Variant report

Variant	nsv960062
Chromosome Location	chr17:15660827-15684234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:15672440-15672590	HFF-Myc	foreskin:	n/a	n/a
2	CTCF	chr17:15672262-15672511	MCF-7	breast:	n/a	n/a
3	CTCF	chr17:15672282-15672486	NHEK	skin:	n/a	n/a
4	CTCF	chr17:15672295-15672488	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr17:15672270-15672499	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr17:15672313-15672454	GM19240	blood:	n/a	n/a
7	CTCF	chr17:15672261-15672504	MCF-7	breast:	n/a	n/a
8	CTCF	chr17:15672365-15672431	GM19239	blood:	n/a	n/a
9	CTCF	chr17:15672278-15672492	MCF-7	breast:	n/a	n/a
10	CTCF	chr17:15672266-15672501	MCF-7	breast:	n/a	n/a
11	CTCF	chr17:15672440-15672590	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr17:15672264-15672508	MCF-7	breast:	n/a	n/a
13	CTCF	chr17:15682280-15682430	GM12870	blood:	n/a	n/a
14	CTCF	chr17:15672304-15672497	Pancreas_OC	pancreas:	n/a	n/a
15	CTCF	chr17:15672315-15672472	ProgFib	skin:	n/a	n/a
16	CTCF	chr17:15672291-15672439	LNCaP	prostate:	n/a	n/a
17	CTCF	chr17:15672366-15672430	K562	blood:	n/a	n/a
18	CTCF	chr17:15672330-15672420	GM19238	blood:	n/a	n/a
19	CTCF	chr17:15672290-15672483	A549	lung:	n/a	n/a
20	CTCF	chr17:15672282-15672499	GM12892	blood:	n/a	n/a
21	CTCF	chr17:15671235-15671316	GM13977	blood:	n/a	n/a
22	CTCF	chr17:15672282-15672486	GM12891	blood:	n/a	n/a
23	CTCF	chr17:15677252-15677352	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr17:15668468-15668555	Lung_OC	lung:	n/a	n/a
25	CTCF	chr17:15672060-15672210	HAc	cerebellar:	n/a	n/a
26	CTCF	chr17:15672328-15672471	HepG2	liver:	n/a	n/a
27	CTCF	chr17:15672340-15672469	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr17:15672311-15672497	Fibrobl	skin:	n/a	n/a
29	CTCF	chr17:15672277-15672498	Gliobla	brain:	n/a	n/a
30	CTCF	chr17:15672364-15672436	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr17:15677202-15677291	GM20000	blood:	n/a	n/a
32	CTCF	chr17:15672228-15672496	A549	lung:	n/a	n/a
33	CTCF	chr17:15672364-15672419	Medullo	brain:	n/a	n/a
34	CTCF	chr17:15666698-15666753	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr17:15672250-15672516	GM12878	blood:	n/a	n/a
36	KAP1	chr17:15682334-15682836	HEK293	kidney:	n/a	n/a
37	MAFK	chr17:15676410-15676618	HepG2	liver:	n/a	n/a
38	POLR2A	chr17:15672399-15672805	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr17:15680298-15680312	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr17:15672443-15672736	SK-N-SH	brain:	n/a	n/a
41	REST	chr17:15672151-15672923	SK-N-SH	brain:	n/a	n/a
42	SETDB1	chr17:15682463-15682954	U2OS	brain:	n/a	n/a
43	SIN3AK20	chr17:15672478-15672767	SK-N-SH	brain:	n/a	n/a
44	STAT3	chr17:15680655-15680855	MCF10A-Er-Src	breast:	n/a	chr17:15680786-15680797
45	STAT3	chr17:15680681-15680881	MCF10A-Er-Src	breast:	n/a	chr17:15680786-15680797
46	TAF1	chr17:15668562-15668741	HepG2	liver:	n/a	n/a
47	USF2	chr17:15679068-15679212	H1-hESC	embryonic stem cell:	n/a	n/a
48	ZNF143	chr17:15682511-15682705	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15683060-15683110	BE2_C	brain:	n/a
2	chr17:15683060-15683110	HRCEpiC	kidney:	n/a
3	chr17:15683060-15683110	NHDF-neo	bronchial:	n/a
4	chr17:15683060-15683110	NB4	blood:	n/a
5	chr17:15683060-15683110	AG04450	lung:	fetal
6	chr17:15683060-15683110	HCPEpiC	choroid plexus:	n/a
7	chr17:15683060-15683110	AG04449	skin:	fetal
8	chr17:15683060-15683110	Hela-S3	cervix:	n/a
9	chr17:15683060-15683110	AG09319	gingival:	n/a
10	chr17:15683060-15683110	GM12878	blood:	n/a
11	chr17:15683060-15683110	NT2-D1	testis:	n/a
12	chr17:15683060-15683110	HPAEpiC	pulmonary alveolar:	n/a
13	chr17:15683060-15683110	HIPEpiC	eye:	n/a
14	chr17:15683060-15683110	Hepatocyte	liver:	n/a
15	chr17:15683060-15683110	HepG2	liver:	n/a
16	chr17:15683060-15683110	HCT-116	colon:	n/a
17	chr17:15683060-15683110	MCF10A-Er-Src	breast:	n/a
18	chr17:15683060-15683110	Jurkat	blood:	n/a
19	chr17:15683060-15683110	GM12891	blood:	n/a
20	chr17:15683060-15683110	U87	brain:	n/a
21	chr17:15683060-15683110	SK-N-MC	brain:	n/a
22	chr17:15683060-15683110	BJ	skin:	n/a
23	chr17:15683060-15683110	HRE	kidney:	n/a
24	chr17:15683060-15683110	LNCaP	prostate:	n/a
25	chr17:15683060-15683110	NHBE	bronchial:	n/a
26	chr17:15683060-15683110	SAEC	small airway:	n/a
27	chr17:15683060-15683110	MCF-7	breast:	n/a
28	chr17:15683060-15683110	HNPCEpiC	eye:	n/a
29	chr17:15683060-15683110	HEK293	kidney:	embryo
30	chr17:15683060-15683110	HAEpiC	amniotic membrane:	n/a
31	chr17:15683060-15683110	PFSK-1	brain:	n/a
32	chr17:15683060-15683110	HUVEC	blood vessel:	n/a
33	chr17:15683060-15683110	IMR90	lung:	fetal
34	chr17:15683060-15683110	NH-A	brain:	n/a
35	chr17:15683060-15683110	AG09309	skin:	n/a
36	chr17:15683060-15683110	AG10803	skin:	n/a
37	chr17:15683060-15683110	HCF	heart:	n/a
38	chr17:15683060-15683110	Caco-2	colon:	n/a
39	chr17:15683060-15683110	K562	blood:	n/a
40	chr17:15683060-15683110	ECC-1	luminal epithelium:	n/a
41	chr17:15683060-15683110	CMK	blood:	n/a
42	chr17:15683060-15683110	SKMC	muscle:	n/a
43	chr17:15683060-15683110	PrEC	prostate:	n/a
44	chr17:15683060-15683110	PANC-1	pancreas:	n/a
45	chr17:15683060-15683110	RPTEC	kidney:	n/a
46	chr17:15683060-15683110	SK-N-SH	brain:	n/a
47	chr17:15683060-15683110	ProgFib	skin:	n/a
48	chr17:15683060-15683110	HL-60	blood:	n/a
49	chr17:15683060-15683110	HEEpiC	esophagus:	n/a
50	chr17:15683060-15683110	HMEC	breast:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM16-1	chr17:15666900-15669134	NONHSAT145863
2	lnc-TRIM16-6	chr17:15661567-15661699	ucscGeneNc_uc010cow_1
3	lnc-TRIM16-3	chr17:15666900-15667083	ENSG00000233193
4	lnc-TRIM16-6	chr17:15661567-15661668	NONHSAT145865
5	lnc-TRIM16-3	chr17:15664928-15665158	ENSG00000233193
6	lnc-TRIM16-7	chr17:15664746-15664857	NONHSAT145868
7	lnc-TRIM16-7	chr17:15663778-15664123	NONHSAT145868

No data

Variant related genes	Relation type
ZSWIM5P1	TF binding region
CDRT15P2	TF binding region
ENSG00000233193	TF binding region
RNA5SP436	TF binding region
IL6STP1	TF binding region
ZSWIM5P1	CpG island
CDRT15P2	CpG island
ENSG00000233193	CpG island
RNA5SP436	CpG island
IL6STP1	CpG island

Extended variants
information (count: 424 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556297665	chr17:15661567-15661568	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs576231664	chr17:15661614-15661615	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs538907443	chr17:15661628-15661629	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs4102842	chr17:15661654-15661655	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572479552	chr17:15661662-15661663	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs4054352	chr17:15661665-15661666	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116892503	chr17:15663805-15663806	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs552701627	chr17:15663817-15663818	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs566149509	chr17:15663838-15663839	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs577277621	chr17:15663844-15663845	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs535272847	chr17:15663876-15663877	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs555093789	chr17:15663952-15663953	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs568604485	chr17:15663956-15663957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs537423050	chr17:15664017-15664018	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs557414094	chr17:15664037-15664038	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs28513361	chr17:15664071-15664072	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs62072419	chr17:15664097-15664098	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs558672230	chr17:15664098-15664099	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs556559543	chr17:15664853-15664854	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs568539979	chr17:15665005-15665006	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs537560043	chr17:15665019-15665020	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs557282705	chr17:15665065-15665066	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs550109461	chr17:15666715-15666716	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs113529355	chr17:15666718-15666719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs564402818	chr17:15666724-15666725	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs576831753	chr17:15666945-15666946	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs375350195	chr17:15666947-15666948	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs547897426	chr17:15666951-15666952	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs185993853	chr17:15666958-15666959	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs572874783	chr17:15666985-15666986	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs541888840	chr17:15667073-15667074	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs564794	chr17:15667090-15667091	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs576034064	chr17:15667091-15667092	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs145370450	chr17:15667100-15667101	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs564716978	chr17:15667117-15667118	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs74413638	chr17:15667133-15667134	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs540720820	chr17:15667180-15667181	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs556562219	chr17:15667266-15667267	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs560258401	chr17:15667414-15667415	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs529238196	chr17:15667431-15667432	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs548995535	chr17:15667445-15667446	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs567988487	chr17:15667496-15667497	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs149132116	chr17:15667526-15667527	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs143416380	chr17:15667529-15667530	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs570629241	chr17:15667552-15667553	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs539303565	chr17:15667592-15667593	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs566604933	chr17:15667623-15667624	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs535417758	chr17:15667656-15667657	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs555424575	chr17:15667662-15667663	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs2619234	chr17:15667685-15667686	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

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
Non-syndromic sensorineural hearing loss	19212409	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15671800-15672000	Enhancers	Fetal Muscle Leg	muscle
2	chr17:15672000-15672800	Weak transcription	Fetal Muscle Leg	muscle
3	chr17:15672000-15673200	Enhancers	Fetal Muscle Trunk	muscle
4	chr17:15672600-15674200	Enhancers	Stomach Smooth Muscle	stomach
5	chr17:15672800-15673000	Bivalent Enhancer	Fetal Stomach	stomach
6	chr17:15672800-15674000	Enhancers	Fetal Muscle Leg	muscle
7	chr17:15672800-15674400	Enhancers	Left Ventricle	heart
8	chr17:15672800-15674800	Enhancers	Fetal Heart	heart
9	chr17:15673200-15673600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:15673600-15674000	Enhancers	Fetal Muscle Trunk	muscle
11	chr17:15674000-15674200	Enhancers	Fetal Stomach	stomach
12	chr17:15680600-15682400	Weak transcription	Aorta	Aorta
13	chr17:15682200-15682600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:15682400-15682600	ZNF genes & repeats	Aorta	Aorta
15	chr17:15682600-15686200	Weak transcription	Aorta	Aorta
16	chr17:15683400-15683600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr17:15683600-15685400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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