904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374670511	chr17:16934908-16934909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538525541	chr17:16934910-16934911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370117619	chr17:16934913-16934914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577926515	chr17:16934948-16934949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539807135	chr17:16935064-16935065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144969622	chr17:16935069-16935070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573380475	chr17:16935091-16935092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35957680	chr17:16935156-16935157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140898825	chr17:16935177-16935178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562694246	chr17:16935217-16935218	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs531454090	chr17:16935240-16935241	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs183427893	chr17:16935423-16935424	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs534009720	chr17:16935464-16935465	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs554217338	chr17:16935493-16935494	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs565139038	chr17:16935588-16935589	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs527601758	chr17:16935589-16935590	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs546991539	chr17:16935593-16935594	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs577203992	chr17:16935597-16935598	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs546211005	chr17:16935622-16935623	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs529376512	chr17:16935633-16935634	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs549255269	chr17:16935740-16935741	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs73979053	chr17:16935780-16935781	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538013969	chr17:16935837-16935838	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs576766168	chr17:16935875-16935876	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs55844179	chr17:16935909-16935910	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs35952765	chr17:16935996-16935997	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs75703893	chr17:16936038-16936039	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs79196699	chr17:16936039-16936040	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs138531368	chr17:16936073-16936074	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs12600495	chr17:16936139-16936140	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs534250318	chr17:16936154-16936155	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs4641803	chr17:16936194-16936195	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs573342137	chr17:16936222-16936223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:160)

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
Pancreatic cancer	21811587	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
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16930200-16936200	Enhancers	Fetal Muscle Leg	muscle
2	chr17:16930400-16936600	Enhancers	Fetal Muscle Trunk	muscle
3	chr17:16930600-16936000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:16930600-16936200	Enhancers	HMEC	breast
5	chr17:16930600-16937600	Enhancers	HSMMtube	muscle
6	chr17:16930800-16935800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:16930800-16936000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:16931000-16936000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:16931400-16936000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:16931600-16936400	Enhancers	Fetal Lung	lung
11	chr17:16932000-16935000	Weak transcription	Brain Angular Gyrus	brain
12	chr17:16932000-16935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:16932200-16935200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr17:16932200-16935200	Weak transcription	NHLF	lung
15	chr17:16932200-16939800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr17:16932400-16935200	Weak transcription	Spleen	Spleen
17	chr17:16932400-16940600	Enhancers	HSMM	muscle
18	chr17:16932600-16934600	Weak transcription	NHDF-Ad	bronchial
19	chr17:16932600-16935000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:16932600-16936000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr17:16932800-16934600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:16932800-16944200	Weak transcription	Fetal Brain Female	brain
23	chr17:16933000-16935000	Weak transcription	NHEK	skin
24	chr17:16933000-16935200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr17:16933000-16935400	Enhancers	A549	lung
26	chr17:16933000-16935600	Weak transcription	Esophagus	oesophagus
27	chr17:16933200-16935200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr17:16933200-16935200	Weak transcription	Fetal Kidney	kidney
29	chr17:16933200-16935200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr17:16933200-16935400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr17:16933200-16936400	Enhancers	Brain Hippocampus Middle	brain
32	chr17:16933200-16936600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr17:16933200-16936800	Weak transcription	Fetal Thymus	thymus
34	chr17:16933400-16936200	Enhancers	Brain Cingulate Gyrus	brain
35	chr17:16933400-16936200	Enhancers	HUVEC	blood vessel
36	chr17:16933600-16935200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr17:16933600-16935200	Enhancers	HepG2	liver
38	chr17:16933600-16935200	Weak transcription	K562	blood
39	chr17:16933600-16935400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr17:16933600-16935600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr17:16933600-16935800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr17:16933600-16936000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr17:16933600-16936000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr17:16933600-16936200	Enhancers	Hela-S3	cervix
45	chr17:16933600-16936200	Enhancers	NH-A	brain
46	chr17:16933800-16934800	Weak transcription	Brain Substantia Nigra	brain
47	chr17:16933800-16935200	Weak transcription	Brain Anterior Caudate	brain
48	chr17:16933800-16935400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr17:16933800-16936000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr17:16933800-16936200	Enhancers	Cortex derived primary cultured neurospheres	brain

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