Variant report

Variant	nsv960075
Chromosome Location	chr17:19501811-19517783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:124)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:124 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr17:19506576-19506746	GM12878	blood:	n/a	n/a
2	BATF	chr17:19506568-19506797	GM12878	blood:	n/a	n/a
3	BCL11A	chr17:19504533-19504714	GM12878	blood:	n/a	n/a
4	BCL11A	chr17:19506584-19506802	GM12878	blood:	n/a	n/a
5	BCL11A	chr17:19506515-19506806	GM12878	blood:	n/a	n/a
6	BCL11A	chr17:19504501-19504714	GM12878	blood:	n/a	n/a
7	BHLHE40	chr17:19505000-19505221	HepG2	liver:	n/a	n/a
8	BHLHE40	chr17:19502537-19502725	HepG2	liver:	n/a	n/a
9	BHLHE40	chr17:19504466-19504716	HepG2	liver:	n/a	n/a
10	BHLHE40	chr17:19506564-19506851	HepG2	liver:	n/a	n/a
11	CEBPB	chr17:19510104-19510313	A549	lung:	n/a	n/a
12	CEBPB	chr17:19510067-19510327	IMR90	lung:	n/a	n/a
13	CEBPD	chr17:19506583-19506765	K562	blood:	n/a	n/a
14	CTCF	chr17:19509700-19509739	Kidney_OC	kidney:	n/a	n/a
15	EBF1	chr17:19504563-19504697	GM12878	blood:	n/a	n/a
16	EBF1	chr17:19506484-19506732	GM12878	blood:	n/a	n/a
17	EGR1	chr17:19508829-19509053	K562	blood:	n/a	n/a
18	EP300	chr17:19506590-19506723	GM12878	blood:	n/a	n/a
19	EP300	chr17:19504538-19504718	GM12878	blood:	n/a	chr17:19504679-19504693 chr17:19504678-19504692
20	EP300	chr17:19506562-19506865	GM12878	blood:	n/a	n/a
21	FOSL2	chr17:19506559-19506777	HepG2	liver:	n/a	n/a
22	FOSL2	chr17:19506540-19506776	HepG2	liver:	n/a	n/a
23	FOSL2	chr17:19504456-19504740	HepG2	liver:	n/a	chr17:19504555-19504566
24	FOXA1	chr17:19506488-19506766	HepG2	liver:	n/a	n/a
25	GABPA	chr17:19504585-19504675	Hela-S3	cervix:	n/a	n/a
26	GABPA	chr17:19506457-19506740	Hela-S3	cervix:	n/a	n/a
27	GABPA	chr17:19506604-19506738	Hela-S3	cervix:	n/a	n/a
28	GABPA	chr17:19504555-19504724	Hela-S3	cervix:	n/a	n/a
29	GATA2	chr17:19506429-19506757	K562	blood:	n/a	n/a
30	GATA2	chr17:19504512-19504716	K562	blood:	n/a	n/a
31	GATA3	chr17:19502492-19502898	T-47D	breast:	n/a	n/a
32	HEY1	chr17:19506440-19506752	HepG2	liver:	n/a	n/a
33	HEY1	chr17:19506568-19506746	K562	blood:	n/a	n/a
34	HEY1	chr17:19506598-19506777	HepG2	liver:	n/a	n/a
35	HEY1	chr17:19504543-19504718	HepG2	liver:	n/a	n/a
36	HEY1	chr17:19504580-19504682	HepG2	liver:	n/a	n/a
37	IRF4	chr17:19506493-19506768	GM12878	blood:	n/a	n/a
38	IRF4	chr17:19506540-19506776	GM12878	blood:	n/a	n/a
39	JUND	chr17:19504562-19504694	HepG2	liver:	n/a	n/a
40	JUND	chr17:19506602-19506712	HepG2	liver:	n/a	n/a
41	JUND	chr17:19506586-19506785	HepG2	liver:	n/a	n/a
42	JUND	chr17:19504575-19504678	HepG2	liver:	n/a	n/a
43	MAFF	chr17:19508592-19508754	K562	blood:	n/a	n/a
44	MAFF	chr17:19504944-19504947	K562	blood:	n/a	n/a
45	MAFK	chr17:19508584-19508798	IMR90	lung:	n/a	chr17:19508726-19508741
46	MAFK	chr17:19508568-19508905	HepG2	liver:	n/a	chr17:19508726-19508741
47	MAFK	chr17:19508581-19508820	HepG2	liver:	n/a	chr17:19508726-19508741
48	PAX5	chr17:19506532-19506931	GM12878	blood:	n/a	n/a
49	PAX5	chr17:19506590-19506724	GM12878	blood:	n/a	n/a
50	PAX5	chr17:19504562-19504695	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC47A1-3	chr17:19505143-19505569	NONHSAT146504
2	lnc-SLC47A1-3	chr17:19504173-19504658	NONHSAT146504
3	lnc-AC115989.1.1-5	chr17:19507110-19508361	NONHSAT146507

No data

Variant related genes	Relation type
ENSG00000262769	TF binding region
ENSG00000231625	TF binding region
ENSG00000224254	TF binding region
TRNAQ41P	TF binding region
MTND1P14	TF binding region
MTND2P12	TF binding region
ENSG00000266179	TF binding region
ENSG00000271900	TF binding region

Extended variants
information (count: 511 )
Associated
traits (count: 156 )

Variant overlapped rSNPs/rCNVs (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187089230	chr17:19501850-19501851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542620195	chr17:19501887-19501888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567172144	chr17:19501934-19501935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201170325	chr17:19501976-19501977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149343223	chr17:19501981-19501982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537468741	chr17:19501994-19501995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561442674	chr17:19502005-19502006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56109259	chr17:19502048-19502049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs115442675	chr17:19502091-19502092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17684040	chr17:19502102-19502103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs114412586	chr17:19502139-19502140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533093652	chr17:19502140-19502141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560153188	chr17:19502150-19502151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551242399	chr17:19502192-19502193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553988555	chr17:19502196-19502197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190548911	chr17:19502226-19502227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182994689	chr17:19502375-19502376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4598966	chr17:19502377-19502378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs540082546	chr17:19502391-19502392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564620030	chr17:19502420-19502421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187288374	chr17:19502423-19502424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147465340	chr17:19502424-19502425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556602659	chr17:19502506-19502507	Weak transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
24	rs138381680	chr17:19502561-19502562	Weak transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
25	rs143936035	chr17:19502579-19502580	Weak transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
26	rs569106449	chr17:19502616-19502617	Weak transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
27	rs191864126	chr17:19502643-19502644	Weak transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
28	rs557931336	chr17:19502709-19502710	Weak transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
29	rs145739851	chr17:19502711-19502712	Weak transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
30	rs576353146	chr17:19502719-19502720	Weak transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
31	rs147404661	chr17:19502789-19502790	Weak transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
32	rs377447941	chr17:19502835-19502836	Weak transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
33	rs574115761	chr17:19502838-19502839	Weak transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
34	rs542931289	chr17:19502878-19502879	Weak transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
35	rs2012843	chr17:19502883-19502884	Weak transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
36	rs576255746	chr17:19502913-19502914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545207086	chr17:19502926-19502927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564803008	chr17:19502935-19502936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527360890	chr17:19502936-19502937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547213373	chr17:19502950-19502951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111739598	chr17:19503048-19503049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2453604	chr17:19503070-19503071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs578200850	chr17:19503078-19503079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569219664	chr17:19503227-19503228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182947304	chr17:19503237-19503238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187898092	chr17:19503291-19503292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571775407	chr17:19503368-19503369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572619481	chr17:19503383-19503384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142623578	chr17:19503438-19503439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150580826	chr17:19503442-19503443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:156)

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
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
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
Autism	22543975	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19499400-19505600	Weak transcription	Pancreas	Pancrea
2	chr17:19499800-19519000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:19500400-19506400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr17:19508000-19508600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr17:19508200-19509000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr17:19508200-19509000	Enhancers	A549	lung
7	chr17:19508400-19508600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr17:19509000-19515600	Weak transcription	A549	lung
9	chr17:19509800-19510000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:19509800-19511600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr17:19510000-19511000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr17:19511000-19513600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr17:19511600-19513400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr17:19513400-19515800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr17:19513600-19515200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr17:19514600-19515200	Enhancers	Fetal Thymus	thymus
17	chr17:19515000-19515800	Enhancers	GM12878-XiMat	blood
18	chr17:19515000-19518200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr17:19515600-19515800	Enhancers	A549	lung
20	chr17:19515800-19516800	Weak transcription	A549	lung
21	chr17:19516400-19517800	Enhancers	Rectal Smooth Muscle	rectum
22	chr17:19516800-19517200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr17:19516800-19517200	Enhancers	A549	lung
24	chr17:19517000-19517400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr17:19517000-19517600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr17:19517000-19517600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr17:19517200-19517800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:19517200-19517800	Enhancers	Ovary	ovary
29	chr17:19517200-19520800	Weak transcription	Liver	Liver
30	chr17:19517400-19517600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr17:19517400-19517600	Enhancers	Stomach Smooth Muscle	stomach
32	chr17:19517400-19517800	Enhancers	Colon Smooth Muscle	Colon

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