Variant report

Variant	nsv457683
Chromosome Location	chr17:15034841-15059276
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:15030801..15032445-chr17:15040357..15042858,2	K562	blood:
2	chr17:13240835..13241431-chr17:15059129..15059782,2	MCF-7	breast:
3	chr17:15058947..15059640-chr17:15074737..15075359,2	MCF-7	breast:
4	chr17:14840080..14840715-chr17:15059174..15059887,2	K562	blood:
5	chr17:14829340..14831544-chr17:15056657..15059444,2	MCF-7	breast:
6	chr17:15034854..15037130-chr17:15046281..15047944,2	K562	blood:
7	chr17:15050928..15053562-chr17:15069827..15072655,2	K562	blood:
8	chr17:15034854..15037130-chr17:15046281..15047944,2	K562	blood:

No data

Extended variants
information (count: 346 )
Associated
traits (count: 132 )

Variant overlapped rSNPs/rCNVs (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs917538	chr17:15034841-15034842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs917539	chr17:15034864-15034865	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192147957	chr17:15034883-15034884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575160956	chr17:15034890-15034891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114599997	chr17:15034917-15034918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557772858	chr17:15034927-15034928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62072212	chr17:15034948-15034949	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539865302	chr17:15034955-15034956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560120333	chr17:15034957-15034958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528938078	chr17:15034973-15034974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140201884	chr17:15034978-15034979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562737460	chr17:15034987-15034988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531790742	chr17:15034994-15034995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117501215	chr17:15035021-15035022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112329822	chr17:15035050-15035051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149824356	chr17:15035059-15035060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570188588	chr17:15035102-15035103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112497011	chr17:15035130-15035131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547455009	chr17:15035135-15035136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1076385	chr17:15035143-15035144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536735032	chr17:15035145-15035146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550344543	chr17:15035185-15035186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145789285	chr17:15035258-15035259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571540528	chr17:15035282-15035283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs56008586	chr17:15035327-15035328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74405006	chr17:15035426-15035427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148983793	chr17:15035441-15035442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143061667	chr17:15035513-15035514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553477661	chr17:15035540-15035541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73980992	chr17:15035558-15035559	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs34744997	chr17:15035560-15035561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147804221	chr17:15035570-15035571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562253017	chr17:15035573-15035574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141102634	chr17:15035623-15035624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563074661	chr17:15035661-15035662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77915431	chr17:15035664-15035665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73281228	chr17:15035683-15035684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527964174	chr17:15035684-15035685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548109488	chr17:15035744-15035745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536096217	chr17:15035745-15035746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186885688	chr17:15035758-15035759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146940733	chr17:15035813-15035814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75760449	chr17:15035818-15035819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2079749	chr17:15035833-15035834	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs138198558	chr17:15035835-15035836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2323561	chr17:15035838-15035839	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7213398	chr17:15035846-15035847	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74323712	chr17:15035901-15035902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553651002	chr17:15035905-15035906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558696569	chr17:15035934-15035935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:132)

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
Sezary syndrome	18413736	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
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD
Autism	18522746	CNVD
Epilepsy	21635232	CNVD
Autism	22543975	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15033400-15036000	Enhancers	Colon Smooth Muscle	Colon
2	chr17:15034800-15035400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:15035200-15035400	Enhancers	K562	blood
4	chr17:15035400-15036400	Weak transcription	K562	blood
5	chr17:15036400-15039000	Enhancers	K562	blood
6	chr17:15039000-15039600	Weak transcription	K562	blood
7	chr17:15039600-15039800	Enhancers	K562	blood
8	chr17:15048600-15049200	Enhancers	Fetal Stomach	stomach
9	chr17:15050200-15050800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr17:15057600-15059000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr17:15058000-15058800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr17:15058000-15060800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:15058000-15061200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr17:15058200-15058600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr17:15058200-15058800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:15058200-15058800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr17:15058200-15059200	Enhancers	Osteobl	bone
18	chr17:15058200-15059600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr17:15058400-15058800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:15058400-15059200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr17:15058400-15059400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr17:15058600-15059400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr17:15058600-15060000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr17:15058800-15059000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr17:15058800-15059400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr17:15058800-15059400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:15058800-15059400	Enhancers	NH-A	brain
28	chr17:15058800-15059600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:15058800-15059600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:15058800-15059600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr17:15058800-15060000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr17:15058800-15060800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr17:15058800-15060800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:15058800-15061000	Enhancers	NHDF-Ad	bronchial
35	chr17:15059000-15060000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr17:15059200-15059600	Flanking Active TSS	Osteobl	bone
37	chr17:15059200-15060800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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