Variant report

Variant	esv3378949
Chromosome Location	chr17:20886710-20888908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:20888129-20888235	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:20886481-20886812	K562	blood:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20887220-20887270	GM06990	blood:	n/a
2	chr17:20887220-20887270	GM06990	blood:	n/a
3	chr17:20887220-20887270	NH-A	brain:	n/a
4	chr17:20887220-20887270	NT2-D1	testis:	n/a
5	chr17:20887220-20887270	SK-N-MC	brain:	n/a
6	chr17:20887220-20887270	A549	lung:	n/a
7	chr17:20887220-20887270	NB4	blood:	n/a
8	chr17:20887220-20887270	K562	blood:	n/a
9	chr17:20887220-20887270	HL-60	blood:	n/a
10	chr17:20887220-20887270	SK-N-SH	brain:	n/a
11	chr17:20887220-20887270	H1-hESC	embryonic stem cell:	embryo
12	chr17:20887220-20887270	HMEC	breast:	n/a
13	chr17:20887220-20887270	BE2_C	brain:	n/a
14	chr17:20887220-20887270	HCF	heart:	n/a
15	chr17:20887220-20887270	Hepatocyte	liver:	n/a
16	chr17:20887220-20887270	HCT-116	colon:	n/a
17	chr17:20887220-20887270	HCPEpiC	choroid plexus:	n/a
18	chr17:20887220-20887270	NHDF-neo	bronchial:	n/a
19	chr17:20887220-20887270	T-47D	breast:	n/a
20	chr17:20887220-20887270	AG10803	skin:	n/a
21	chr17:20887220-20887270	Jurkat	blood:	n/a
22	chr17:20887220-20887270	PANC-1	pancreas:	n/a
23	chr17:20887220-20887270	AG04449	skin:	fetal
24	chr17:20887220-20887270	AG09309	skin:	n/a
25	chr17:20887220-20887270	HAEpiC	amniotic membrane:	n/a
26	chr17:20887220-20887270	LNCaP	prostate:	n/a
27	chr17:20887220-20887270	U87	brain:	n/a
28	chr17:20887220-20887270	HRE	kidney:	n/a
29	chr17:20887220-20887270	SK-N-SH_RA	brain:	n/a
30	chr17:20887220-20887270	IMR90	lung:	fetal
31	chr17:20887220-20887270	HPAEpiC	pulmonary alveolar:	n/a
32	chr17:20887220-20887270	NHBE	bronchial:	n/a
33	chr17:20887220-20887270	PrEC	prostate:	n/a
34	chr17:20887220-20887270	HRCEpiC	kidney:	n/a
35	chr17:20887220-20887270	GM12892	blood:	n/a
36	chr17:20887220-20887270	MCF10A-Er-Src	breast:	n/a
37	chr17:20887220-20887270	HEK293	kidney:	embryo
38	chr17:20887220-20887270	AoSMC	blood vessel:	n/a
39	chr17:20887220-20887270	GM12878	blood:	n/a
40	chr17:20887220-20887270	HIPEpiC	eye:	n/a
41	chr17:20887220-20887270	HCM	heart:	n/a
42	chr17:20887220-20887270	AG04450	lung:	fetal
43	chr17:20887220-20887270	ECC-1	luminal epithelium:	n/a
44	chr17:20887220-20887270	PFSK-1	brain:	n/a
45	chr17:20887220-20887270	CMK	blood:	n/a
46	chr17:20887220-20887270	Caco-2	colon:	n/a
47	chr17:20887220-20887270	ovcar-3	ovarian:	n/a
48	chr17:20887220-20887270	BJ	skin:	n/a
49	chr17:20887220-20887270	Hela-S3	cervix:	n/a
50	chr17:20887220-20887270	SAEC	small airway:	n/a

No data

Variant related genes	Relation type
ENSG00000263729	TF binding region
ENSG00000263729	CpG island

Extended variants
information (count: 61 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190652153	chr17:20886741-20886742	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs577044306	chr17:20886788-20886789	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs377683294	chr17:20886799-20886800	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs148530737	chr17:20886856-20886857	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529001250	chr17:20886863-20886864	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547137441	chr17:20886888-20886889	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369019768	chr17:20886899-20886900	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539632426	chr17:20886964-20886965	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558117317	chr17:20886985-20886986	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569943775	chr17:20886987-20886988	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7215714	chr17:20886989-20886990	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs555745128	chr17:20887030-20887031	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182937086	chr17:20887063-20887064	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372557785	chr17:20887088-20887089	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11871167	chr17:20887125-20887126	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs62056768	chr17:20887194-20887195	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576280760	chr17:20887209-20887210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578155277	chr17:20887210-20887211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534126715	chr17:20887217-20887218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371008671	chr17:20887221-20887222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374399216	chr17:20887225-20887226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531132189	chr17:20887228-20887229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541903642	chr17:20887259-20887260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561734523	chr17:20887289-20887290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555060145	chr17:20887292-20887293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531333975	chr17:20887299-20887300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547508092	chr17:20887313-20887314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565621717	chr17:20887331-20887332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533188129	chr17:20887336-20887337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368716726	chr17:20887344-20887345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569833270	chr17:20887345-20887346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537352548	chr17:20887362-20887363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7218108	chr17:20887387-20887388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567698254	chr17:20887397-20887398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534700288	chr17:20887446-20887447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112544089	chr17:20887448-20887449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553467912	chr17:20887482-20887483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577694746	chr17:20887556-20887557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7217861	chr17:20887576-20887577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528244513	chr17:20887689-20887690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185904761	chr17:20887726-20887727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539986001	chr17:20887762-20887763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558462856	chr17:20887767-20887768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373694626	chr17:20887790-20887791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573630929	chr17:20887801-20887802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191910536	chr17:20887807-20887808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367566678	chr17:20887940-20887941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371770545	chr17:20888036-20888037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183600515	chr17:20888084-20888085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188178441	chr17:20888102-20888103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:151)

Disease	PMID	Source
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	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
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
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
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
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17142309	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20848200-20896600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:20862600-20890800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:20871800-20886800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr17:20873200-20890200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr17:20874600-20896600	Weak transcription	Spleen	Spleen
6	chr17:20881400-20896200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr17:20882800-20887400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:20884800-20887200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:20885000-20887200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:20885800-20892800	Weak transcription	HepG2	liver
11	chr17:20886400-20887200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr17:20886400-20887200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:20886600-20886800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
14	chr17:20886800-20887000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
15	chr17:20886800-20896400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr17:20887000-20896600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr17:20887200-20890000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:20887200-20890000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:20887200-20891800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr17:20887200-20896000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:20887400-20890400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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