Variant report

Variant	nsv960061
Chromosome Location	chr17:15648808-15652993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:15652603-15652660	A549	lung:	n/a	chr17:15652623-15652636
2	EBF1	chr17:15651996-15652216	GM12878	blood:	n/a	n/a
3	EBF1	chr17:15651959-15652279	GM12878	blood:	n/a	n/a
4	EP300	chr17:15647365-15648950	ECC-1	luminal epithelium:	n/a	n/a
5	FOXA2	chr17:15651919-15652290	A549	lung:	n/a	n/a
6	FOXM1	chr17:15647797-15648914	ECC-1	luminal epithelium:	n/a	n/a
7	FOXM1	chr17:15648024-15648841	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr17:15647233-15649043	ECC-1	luminal epithelium:	n/a	chr17:15648825-15648832 chr17:15648824-15648833 chr17:15648824-15648833 chr17:15648824-15648834
9	MAX	chr17:15647263-15649074	ECC-1	luminal epithelium:	n/a	chr17:15648825-15648832 chr17:15648824-15648833 chr17:15648824-15648833 chr17:15648824-15648834
10	NFIC	chr17:15647454-15648844	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr17:15652569-15652725	A549	lung:	n/a	n/a
12	POLR2A	chr17:15652593-15652715	A549	lung:	n/a	n/a
13	POLR2A	chr17:15652594-15652680	A549	lung:	n/a	n/a
14	SPI1	chr17:15651247-15651457	GM12878	blood:	n/a	chr17:15651335-15651344
15	SPI1	chr17:15651237-15651432	GM12891	blood:	n/a	chr17:15651335-15651344
16	SPI1	chr17:15651199-15651481	GM12878	blood:	n/a	chr17:15651335-15651344
17	SPI1	chr17:15651185-15651720	GM12878	blood:	n/a	chr17:15651335-15651344
18	TCF12	chr17:15647945-15649014	ECC-1	luminal epithelium:	n/a	chr17:15648420-15648430 chr17:15648424-15648431
19	TCF12	chr17:15647440-15648865	ECC-1	luminal epithelium:	n/a	chr17:15648420-15648430 chr17:15648424-15648431
20	TEAD4	chr17:15647348-15648816	ECC-1	luminal epithelium:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15652854-15652904	AG09319	gingival:	n/a
2	chr17:15652329-15652379	SK-N-SH	brain:	n/a
3	chr17:15652854-15652904	HCPEpiC	choroid plexus:	n/a
4	chr17:15652854-15652904	NHDF-neo	bronchial:	n/a
5	chr17:15652329-15652379	HRCEpiC	kidney:	n/a
6	chr17:15652715-15652765	AG04450	lung:	fetal
7	chr17:15652329-15652379	GM12878	blood:	n/a
8	chr17:15652715-15652765	PrEC	prostate:	n/a
9	chr17:15652854-15652904	HRCEpiC	kidney:	n/a
10	chr17:15652854-15652904	NH-A	brain:	n/a
11	chr17:15652854-15652904	MCF10A-Er-Src	breast:	n/a
12	chr17:15652854-15652904	Hela-S3	cervix:	n/a
13	chr17:15650385-15650435	AG10803	skin:	n/a
14	chr17:15652854-15652904	GM06990	blood:	n/a
15	chr17:15650385-15650435	HCF	heart:	n/a
16	chr17:15652715-15652765	PFSK-1	brain:	n/a
17	chr17:15652329-15652379	MCF10A-Er-Src	breast:	n/a
18	chr17:15650385-15650435	HRPEpiC	eye:	n/a
19	chr17:15650385-15650435	GM19239	blood:	n/a
20	chr17:15650385-15650435	SAEC	small airway:	n/a
21	chr17:15652329-15652379	LNCaP	prostate:	n/a
22	chr17:15650385-15650435	HEK293	kidney:	embryo
23	chr17:15652854-15652904	AG04449	skin:	fetal
24	chr17:15650385-15650435	A549	lung:	n/a
25	chr17:15652854-15652904	GM19239	blood:	n/a
26	chr17:15652854-15652904	HPAEpiC	pulmonary alveolar:	n/a
27	chr17:15652329-15652379	BE2_C	brain:	n/a
28	chr17:15652854-15652904	HCF	heart:	n/a
29	chr17:15652329-15652379	ProgFib	skin:	n/a
30	chr17:15650385-15650435	AG09319	gingival:	n/a
31	chr17:15652329-15652379	HNPCEpiC	eye:	n/a
32	chr17:15652715-15652765	AG04449	skin:	fetal
33	chr17:15650385-15650435	BE2_C	brain:	n/a
34	chr17:15652854-15652904	GM12891	blood:	n/a
35	chr17:15652715-15652765	H1-hESC	embryonic stem cell:	embryo
36	chr17:15650385-15650435	HEEpiC	esophagus:	n/a
37	chr17:15652329-15652379	HUVEC	blood vessel:	n/a
38	chr17:15652329-15652379	HCM	heart:	n/a
39	chr17:15652329-15652379	ECC-1	luminal epithelium:	n/a
40	chr17:15650385-15650435	SK-N-SH	brain:	n/a
41	chr17:15652854-15652904	ovcar-3	ovarian:	n/a
42	chr17:15650385-15650435	PrEC	prostate:	n/a
43	chr17:15652854-15652904	BE2_C	brain:	n/a
44	chr17:15652854-15652904	LNCaP	prostate:	n/a
45	chr17:15652715-15652765	GM12892	blood:	n/a
46	chr17:15650385-15650435	RPTEC	kidney:	n/a
47	chr17:15652854-15652904	PFSK-1	brain:	n/a
48	chr17:15652329-15652379	PFSK-1	brain:	n/a
49	chr17:15652329-15652379	HepG2	liver:	n/a
50	chr17:15652715-15652765	NHBE	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15646677..15648283-chr17:15650856..15653224,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM16-2	chr17:15652075-15652506	ENSG00000233002.2
2	lnc-TRIM16-1	chr17:15649993-15650081	NONHSAT145863
3	lnc-TRIM16-1	chr17:15652017-15652629	NONHSAT145866
4	lnc-TRIM16-6	chr17:15650705-15650937	NONHSAT145865
5	lnc-TRIM16-6	chr17:15650514-15650937	ucscGeneNc_uc010cow_1

No data

Variant related genes	Relation type
ENSG00000233002	TF binding region
ENSG00000267227	TF binding region
ENSG00000233002	CpG island
ENSG00000267227	CpG island
ENSG00000233002	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144755562	chr17:15648821-15648822	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs370620095	chr17:15648851-15648852	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs192691005	chr17:15648902-15648903	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs62072383	chr17:15648914-15648915	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs183601053	chr17:15649051-15649052	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs139290307	chr17:15649104-15649105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188440054	chr17:15649131-15649132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148523817	chr17:15649138-15649139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551745369	chr17:15649173-15649174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373827568	chr17:15649201-15649202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559066151	chr17:15649239-15649240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73272161	chr17:15649260-15649261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565849211	chr17:15649277-15649278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575515618	chr17:15649299-15649300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374012984	chr17:15649300-15649301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151029069	chr17:15649333-15649334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56089270	chr17:15649374-15649375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564303733	chr17:15649479-15649480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112842401	chr17:15649490-15649491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141446814	chr17:15649493-15649494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551324671	chr17:15649543-15649544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571145975	chr17:15649655-15649656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540481540	chr17:15649656-15649657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143938552	chr17:15649674-15649675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116167490	chr17:15649714-15649715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573110541	chr17:15649755-15649756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535957179	chr17:15649848-15649849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367717135	chr17:15649887-15649888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555545996	chr17:15650001-15650002	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs574599321	chr17:15650016-15650017	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs528859243	chr17:15650110-15650111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146872445	chr17:15650134-15650135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74905534	chr17:15650169-15650170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4792662	chr17:15650170-15650171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377260384	chr17:15650201-15650202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368449728	chr17:15650234-15650235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545643750	chr17:15650264-15650265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562495892	chr17:15650276-15650277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571590831	chr17:15650283-15650284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73978530	chr17:15650310-15650311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548286592	chr17:15650350-15650351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561606124	chr17:15650357-15650358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150444713	chr17:15650390-15650391	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs192859726	chr17:15650416-15650417	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs138459060	chr17:15650489-15650490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533670632	chr17:15650513-15650514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537714782	chr17:15650586-15650587	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs148842499	chr17:15650635-15650636	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs557390437	chr17:15650649-15650650	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs143452286	chr17:15650704-15650705	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15647400-15649000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:15647400-15649000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:15647800-15649000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr17:15648200-15649000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr17:15648800-15652800	Weak transcription	Ovary	ovary
6	chr17:15651400-15651800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr17:15651400-15651800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr17:15652600-15653000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
9	chr17:15652800-15653000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:15652800-15653000	Flanking Active TSS	Ovary	ovary
11	chr17:15652800-15653000	Flanking Active TSS	Psoas Muscle	Psoas
12	chr17:15652800-15653200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr17:15652800-15653400	Active TSS	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links