Variant report

Variant	nsv516755
Chromosome Location	chr17:15644506-15647723
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:123)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:15645940-15646090	NHEK	skin:	n/a	n/a
2	EP300	chr17:15647365-15648950	ECC-1	luminal epithelium:	n/a	n/a
3	ESR1	chr17:15647592-15647971	ECC-1	luminal epithelium:	n/a	n/a
4	ESR1	chr17:15647573-15647954	ECC-1	luminal epithelium:	n/a	n/a
5	ESR1	chr17:15647567-15648739	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr17:15647263-15649074	ECC-1	luminal epithelium:	n/a	chr17:15648825-15648832 chr17:15648824-15648833 chr17:15648824-15648833 chr17:15648824-15648834
7	MAX	chr17:15647233-15649043	ECC-1	luminal epithelium:	n/a	chr17:15648825-15648832 chr17:15648824-15648833 chr17:15648824-15648833 chr17:15648824-15648834
8	NFIC	chr17:15647454-15648844	ECC-1	luminal epithelium:	n/a	n/a
9	NFIC	chr17:15647517-15648768	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr17:15644841-15644889	GM12878	blood:	n/a	n/a
11	SRF	chr17:15647440-15647965	ECC-1	luminal epithelium:	n/a	n/a
12	TCF12	chr17:15647440-15648865	ECC-1	luminal epithelium:	n/a	chr17:15648420-15648430 chr17:15648424-15648431
13	TEAD4	chr17:15647348-15648816	ECC-1	luminal epithelium:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15646415-15646465	AG09319	gingival:	n/a
2	chr17:15646415-15646465	AG09319	gingival:	n/a
3	chr17:15646415-15646465	AG10803	skin:	n/a
4	chr17:15644575-15644625	HUVEC	blood vessel:	n/a
5	chr17:15646415-15646465	GM12892	blood:	n/a
6	chr17:15644575-15644625	Jurkat	blood:	n/a
7	chr17:15644575-15644625	HEK293	kidney:	embryo
8	chr17:15644575-15644625	HCF	heart:	n/a
9	chr17:15644575-15644625	SK-N-SH_RA	brain:	n/a
10	chr17:15644575-15644625	GM19239	blood:	n/a
11	chr17:15644575-15644625	ProgFib	skin:	n/a
12	chr17:15646415-15646465	Jurkat	blood:	n/a
13	chr17:15644575-15644625	PrEC	prostate:	n/a
14	chr17:15644575-15644625	Hela-S3	cervix:	n/a
15	chr17:15644575-15644625	BE2_C	brain:	n/a
16	chr17:15646415-15646465	Hela-S3	cervix:	n/a
17	chr17:15646415-15646465	ECC-1	luminal epithelium:	n/a
18	chr17:15644575-15644625	SK-N-MC	brain:	n/a
19	chr17:15644575-15644625	HRPEpiC	eye:	n/a
20	chr17:15646415-15646465	NT2-D1	testis:	n/a
21	chr17:15646415-15646465	Hepatocyte	liver:	n/a
22	chr17:15646415-15646465	U87	brain:	n/a
23	chr17:15644575-15644625	HepG2	liver:	n/a
24	chr17:15646415-15646465	SKMC	muscle:	n/a
25	chr17:15644575-15644625	HRE	kidney:	n/a
26	chr17:15644575-15644625	ovcar-3	ovarian:	n/a
27	chr17:15644575-15644625	NB4	blood:	n/a
28	chr17:15644575-15644625	HCPEpiC	choroid plexus:	n/a
29	chr17:15646415-15646465	K562	blood:	n/a
30	chr17:15646415-15646465	A549	lung:	n/a
31	chr17:15646415-15646465	HMEC	breast:	n/a
32	chr17:15646415-15646465	LNCaP	prostate:	n/a
33	chr17:15644575-15644625	HAEpiC	amniotic membrane:	n/a
34	chr17:15644575-15644625	Caco-2	colon:	n/a
35	chr17:15644575-15644625	AG09319	gingival:	n/a
36	chr17:15646415-15646465	HAEpiC	amniotic membrane:	n/a
37	chr17:15644575-15644625	PANC-1	pancreas:	n/a
38	chr17:15644575-15644625	GM06990	blood:	n/a
39	chr17:15646415-15646465	HCT-116	colon:	n/a
40	chr17:15644575-15644625	BJ	skin:	n/a
41	chr17:15646415-15646465	NHBE	bronchial:	n/a
42	chr17:15644575-15644625	IMR90	lung:	fetal
43	chr17:15646415-15646465	GM12878	blood:	n/a
44	chr17:15646415-15646465	NHDF-neo	bronchial:	n/a
45	chr17:15646415-15646465	BE2_C	brain:	n/a
46	chr17:15644575-15644625	K562	blood:	n/a
47	chr17:15644575-15644625	AG04450	lung:	fetal
48	chr17:15646415-15646465	IMR90	lung:	fetal
49	chr17:15644575-15644625	HCT-116	colon:	n/a
50	chr17:15646415-15646465	HEK293	kidney:	embryo

(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:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM16-1	chr17:15643410-15648034	NONHSAT145863
2	lnc-TRIM16-1	chr17:15646917-15647105	ENSG00000233002.2
3	lnc-TRIM16-1	chr17:15646917-15647113	ENSG00000233002.2

No data

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

Extended variants
information (count: 160 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11650318	chr17:15644506-15644507	Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369685148	chr17:15644515-15644516	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
3	rs373600282	chr17:15644516-15644517	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
4	rs377723570	chr17:15644520-15644521	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
5	rs369375781	chr17:15644541-15644542	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
6	rs538344037	chr17:15644548-15644549	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
7	rs140832768	chr17:15644553-15644554	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs199562992	chr17:15644571-15644572	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs370129029	chr17:15644583-15644584	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs374588306	chr17:15644585-15644586	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs57227133	chr17:15644600-15644601	Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs374397294	chr17:15644616-15644617	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs559255459	chr17:15644617-15644618	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs572791405	chr17:15644626-15644627	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs184476888	chr17:15644675-15644676	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs73272160	chr17:15644685-15644686	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs73978526	chr17:15644688-15644689	Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550666421	chr17:15644717-15644718	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs535479207	chr17:15644720-15644721	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs371423871	chr17:15644721-15644722	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
21	rs547201928	chr17:15644743-15644744	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs62072380	chr17:15644745-15644746	Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs116715064	chr17:15644845-15644846	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
24	rs549369754	chr17:15644872-15644873	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
25	rs569247307	chr17:15644875-15644876	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs62072381	chr17:15644898-15644899	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
27	rs202246452	chr17:15644902-15644903	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
28	rs74516175	chr17:15644903-15644904	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
29	rs398078908	chr17:15644904-15644905	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
30	rs537820246	chr17:15644926-15644927	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
31	rs558259709	chr17:15644938-15644939	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs577700537	chr17:15644940-15644941	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs539287104	chr17:15644957-15644958	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs552744631	chr17:15644966-15644967	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs149981327	chr17:15644999-15645000	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs542117333	chr17:15645017-15645018	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs571602964	chr17:15645102-15645103	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs575218158	chr17:15645133-15645134	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs543843846	chr17:15645141-15645142	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
40	rs189760905	chr17:15645192-15645193	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
41	rs370843078	chr17:15645218-15645219	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
42	rs533052229	chr17:15645231-15645232	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
43	rs201575162	chr17:15645243-15645244	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
44	rs375067059	chr17:15645258-15645259	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
45	rs75518324	chr17:15645261-15645262	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
46	rs529472345	chr17:15645266-15645267	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
47	rs192774848	chr17:15645281-15645282	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
48	rs200550508	chr17:15645284-15645285	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
49	rs17855672	chr17:15645289-15645290	Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs367840777	chr17:15645299-15645300	Weak transcription ZNF genes & repeats	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15637400-15647400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:15639400-15646400	Weak transcription	Placenta	Placenta
3	chr17:15644200-15646000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:15645200-15646400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:15645600-15646000	Flanking Active TSS	Lung	lung
6	chr17:15646000-15647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:15646000-15647600	Weak transcription	Lung	lung
8	chr17:15646400-15648400	Enhancers	Placenta	Placenta
9	chr17:15647400-15648800	Enhancers	Ovary	ovary
10	chr17:15647400-15649000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr17:15647400-15649000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:15647600-15647800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:15647600-15648000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:15647600-15648000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:15647600-15648400	Enhancers	Fetal Muscle Leg	muscle
16	chr17:15647600-15648400	Enhancers	Lung	lung

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