Variant report

Variant	nsv960059
Chromosome Location	chr17:15609621-15611056
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr17:15610713-15610738	A549	lung:	n/a	n/a
2	POLR2A	chr17:15609682-15609882	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15610476-15610526	HEEpiC	esophagus:	n/a
2	chr17:15610476-15610526	HCPEpiC	choroid plexus:	n/a
3	chr17:15610476-15610526	GM06990	blood:	n/a
4	chr17:15610476-15610526	PANC-1	pancreas:	n/a
5	chr17:15610476-15610526	AoSMC	blood vessel:	n/a
6	chr17:15610476-15610526	HRPEpiC	eye:	n/a
7	chr17:15610476-15610526	HNPCEpiC	eye:	n/a
8	chr17:15610476-15610526	ECC-1	luminal epithelium:	n/a
9	chr17:15610476-15610526	HMEC	breast:	n/a
10	chr17:15610476-15610526	HEK293	kidney:	embryo
11	chr17:15610476-15610526	K562	blood:	n/a
12	chr17:15610476-15610526	HL-60	blood:	n/a
13	chr17:15610476-15610526	AG09319	gingival:	n/a
14	chr17:15610476-15610526	HCM	heart:	n/a
15	chr17:15610476-15610526	GM12878	blood:	n/a
16	chr17:15610476-15610526	MCF10A-Er-Src	breast:	n/a
17	chr17:15610476-15610526	NT2-D1	testis:	n/a
18	chr17:15610476-15610526	Hela-S3	cervix:	n/a
19	chr17:15610476-15610526	HCT-116	colon:	n/a
20	chr17:15610476-15610526	HepG2	liver:	n/a
21	chr17:15610476-15610526	Jurkat	blood:	n/a
22	chr17:15610476-15610526	HUVEC	blood vessel:	n/a
23	chr17:15610476-15610526	T-47D	breast:	n/a
24	chr17:15610476-15610526	ProgFib	skin:	n/a
25	chr17:15610476-15610526	BJ	skin:	n/a
26	chr17:15610476-15610526	ovcar-3	ovarian:	n/a
27	chr17:15610476-15610526	HIPEpiC	eye:	n/a
28	chr17:15610476-15610526	AG04449	skin:	fetal
29	chr17:15610476-15610526	AG04450	lung:	fetal
30	chr17:15610476-15610526	RPTEC	kidney:	n/a
31	chr17:15610476-15610526	IMR90	lung:	fetal
32	chr17:15610476-15610526	NB4	blood:	n/a
33	chr17:15610476-15610526	NH-A	brain:	n/a
34	chr17:15610476-15610526	HAEpiC	amniotic membrane:	n/a
35	chr17:15610476-15610526	NHDF-neo	bronchial:	n/a
36	chr17:15610476-15610526	AG10803	skin:	n/a
37	chr17:15610476-15610526	HRCEpiC	kidney:	n/a
38	chr17:15610476-15610526	NHBE	bronchial:	n/a
39	chr17:15610476-15610526	SKMC	muscle:	n/a
40	chr17:15610476-15610526	SK-N-MC	brain:	n/a
41	chr17:15610476-15610526	HRE	kidney:	n/a
42	chr17:15610476-15610526	PrEC	prostate:	n/a
43	chr17:15610476-15610526	BE2_C	brain:	n/a
44	chr17:15610476-15610526	Hepatocyte	liver:	n/a
45	chr17:15610476-15610526	A549	lung:	n/a
46	chr17:15610476-15610526	GM12891	blood:	n/a
47	chr17:15610476-15610526	GM12892	blood:	n/a
48	chr17:15610476-15610526	PFSK-1	brain:	n/a
49	chr17:15610476-15610526	SK-N-SH	brain:	n/a
50	chr17:15610476-15610526	LNCaP	prostate:	n/a

No data

Variant related genes	Relation type
UBE2SP1	TF binding region
UBE2SP1	CpG island

Extended variants
information (count: 52 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554398671	chr17:15609679-15609680	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138466250	chr17:15609684-15609685	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs545764883	chr17:15609691-15609692	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs559208977	chr17:15609713-15609714	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs199895526	chr17:15609732-15609733	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs201213141	chr17:15609754-15609755	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs367996379	chr17:15609757-15609758	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs80140467	chr17:15609768-15609769	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372037998	chr17:15609770-15609771	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371458811	chr17:15609792-15609793	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs149952794	chr17:15609802-15609803	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs374168281	chr17:15609824-15609825	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs200603999	chr17:15609851-15609852	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs541431750	chr17:15609855-15609856	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs561098137	chr17:15609874-15609875	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs530162187	chr17:15609924-15609925	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543495526	chr17:15609947-15609948	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562382703	chr17:15609992-15609993	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111227572	chr17:15610041-15610042	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551113009	chr17:15610067-15610068	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542911256	chr17:15610135-15610136	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9915827	chr17:15610167-15610168	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs527555793	chr17:15610211-15610212	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190047253	chr17:15610212-15610213	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528575797	chr17:15610271-15610272	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200064099	chr17:15610319-15610320	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556292077	chr17:15610335-15610336	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569722938	chr17:15610341-15610342	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539245992	chr17:15610402-15610403	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534760735	chr17:15610409-15610410	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558851054	chr17:15610425-15610426	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572721057	chr17:15610442-15610443	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541341864	chr17:15610481-15610482	ZNF genes & repeats Strong transcription Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs554982592	chr17:15610482-15610483	ZNF genes & repeats Strong transcription Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs574482467	chr17:15610525-15610526	ZNF genes & repeats Strong transcription Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs370922563	chr17:15610553-15610554	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563443047	chr17:15610611-15610612	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374146237	chr17:15610616-15610617	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547119575	chr17:15610675-15610676	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375286121	chr17:15610678-15610679	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141656153	chr17:15610686-15610687	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564900245	chr17:15610714-15610715	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs201925431	chr17:15610727-15610728	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs9890181	chr17:15610733-15610734	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs374776604	chr17:15610746-15610747	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7210005	chr17:15610803-15610804	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs150514640	chr17:15610838-15610839	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181106243	chr17:15610861-15610862	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72819896	chr17:15611002-15611003	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs185514999	chr17:15611008-15611009	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15603400-15609800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr17:15603400-15609800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr17:15603400-15610200	Weak transcription	Aorta	Aorta
4	chr17:15603400-15610200	Weak transcription	Left Ventricle	heart
5	chr17:15603400-15610200	Weak transcription	Lung	lung
6	chr17:15603400-15610400	Weak transcription	Gastric	stomach
7	chr17:15603400-15610800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:15603400-15610800	Weak transcription	Adipose Nuclei	Adipose
9	chr17:15603400-15610800	Weak transcription	Psoas Muscle	Psoas
10	chr17:15603400-15610800	Weak transcription	NHLF	lung
11	chr17:15603400-15611000	Weak transcription	Brain Angular Gyrus	brain
12	chr17:15603400-15611000	Weak transcription	Right Ventricle	heart
13	chr17:15603400-15611600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr17:15603400-15612000	Weak transcription	Colon Smooth Muscle	Colon
15	chr17:15603400-15616400	Weak transcription	Pancreas	Pancrea
16	chr17:15603600-15611000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr17:15603600-15619200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr17:15604000-15609800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr17:15604000-15610800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr17:15604000-15611800	Weak transcription	K562	blood
21	chr17:15604200-15623800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:15604400-15623800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:15604600-15612400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:15604800-15623400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr17:15605000-15612200	ZNF genes & repeats	Dnd41	blood
26	chr17:15605800-15610800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr17:15606200-15612200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr17:15606800-15611600	Weak transcription	Fetal Heart	heart
29	chr17:15607000-15623400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr17:15607600-15609800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:15607600-15610600	ZNF genes & repeats	Brain Germinal Matrix	brain
32	chr17:15607600-15612400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr17:15607600-15612400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:15607600-15612400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr17:15607600-15612400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr17:15607600-15612400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr17:15607600-15612400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr17:15608200-15611000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr17:15608200-15612400	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr17:15608200-15612400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr17:15608200-15612400	Strong transcription	Osteobl	bone
42	chr17:15608200-15612600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr17:15608200-15621200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:15608400-15610200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:15608400-15610200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr17:15608400-15610200	Weak transcription	Esophagus	oesophagus
47	chr17:15608400-15611800	Weak transcription	Spleen	Spleen
48	chr17:15608400-15612400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr17:15608400-15612400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr17:15608400-15613400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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