Variant report

Variant	nsv962272
Chromosome Location	chr17:17088447-17089152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:62)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:17088672-17088769	Lung_OC	lung:	n/a	n/a
2	CTCF	chr17:17088627-17088673	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr17:17088381-17088491	Kidney_OC	kidney:	n/a	n/a
4	MAFK	chr17:17089093-17089251	HepG2	liver:	n/a	n/a
5	MAFK	chr17:17089064-17089304	HepG2	liver:	n/a	n/a
6	MYC	chr17:17088444-17088570	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr17:17088273-17088498	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr17:17088502-17088662	K562	blood:	n/a	n/a
9	POLR2A	chr17:17088555-17088586	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr17:17088916-17089000	K562	blood:	n/a	n/a
11	POLR2A	chr17:17088493-17088677	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr17:17088414-17088465	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr17:17088457-17088797	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3AK20	chr17:17089098-17089864	MCF-7	breast:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17088577-17088627	NHDF-neo	bronchial:	n/a
2	chr17:17088577-17088627	NHDF-neo	bronchial:	n/a
3	chr17:17088577-17088627	HIPEpiC	eye:	n/a
4	chr17:17088577-17088627	PANC-1	pancreas:	n/a
5	chr17:17088577-17088627	GM12892	blood:	n/a
6	chr17:17088577-17088627	AG09319	gingival:	n/a
7	chr17:17088577-17088627	CMK	blood:	n/a
8	chr17:17088577-17088627	HRE	kidney:	n/a
9	chr17:17088577-17088627	LNCaP	prostate:	n/a
10	chr17:17088577-17088627	SK-N-SH_RA	brain:	n/a
11	chr17:17088577-17088627	HepG2	liver:	n/a
12	chr17:17088577-17088627	ovcar-3	ovarian:	n/a
13	chr17:17088577-17088627	HAEpiC	amniotic membrane:	n/a
14	chr17:17088577-17088627	HEK293	kidney:	embryo
15	chr17:17088577-17088627	NB4	blood:	n/a
16	chr17:17088577-17088627	Jurkat	blood:	n/a
17	chr17:17088577-17088627	AG09309	skin:	n/a
18	chr17:17088577-17088627	HCPEpiC	choroid plexus:	n/a
19	chr17:17088577-17088627	Caco-2	colon:	n/a
20	chr17:17088577-17088627	PFSK-1	brain:	n/a
21	chr17:17088577-17088627	HL-60	blood:	n/a
22	chr17:17088577-17088627	SK-N-MC	brain:	n/a
23	chr17:17088577-17088627	IMR90	lung:	fetal
24	chr17:17088577-17088627	HEEpiC	esophagus:	n/a
25	chr17:17088577-17088627	Hepatocyte	liver:	n/a
26	chr17:17088577-17088627	HUVEC	blood vessel:	n/a
27	chr17:17088577-17088627	SK-N-SH	brain:	n/a
28	chr17:17088577-17088627	GM06990	blood:	n/a
29	chr17:17088577-17088627	HPAEpiC	pulmonary alveolar:	n/a
30	chr17:17088577-17088627	HRCEpiC	kidney:	n/a
31	chr17:17088577-17088627	GM12878	blood:	n/a
32	chr17:17088577-17088627	BJ	skin:	n/a
33	chr17:17088577-17088627	AG04450	lung:	fetal
34	chr17:17088577-17088627	HRPEpiC	eye:	n/a
35	chr17:17088577-17088627	HMEC	breast:	n/a
36	chr17:17088577-17088627	T-47D	breast:	n/a
37	chr17:17088577-17088627	ProgFib	skin:	n/a
38	chr17:17088577-17088627	ECC-1	luminal epithelium:	n/a
39	chr17:17088577-17088627	GM19239	blood:	n/a
40	chr17:17088577-17088627	HCM	heart:	n/a
41	chr17:17088577-17088627	Hela-S3	cervix:	n/a
42	chr17:17088577-17088627	NHBE	bronchial:	n/a
43	chr17:17088577-17088627	HNPCEpiC	eye:	n/a
44	chr17:17088577-17088627	MCF10A-Er-Src	breast:	n/a
45	chr17:17088577-17088627	A549	lung:	n/a
46	chr17:17088577-17088627	AoSMC	blood vessel:	n/a
47	chr17:17088577-17088627	PrEC	prostate:	n/a
48	chr17:17088577-17088627	NT2-D1	testis:	n/a
49	chr17:17088577-17088627	K562	blood:	n/a
50	chr17:17088577-17088627	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17086210..17088657-chr17:17181524..17183953,3	K562	blood:
2	chr17:17088943..17091453-chr17:17205581..17207911,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLD6-1	chr17:17088802-17088868	ENSG00000263624.1
2	lnc-C17orf84-1	chr17:17087243-17091977	predAs_engstrom06_CD171782_1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	MPRIP	hsa-miR-31-5p	chr17:17088850-17088870
2	MPRIP	hsa-miR-1	chr17:17088818-17088839

Variant related genes	Relation type
ENSG00000263624	TF binding region
MPRIP	TF binding region
ENSG00000263624	CpG island
MPRIP	CpG island
ENSG00000205309	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370548819	chr17:17088465-17088466	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs113251789	chr17:17088466-17088467	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs185756670	chr17:17088500-17088501	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs55792503	chr17:17088557-17088558	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576851102	chr17:17088558-17088559	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs189727786	chr17:17088579-17088580	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs564893661	chr17:17088593-17088594	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs180918036	chr17:17088609-17088610	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs547351030	chr17:17088639-17088640	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs56247606	chr17:17088676-17088677	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529792617	chr17:17088683-17088684	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs577280794	chr17:17088748-17088749	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs549748271	chr17:17088792-17088793	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs569470978	chr17:17088832-17088833	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA miRNA target site	1 gene(s)	Overlapped CNVs	n/a
15	rs538549708	chr17:17088879-17088880	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs35340564	chr17:17088887-17088888	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs3833096	chr17:17088888-17088889	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs186419971	chr17:17088895-17088896	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs150556464	chr17:17088901-17088902	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs367835394	chr17:17088908-17088909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs200366362	chr17:17088910-17088911	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs397800306	chr17:17088911-17088912	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs142979046	chr17:17088918-17088919	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs60701543	chr17:17089065-17089066	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs571323185	chr17:17089066-17089067	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:159)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17030400-17089200	Strong transcription	Fetal Intestine Large	intestine
2	chr17:17038400-17093800	Strong transcription	Fetal Brain Female	brain
3	chr17:17045200-17093800	Strong transcription	Fetal Stomach	stomach
4	chr17:17051000-17093200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr17:17055200-17089400	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr17:17055600-17092600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr17:17055800-17092600	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr17:17056000-17093600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:17056200-17092400	Strong transcription	Stomach Smooth Muscle	stomach
10	chr17:17056600-17093600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:17056800-17095000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:17059400-17089000	Strong transcription	A549	lung
13	chr17:17060400-17093400	Strong transcription	Liver	Liver
14	chr17:17060600-17088800	Strong transcription	Fetal Intestine Small	intestine
15	chr17:17060600-17089200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:17060800-17089000	Strong transcription	NHLF	lung
17	chr17:17060800-17089400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:17060800-17093600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:17061400-17089000	Strong transcription	Osteobl	bone
20	chr17:17061400-17090200	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr17:17067800-17092200	Strong transcription	Brain Cingulate Gyrus	brain
22	chr17:17075200-17089000	Strong transcription	Brain Angular Gyrus	brain
23	chr17:17076000-17088600	Strong transcription	NHEK	skin
24	chr17:17076200-17089000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr17:17076200-17092600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:17076200-17094600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr17:17076600-17104600	Weak transcription	K562	blood
28	chr17:17080800-17090800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr17:17082800-17089600	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr17:17082800-17091000	Genic enhancers	Fetal Thymus	thymus
31	chr17:17083400-17090800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr17:17083600-17093200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr17:17083800-17088800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:17084200-17092400	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr17:17084400-17088800	Weak transcription	Stomach Mucosa	stomach
36	chr17:17084400-17093400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr17:17084400-17095200	Weak transcription	Fetal Kidney	kidney
38	chr17:17084800-17089000	Weak transcription	Small Intestine	intestine
39	chr17:17084800-17091400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr17:17084800-17094800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:17084800-17094800	Weak transcription	Fetal Brain Male	brain
42	chr17:17085600-17089200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr17:17085600-17094800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr17:17085800-17088600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:17085800-17088800	Strong transcription	Aorta	Aorta
46	chr17:17085800-17089200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr17:17085800-17090800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr17:17086000-17090200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr17:17086000-17090200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr17:17086000-17090600	Enhancers	Primary T helper cells PMA-I stimulated	--

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