Variant report

Variant	esv3422008
Chromosome Location	chr17:15651752-15654600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:367)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 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	CTCF	chr17:15653545-15653592	GM13976	blood:	n/a	n/a
3	CTCF	chr17:15653788-15653894	LNCaP	prostate:	n/a	n/a
4	EBF1	chr17:15651959-15652279	GM12878	blood:	n/a	n/a
5	EBF1	chr17:15651996-15652216	GM12878	blood:	n/a	n/a
6	FOXA2	chr17:15651919-15652290	A549	lung:	n/a	n/a
7	POLR2A	chr17:15652569-15652725	A549	lung:	n/a	n/a
8	POLR2A	chr17:15652594-15652680	A549	lung:	n/a	n/a
9	POLR2A	chr17:15652593-15652715	A549	lung:	n/a	n/a
10	REST	chr17:15653262-15653403	GM12878	blood:	n/a	n/a
11	SPI1	chr17:15653736-15653931	GM12878	blood:	n/a	n/a
12	USF1	chr17:15653388-15653705	A549	lung:	n/a	chr17:15653472-15653483
13	USF1	chr17:15653350-15653615	HepG2	liver:	n/a	chr17:15653472-15653483
14	USF1	chr17:15653412-15653567	HepG2	liver:	n/a	chr17:15653472-15653483
15	USF1	chr17:15653438-15653619	A549	lung:	n/a	chr17:15653472-15653483
16	USF1	chr17:15653421-15653756	A549	lung:	n/a	chr17:15653472-15653483
17	USF1	chr17:15653249-15653481	GM12878	blood:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15653096-15653146	HPAEpiC	pulmonary alveolar:	n/a
2	chr17:15653096-15653146	HPAEpiC	pulmonary alveolar:	n/a
3	chr17:15653548-15653598	SK-N-SH	brain:	n/a
4	chr17:15653548-15653598	T-47D	breast:	n/a
5	chr17:15652715-15652765	ProgFib	skin:	n/a
6	chr17:15652329-15652379	NHBE	bronchial:	n/a
7	chr17:15653548-15653598	PANC-1	pancreas:	n/a
8	chr17:15653473-15653523	NH-A	brain:	n/a
9	chr17:15653096-15653146	SK-N-SH_RA	brain:	n/a
10	chr17:15653473-15653523	HL-60	blood:	n/a
11	chr17:15653473-15653523	PrEC	prostate:	n/a
12	chr17:15652854-15652904	AG04450	lung:	fetal
13	chr17:15652329-15652379	MCF10A-Er-Src	breast:	n/a
14	chr17:15653096-15653146	HRE	kidney:	n/a
15	chr17:15653548-15653598	NHDF-neo	bronchial:	n/a
16	chr17:15653548-15653598	Caco-2	colon:	n/a
17	chr17:15653548-15653598	NT2-D1	testis:	n/a
18	chr17:15653548-15653598	HRE	kidney:	n/a
19	chr17:15652715-15652765	HCT-116	colon:	n/a
20	chr17:15652854-15652904	SK-N-SH_RA	brain:	n/a
21	chr17:15653548-15653598	HIPEpiC	eye:	n/a
22	chr17:15652715-15652765	GM19239	blood:	n/a
23	chr17:15653548-15653598	LNCaP	prostate:	n/a
24	chr17:15652329-15652379	T-47D	breast:	n/a
25	chr17:15652854-15652904	HIPEpiC	eye:	n/a
26	chr17:15653548-15653598	NH-A	brain:	n/a
27	chr17:15652854-15652904	MCF10A-Er-Src	breast:	n/a
28	chr17:15653096-15653146	PFSK-1	brain:	n/a
29	chr17:15653096-15653146	Jurkat	blood:	n/a
30	chr17:15652715-15652765	HAEpiC	amniotic membrane:	n/a
31	chr17:15652854-15652904	HPAEpiC	pulmonary alveolar:	n/a
32	chr17:15652715-15652765	AG09319	gingival:	n/a
33	chr17:15653548-15653598	HCM	heart:	n/a
34	chr17:15652329-15652379	RPTEC	kidney:	n/a
35	chr17:15652329-15652379	AG09319	gingival:	n/a
36	chr17:15652329-15652379	HCPEpiC	choroid plexus:	n/a
37	chr17:15652715-15652765	HCPEpiC	choroid plexus:	n/a
38	chr17:15652329-15652379	AG09309	skin:	n/a
39	chr17:15652854-15652904	ECC-1	luminal epithelium:	n/a
40	chr17:15652715-15652765	RPTEC	kidney:	n/a
41	chr17:15652715-15652765	HL-60	blood:	n/a
42	chr17:15652715-15652765	NT2-D1	testis:	n/a
43	chr17:15653473-15653523	T-47D	breast:	n/a
44	chr17:15653473-15653523	HRPEpiC	eye:	n/a
45	chr17:15652854-15652904	GM12892	blood:	n/a
46	chr17:15652329-15652379	IMR90	lung:	fetal
47	chr17:15652854-15652904	AG09309	skin:	n/a
48	chr17:15653473-15653523	ProgFib	skin:	n/a
49	chr17:15652329-15652379	SKMC	muscle:	n/a
50	chr17:15652329-15652379	GM12878	blood:	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:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM16-1	chr17:15652017-15652629	NONHSAT145866
2	lnc-TRIM16-2	chr17:15652075-15652506	ENSG00000233002.2

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: 92 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529326865	chr17:15651755-15651756	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146258166	chr17:15651769-15651770	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138917223	chr17:15651780-15651781	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565874904	chr17:15651796-15651797	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557794448	chr17:15651829-15651830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141264529	chr17:15651860-15651861	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150759611	chr17:15651863-15651864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553265946	chr17:15651876-15651877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573045161	chr17:15651883-15651884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557822350	chr17:15651887-15651888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs191400197	chr17:15651904-15651905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555072343	chr17:15651905-15651906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144165489	chr17:15651919-15651920	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs59623326	chr17:15651933-15651934	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374782159	chr17:15651934-15651935	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs58699635	chr17:15651939-15651940	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201170427	chr17:15651943-15651944	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs377363012	chr17:15651955-15651956	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575272282	chr17:15651967-15651968	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544341740	chr17:15651992-15651993	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368114952	chr17:15652020-15652021	Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs74836444	chr17:15652021-15652022	Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs578232632	chr17:15652025-15652026	Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs540816376	chr17:15652047-15652048	Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs560885699	chr17:15652075-15652076	Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs529560660	chr17:15652123-15652124	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs113579739	chr17:15652147-15652148	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs562753665	chr17:15652226-15652227	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs140039371	chr17:15652297-15652298	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs79266960	chr17:15652323-15652324	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs531569505	chr17:15652365-15652366	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs189392990	chr17:15652375-15652376	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs117551961	chr17:15652381-15652382	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs113975036	chr17:15652431-15652432	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs539288728	chr17:15652456-15652457	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs374803978	chr17:15652476-15652477	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs367944334	chr17:15652512-15652513	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs3752012	chr17:15652588-15652589	Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs182020554	chr17:15652589-15652590	Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs28412540	chr17:15652594-15652595	Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	mRNA abundance
41	rs2529966	chr17:15652604-15652605	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs535396375	chr17:15652648-15652649	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs555603689	chr17:15652674-15652675	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs4792665	chr17:15652694-15652695	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs537821969	chr17:15652703-15652704	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557923920	chr17:15652712-15652713	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs190068217	chr17:15652716-15652717	Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs11869390	chr17:15652749-15652750	Weak transcription Bivalent Enhancer	CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs560527272	chr17:15652790-15652791	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372713589	chr17:15652794-15652795	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15648800-15652800	Weak transcription	Ovary	ovary
2	chr17:15651400-15651800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr17:15651400-15651800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr17:15652600-15653000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
5	chr17:15652800-15653000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr17:15652800-15653000	Flanking Active TSS	Ovary	ovary
7	chr17:15652800-15653000	Flanking Active TSS	Psoas Muscle	Psoas
8	chr17:15652800-15653200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr17:15652800-15653400	Active TSS	Right Ventricle	heart
10	chr17:15653000-15654000	Active TSS	Ovary	ovary

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