Variant report

Variant	nsv1066922
Chromosome Location	chr17:19494805-19515049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:122 , 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	chr17:19506515-19506806	GM12878	blood:	n/a	n/a
4	BCL11A	chr17:19504533-19504714	GM12878	blood:	n/a	n/a
5	BCL11A	chr17:19506584-19506802	GM12878	blood:	n/a	n/a
6	BCL11A	chr17:19504501-19504714	GM12878	blood:	n/a	n/a
7	BHLHE40	chr17:19502537-19502725	HepG2	liver:	n/a	n/a
8	BHLHE40	chr17:19505000-19505221	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	chr17:19510067-19510327	IMR90	lung:	n/a	n/a
12	CEBPB	chr17:19510104-19510313	A549	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	chr17:19506484-19506732	GM12878	blood:	n/a	n/a
16	EBF1	chr17:19504563-19504697	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	chr17:19506540-19506776	HepG2	liver:	n/a	n/a
22	FOSL2	chr17:19506559-19506777	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	chr17:19506457-19506740	Hela-S3	cervix:	n/a	n/a
26	GABPA	chr17:19504555-19504724	Hela-S3	cervix:	n/a	n/a
27	GABPA	chr17:19506604-19506738	Hela-S3	cervix:	n/a	n/a
28	GABPA	chr17:19504585-19504675	Hela-S3	cervix:	n/a	n/a
29	GATA2	chr17:19504512-19504716	K562	blood:	n/a	n/a
30	GATA2	chr17:19506429-19506757	K562	blood:	n/a	n/a
31	GATA3	chr17:19502492-19502898	T-47D	breast:	n/a	n/a
32	GTF2F1	chr17:19497442-19497453	H1-hESC	embryonic stem cell:	n/a	n/a
33	HEY1	chr17:19506598-19506777	HepG2	liver:	n/a	n/a
34	HEY1	chr17:19506568-19506746	K562	blood:	n/a	n/a
35	HEY1	chr17:19506440-19506752	HepG2	liver:	n/a	n/a
36	HEY1	chr17:19504580-19504682	HepG2	liver:	n/a	n/a
37	HEY1	chr17:19504543-19504718	HepG2	liver:	n/a	n/a
38	IRF4	chr17:19506540-19506776	GM12878	blood:	n/a	n/a
39	IRF4	chr17:19506493-19506768	GM12878	blood:	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	JUND	chr17:19504562-19504694	HepG2	liver:	n/a	n/a
44	MAFF	chr17:19504944-19504947	K562	blood:	n/a	n/a
45	MAFF	chr17:19508592-19508754	K562	blood:	n/a	n/a
46	MAFK	chr17:19508581-19508820	HepG2	liver:	n/a	chr17:19508726-19508741
47	MAFK	chr17:19508584-19508798	IMR90	lung:	n/a	chr17:19508726-19508741
48	MAFK	chr17:19508568-19508905	HepG2	liver:	n/a	chr17:19508726-19508741
49	MYC	chr17:19500365-19500514	H1-hESC	embryonic stem cell:	n/a	n/a
50	MYC	chr17:19498298-19498383	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC115989.1.1-5	chr17:19507110-19508361	NONHSAT146507
2	lnc-SLC47A1-1	chr17:19497523-19497636	NONHSAT146500
3	lnc-SLC47A1-3	chr17:19505143-19505569	NONHSAT146504
4	lnc-SLC47A1-1	chr17:19499171-19499238	NONHSAT146500
5	lnc-SLC47A1-1	chr17:19499326-19499371	NONHSAT146500
6	lnc-SLC47A2-3	chr17:19501210-19501235	ENSG00000262769.1
7	lnc-SLC47A1-3	chr17:19504173-19504658	NONHSAT146504

No data

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

Extended variants
information (count: 668 )
Associated
traits (count: 156 )

Variant overlapped rSNPs/rCNVs (count:668 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527363118	chr17:19494843-19494844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547495531	chr17:19494916-19494917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567561347	chr17:19494929-19494930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536283767	chr17:19494970-19494971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555741756	chr17:19494987-19494988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35405907	chr17:19494989-19494990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544453504	chr17:19495000-19495001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569211477	chr17:19495038-19495039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191537338	chr17:19495039-19495040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557945826	chr17:19495063-19495064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138601100	chr17:19495128-19495129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540354490	chr17:19495151-19495152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554280691	chr17:19495184-19495185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573946601	chr17:19495210-19495211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543009822	chr17:19495253-19495254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140648932	chr17:19495358-19495359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531651121	chr17:19495378-19495379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545353780	chr17:19495400-19495401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565060319	chr17:19495406-19495407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111978407	chr17:19495413-19495414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527523767	chr17:19495421-19495422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547174300	chr17:19495446-19495447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561043109	chr17:19495476-19495477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2165895	chr17:19495478-19495479	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs374244523	chr17:19495607-19495608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569180000	chr17:19495614-19495615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145827562	chr17:19495615-19495616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551691778	chr17:19495646-19495647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181307336	chr17:19495683-19495684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372937024	chr17:19495690-19495691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553928501	chr17:19495736-19495737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62065939	chr17:19495794-19495795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574086879	chr17:19495804-19495805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7216938	chr17:19495926-19495927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs138469243	chr17:19495938-19495939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576543824	chr17:19495941-19495942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373849679	chr17:19495949-19495950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143102062	chr17:19496008-19496009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs67870359	chr17:19496020-19496021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572101114	chr17:19496064-19496065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59733667	chr17:19496092-19496093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560788276	chr17:19496147-19496148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529818999	chr17:19496201-19496202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549493579	chr17:19496232-19496233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562929220	chr17:19496234-19496235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530964968	chr17:19496289-19496290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144232892	chr17:19496292-19496293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116793928	chr17:19496312-19496313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546311316	chr17:19496339-19496340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185518520	chr17:19496364-19496365	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	chr17:19493200-19499200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr17:19493400-19499200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:19494200-19495000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr17:19494200-19495200	Enhancers	HepG2	liver
5	chr17:19494400-19495000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr17:19494800-19497200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr17:19495200-19495600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:19497200-19498600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr17:19497400-19497800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:19497400-19497800	Enhancers	Spleen	Spleen
11	chr17:19499200-19499400	Enhancers	Pancreas	Pancrea
12	chr17:19499200-19499800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:19499200-19500400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr17:19499400-19505600	Weak transcription	Pancreas	Pancrea
15	chr17:19499800-19519000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:19500200-19500400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:19500400-19506400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr17:19508000-19508600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr17:19508200-19509000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr17:19508200-19509000	Enhancers	A549	lung
21	chr17:19508400-19508600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr17:19509000-19515600	Weak transcription	A549	lung
23	chr17:19509800-19510000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:19509800-19511600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr17:19510000-19511000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr17:19511000-19513600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr17:19511600-19513400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr17:19513400-19515800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr17:19513600-19515200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr17:19514600-19515200	Enhancers	Fetal Thymus	thymus
31	chr17:19515000-19515800	Enhancers	GM12878-XiMat	blood
32	chr17:19515000-19518200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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