Variant report

Variant	esv3315495
Chromosome Location	chr17:16707627-16712325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr17:16711019-16711268	GM12878	blood:	n/a	chr17:16711188-16711198 chr17:16711187-16711198
2	BATF	chr17:16710949-16711369	GM12878	blood:	n/a	chr17:16711188-16711198 chr17:16711187-16711198
3	CTCF	chr17:16709100-16709250	K562	blood:	n/a	n/a
4	CTCF	chr17:16709100-16709250	MCF-7	breast:	n/a	n/a
5	CTCF	chr17:16709080-16709230	AG09319	gingival:	n/a	n/a
6	CTCF	chr17:16709080-16709230	HMF	breast:	n/a	n/a
7	CTCF	chr17:16709100-16709250	HBMEC	blood vessel:	n/a	n/a
8	FOXA1	chr17:16708436-16708696	T-47D	breast:	n/a	n/a
9	IRF4	chr17:16710910-16711331	GM12878	blood:	n/a	n/a
10	IRF4	chr17:16710955-16711450	GM12878	blood:	n/a	n/a
11	PAX5	chr17:16707821-16708188	GM12878	blood:	n/a	n/a
12	PAX5	chr17:16710882-16711316	GM12878	blood:	n/a	n/a
13	POLR2A	chr17:16709904-16710168	GM12878	blood:	n/a	n/a
14	POLR2A	chr17:16707828-16708125	H1-hESC	embryonic stem cell:	n/a	n/a
15	POU2F2	chr17:16707831-16708229	GM12878	blood:	n/a	n/a
16	POU2F2	chr17:16710061-16710376	GM12878	blood:	n/a	n/a
17	POU2F2	chr17:16710946-16711361	GM12878	blood:	n/a	n/a
18	SRF	chr17:16711001-16711242	GM12878	blood:	n/a	n/a
19	ZBTB33	chr17:16707882-16708167	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC144A-1	chr17:16707941-16707992	ENSG00000264729.1
2	lnc-CCDC144A-1	chr17:16708772-16709021	ENSG00000264729.1

Variant related genes	Relation type
ENSG00000264892	TF binding region
ENSG00000264729	TF binding region

Extended variants
information (count: 156 )
Associated
traits (count: 157 )

Variant overlapped rSNPs/rCNVs (count:156 , 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	rs558827789	chr17:16707639-16707640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565375752	chr17:16707651-16707652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs703788	chr17:16707669-16707670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1053571	chr17:16707686-16707687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs16963888	chr17:16707696-16707697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370384158	chr17:16707734-16707735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1053576	chr17:16707735-16707736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1063896	chr17:16707739-16707740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577927622	chr17:16707752-16707753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1053583	chr17:16707761-16707762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374119788	chr17:16707773-16707774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540618997	chr17:16707809-16707810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368412211	chr17:16707812-16707813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554250642	chr17:16707820-16707821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574180429	chr17:16707876-16707877	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs543147714	chr17:16707926-16707927	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs370823014	chr17:16707929-16707930	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs375383813	chr17:16707954-16707955	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs531949776	chr17:16708037-16708038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545348604	chr17:16708048-16708049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565551226	chr17:16708073-16708074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528009229	chr17:16708087-16708088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546978603	chr17:16708088-16708089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566968455	chr17:16708091-16708092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529692024	chr17:16708188-16708189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368721639	chr17:16708211-16708212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549473062	chr17:16708221-16708222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370732910	chr17:16708266-16708267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71225180	chr17:16708271-16708272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538845593	chr17:16708273-16708274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558508273	chr17:16708280-16708281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184234440	chr17:16708304-16708305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375783708	chr17:16708325-16708326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71225178	chr17:16708329-16708330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139517122	chr17:16708332-16708333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574093666	chr17:16708357-16708358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534644414	chr17:16708359-16708360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543111082	chr17:16708384-16708385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs603660	chr17:16708409-16708410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576488682	chr17:16708452-16708453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200064952	chr17:16708454-16708455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149263761	chr17:16708458-16708459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144449099	chr17:16708487-16708488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11078350	chr17:16708553-16708554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541327362	chr17:16708646-16708647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560505287	chr17:16708665-16708666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529654919	chr17:16708688-16708689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549434456	chr17:16708727-16708728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs778671	chr17:16708744-16708745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557042022	chr17:16708781-16708782	Weak transcription	lncRNA	n/a	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:8 , 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	chr17:16698000-16710800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr17:16698000-16711800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:16700200-16708200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr17:16708200-16708600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr17:16708200-16708600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:16708200-16708600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr17:16711600-16711800	Enhancers	Skeletal Muscle Male	skeletal muscle

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