Variant report

Variant	esv1847603
Chromosome Location	chr17:16710840-16720741
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr17:16719169-16719457	K562	blood:	n/a	n/a
2	BACH1	chr17:16719341-16719384	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr17:16710949-16711369	GM12878	blood:	n/a	chr17:16711188-16711198 chr17:16711187-16711198
4	BATF	chr17:16711019-16711268	GM12878	blood:	n/a	chr17:16711188-16711198 chr17:16711187-16711198
5	CTCF	chr17:16719216-16719498	NHEK	skin:	n/a	n/a
6	CTCF	chr17:16718040-16718190	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr17:16719240-16719390	HMEC	breast:	n/a	n/a
8	CTCF	chr17:16719334-16719455	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chr17:16713824-16713893	GM13976	blood:	n/a	n/a
10	CTCF	chr17:16719553-16719585	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr17:16719220-16719370	SAEC	small airway:	n/a	n/a
12	CTCF	chr17:16719394-16719507	LNCaP	prostate:	n/a	n/a
13	CTCF	chr17:16714100-16714250	NB4	blood:	n/a	n/a
14	CTCF	chr17:16716458-16716534	GM13976	blood:	n/a	n/a
15	CTCF	chr17:16719240-16719390	HCT-116	colon:	n/a	n/a
16	CTCF	chr17:16719360-16719510	NHEK	skin:	n/a	n/a
17	CTCF	chr17:16720520-16720577	GM12892	blood:	n/a	n/a
18	CTCF	chr17:16719220-16719370	HMEC	breast:	n/a	n/a
19	CTCF	chr17:16719921-16719989	GM13976	blood:	n/a	n/a
20	CTCF	chr17:16719200-16719350	HEEpiC	esophagus:	n/a	n/a
21	FOS	chr17:16719328-16719385	MCF10A-Er-Src	breast:	n/a	n/a
22	FOSL2	chr17:16719261-16719478	HepG2	liver:	n/a	n/a
23	FOXA1	chr17:16715538-16715748	T-47D	breast:	n/a	n/a
24	HCFC1	chr17:16715633-16715667	K562	blood:	n/a	n/a
25	IRF4	chr17:16710910-16711331	GM12878	blood:	n/a	n/a
26	IRF4	chr17:16710955-16711450	GM12878	blood:	n/a	n/a
27	MAFF	chr17:16719174-16719440	K562	blood:	n/a	n/a
28	MAFK	chr17:16719241-16719455	K562	blood:	n/a	n/a
29	MAX	chr17:16715518-16715782	K562	blood:	n/a	n/a
30	MAX	chr17:16715522-16715744	K562	blood:	n/a	n/a
31	MAX	chr17:16715516-16715802	K562	blood:	n/a	n/a
32	MAX	chr17:16715638-16715647	Hela-S3	cervix:	n/a	n/a
33	MXI1	chr17:16715695-16715720	Hela-S3	cervix:	n/a	n/a
34	MYC	chr17:16715621-16715653	MCF10A-Er-Src	breast:	n/a	n/a
35	PAX5	chr17:16710882-16711316	GM12878	blood:	n/a	n/a
36	POU2F2	chr17:16710946-16711361	GM12878	blood:	n/a	n/a
37	RCOR1	chr17:16715518-16715718	K562	blood:	n/a	n/a
38	REST	chr17:16715455-16715867	K562	blood:	n/a	n/a
39	REST	chr17:16715296-16716094	U87	brain:	n/a	n/a
40	REST	chr17:16715387-16715872	Hela-S3	cervix:	n/a	n/a
41	REST	chr17:16715473-16715800	K562	blood:	n/a	n/a
42	REST	chr17:16715385-16715946	PFSK-1	brain:	n/a	n/a
43	REST	chr17:16715516-16715695	GM12878	blood:	n/a	n/a
44	REST	chr17:16715435-16715784	SK-N-SH	brain:	n/a	n/a
45	REST	chr17:16715509-16715764	HepG2	liver:	n/a	n/a
46	REST	chr17:16715453-16715865	A549	lung:	n/a	n/a
47	REST	chr17:16715432-16715978	GM12878	blood:	n/a	n/a
48	REST	chr17:16715327-16715906	SK-N-SH	brain:	n/a	n/a
49	REST	chr17:16715410-16715769	HepG2	liver:	n/a	n/a
50	REST	chr17:16715368-16715933	U87	brain:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000264892	TF binding region

Extended variants
information (count: 224 )
Associated
traits (count: 157 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56280749	chr17:16710840-16710841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554699043	chr17:16710868-16710869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568328331	chr17:16710921-16710922	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs537717130	chr17:16710963-16710964	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs557392638	chr17:16710966-16710967	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs577495009	chr17:16711068-16711069	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs545466055	chr17:16711076-16711077	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs145818769	chr17:16711122-16711123	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs565567070	chr17:16711131-16711132	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs528071278	chr17:16711168-16711169	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs111755303	chr17:16711215-16711216	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs572970685	chr17:16711247-16711248	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs111694558	chr17:16711305-16711306	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs541948361	chr17:16711328-16711329	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs561823105	chr17:16711363-16711364	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs183259384	chr17:16711374-16711375	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs542101236	chr17:16711378-16711379	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs530633350	chr17:16711392-16711393	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs544464490	chr17:16711423-16711424	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs564201660	chr17:16711436-16711437	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs3869512	chr17:16711477-16711478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188140519	chr17:16711478-16711479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552141101	chr17:16711488-16711489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557303980	chr17:16711539-16711540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112231066	chr17:16711542-16711543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113355537	chr17:16711571-16711572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548293307	chr17:16711573-16711574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568288655	chr17:16711586-16711587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190967505	chr17:16711666-16711667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141221135	chr17:16711704-16711705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113735856	chr17:16711712-16711713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182282888	chr17:16711727-16711728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112269140	chr17:16711734-16711735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540172877	chr17:16711756-16711757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552956884	chr17:16711774-16711775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371872271	chr17:16713854-16713855	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs142886470	chr17:16713864-16713865	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs533587667	chr17:16713876-16713877	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs375198644	chr17:16713882-16713883	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs568846666	chr17:16714137-16714138	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs537512247	chr17:16714154-16714155	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs199774728	chr17:16714161-16714162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs557858065	chr17:16714169-16714170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs375443177	chr17:16714184-16714185	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs633834	chr17:16714208-16714209	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs188656276	chr17:16714222-16714223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs2448620	chr17:16714227-16714228	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs553593122	chr17:16714241-16714242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs2621720	chr17:16714246-16714247	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs2448619	chr17:16714247-16714248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:157)

Disease	PMID	Source
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
Melanoma	18172304	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
Oral squamous cell carcinoma	17134496	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
Colorectal cancer	16774939	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric cancer	18160780	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16689600-16711600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr17:16698000-16711800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:16711600-16711800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr17:16716600-16723200	Weak transcription	Right Atrium	heart
5	chr17:16717200-16720000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:16717400-16717600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr17:16717400-16717800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:16717600-16717800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:16717600-16718000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr17:16717600-16718200	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr17:16717600-16718200	Enhancers	Right Ventricle	heart
12	chr17:16717600-16718200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr17:16717800-16719000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:16718000-16719000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr17:16718000-16719000	ZNF genes & repeats	Spleen	Spleen
16	chr17:16718600-16719200	Enhancers	A549	lung
17	chr17:16718600-16720600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr17:16719000-16719200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr17:16719000-16719200	Enhancers	NHEK	skin
20	chr17:16719000-16719400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:16719000-16723200	Weak transcription	Spleen	Spleen
22	chr17:16719000-16724000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:16719200-16720600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr17:16719200-16723600	Weak transcription	NHEK	skin
25	chr17:16719400-16720200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr17:16720200-16722400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:16720600-16722200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr17:16720600-16723000	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr17:16720600-16723200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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