Variant report

Variant	nsv978390
Chromosome Location	chr17:20543222-20602211
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	ATF2	chr17:20552417-20552929	GM12878	blood:	n/a	n/a
2	ATF2	chr17:20552401-20552830	GM12878	blood:	n/a	n/a
3	BATF	chr17:20602187-20602524	GM12878	blood:	n/a	n/a
4	BATF	chr17:20568713-20568948	GM12878	blood:	n/a	chr17:20568784-20568795
5	BATF	chr17:20573899-20574074	GM12878	blood:	n/a	n/a
6	BATF	chr17:20552423-20552925	GM12878	blood:	n/a	n/a
7	BATF	chr17:20552419-20552811	GM12878	blood:	n/a	n/a
8	BATF	chr17:20554357-20554645	GM12878	blood:	n/a	n/a
9	BATF	chr17:20602164-20602479	GM12878	blood:	n/a	n/a
10	BCL11A	chr17:20602137-20602533	GM12878	blood:	n/a	n/a
11	BCL11A	chr17:20552374-20552875	GM12878	blood:	n/a	n/a
12	BCL11A	chr17:20559489-20559685	GM12878	blood:	n/a	n/a
13	BCL11A	chr17:20581794-20582050	GM12878	blood:	n/a	chr17:20582005-20582012
14	BCL11A	chr17:20552438-20552751	GM12878	blood:	n/a	n/a
15	BCL11A	chr17:20554375-20554592	GM12878	blood:	n/a	n/a
16	BCL11A	chr17:20602069-20602629	GM12878	blood:	n/a	n/a
17	BCL11A	chr17:20554373-20554609	GM12878	blood:	n/a	n/a
18	BHLHE40	chr17:20552469-20552691	GM12878	blood:	n/a	n/a
19	CEBPB	chr17:20557555-20557814	IMR90	lung:	n/a	chr17:20557790-20557807
20	CEBPB	chr17:20557457-20557822	Hela-S3	cervix:	n/a	chr17:20557790-20557807
21	CEBPB	chr17:20568666-20568987	K562	blood:	n/a	chr17:20568791-20568804
22	CHD1	chr17:20552549-20552628	GM12878	blood:	n/a	n/a
23	CTCF	chr17:20570040-20570190	GM12868	blood:	n/a	n/a
24	CTCF	chr17:20570154-20570333	IMR90	lung:	n/a	chr17:20570200-20570213
25	CTCF	chr17:20570130-20570237	GM13977	blood:	n/a	chr17:20570200-20570213
26	CTCF	chr17:20570139-20570200	GM10266	blood:	n/a	n/a
27	CTCF	chr17:20570124-20570282	Hela-S3	cervix:	n/a	chr17:20570200-20570213
28	CTCF	chr17:20570105-20570281	Medullo	brain:	n/a	chr17:20570200-20570213
29	CTCF	chr17:20550040-20550190	NB4	blood:	n/a	chr17:20550147-20550160
30	CTCF	chr17:20550100-20550250	GM12864	blood:	n/a	chr17:20550147-20550160
31	CTCF	chr17:20570060-20570210	AoAF	blood vessel:	n/a	n/a
32	CTCF	chr17:20550020-20550170	HMF	breast:	n/a	chr17:20550147-20550160
33	CTCF	chr17:20570175-20570276	ProgFib	skin:	n/a	chr17:20570200-20570213
34	CTCF	chr17:20549975-20550305	H1-hESC	embryonic stem cell:	n/a	chr17:20550147-20550160
35	CTCF	chr17:20550020-20550170	GM12874	blood:	n/a	chr17:20550147-20550160
36	CTCF	chr17:20570103-20570270	Spleen_OC	spleen:	n/a	chr17:20570200-20570213
37	CTCF	chr17:20550063-20550303	IMR90	lung:	n/a	chr17:20550147-20550160
38	CTCF	chr17:20570079-20570258	H1-hESC	embryonic stem cell:	n/a	chr17:20570200-20570213
39	CTCF	chr17:20550040-20550190	HFF	foreskin:	n/a	chr17:20550147-20550160
40	CTCF	chr17:20570060-20570210	HCM	heart:	n/a	n/a
41	CTCF	chr17:20550020-20550170	HEEpiC	esophagus:	n/a	chr17:20550147-20550160
42	CTCF	chr17:20550040-20550190	GM12866	blood:	n/a	chr17:20550147-20550160
43	CTCF	chr17:20581923-20581954	GM10248	blood:	n/a	n/a
44	CTCF	chr17:20570124-20570185	HepG2	liver:	n/a	n/a
45	CTCF	chr17:20550064-20550351	HepG2	liver:	n/a	chr17:20550147-20550160
46	CTCF	chr17:20550040-20550190	HFF-Myc	foreskin:	n/a	chr17:20550147-20550160
47	CTCF	chr17:20549840-20549990	GM12872	blood:	n/a	n/a
48	CTCF	chr17:20549972-20550341	H1-hESC	embryonic stem cell:	n/a	chr17:20550147-20550160
49	CTCF	chr17:20550027-20550318	GM12878	blood:	n/a	chr17:20550147-20550160
50	CTCF	chr17:20550040-20550190	GM12868	blood:	n/a	chr17:20550147-20550160

Variant related genes	Relation type
ENSG00000236504	TF binding region

Extended variants
information (count: 1499 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:1499 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141255215	chr17:20543614-20543615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560317984	chr17:20543634-20543635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572658460	chr17:20543675-20543676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546225767	chr17:20543793-20543794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376716547	chr17:20543804-20543805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372788173	chr17:20543829-20543830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535060064	chr17:20543836-20543837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564874863	chr17:20543840-20543841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191915668	chr17:20543844-20543845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550609250	chr17:20543871-20543872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562539142	chr17:20543892-20543893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183112823	chr17:20543894-20543895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187449861	chr17:20543973-20543974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150388789	chr17:20543991-20543992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534093657	chr17:20544000-20544001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552220059	chr17:20544002-20544003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371592587	chr17:20544004-20544005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570811873	chr17:20544015-20544016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376226698	chr17:20544016-20544017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578037816	chr17:20544030-20544031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75740351	chr17:20544093-20544094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556162440	chr17:20544105-20544106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184019408	chr17:20544108-20544109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535563346	chr17:20544116-20544117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111818248	chr17:20544142-20544143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs202059902	chr17:20544154-20544155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138062219	chr17:20544182-20544183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546461146	chr17:20544212-20544213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558132532	chr17:20544330-20544331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556104657	chr17:20544343-20544344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60500325	chr17:20549720-20549721	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528957491	chr17:20549740-20549741	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs144319100	chr17:20549744-20549745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs558745871	chr17:20549812-20549813	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs481678	chr17:20549839-20549840	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs576944138	chr17:20549846-20549847	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs481561	chr17:20549885-20549886	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs544354626	chr17:20549891-20549892	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs624125	chr17:20549928-20549929	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs2619235	chr17:20549950-20549951	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs562754068	chr17:20549989-20549990	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs559960842	chr17:20550029-20550030	Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs527521495	chr17:20550149-20550150	Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs574785199	chr17:20550156-20550157	Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs148765230	chr17:20550158-20550159	Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs190107111	chr17:20550193-20550194	Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs528108767	chr17:20550216-20550217	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs540240356	chr17:20550222-20550223	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs564946382	chr17:20550248-20550249	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs3912156	chr17:20550250-20550251	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:153)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20543600-20544200	Enhancers	Liver	Liver
2	chr17:20544000-20544400	Enhancers	Adipose Nuclei	Adipose
3	chr17:20549800-20550200	Enhancers	Primary B cells from peripheral blood	blood
4	chr17:20549800-20550600	Enhancers	Fetal Heart	heart
5	chr17:20550000-20550200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:20550000-20550200	Bivalent/Poised TSS	A549	lung
7	chr17:20550200-20552000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr17:20550400-20553000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:20551200-20552600	Enhancers	GM12878-XiMat	blood
10	chr17:20551600-20556400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr17:20551800-20555800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr17:20552000-20553400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr17:20552000-20555800	Enhancers	Primary B cells from peripheral blood	blood
14	chr17:20552600-20553000	Flanking Active TSS	GM12878-XiMat	blood
15	chr17:20553000-20553200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:20553000-20556000	Enhancers	GM12878-XiMat	blood
17	chr17:20553200-20554000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr17:20553400-20553800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr17:20553800-20554400	Enhancers	Primary hematopoietic stem cells	blood
20	chr17:20553800-20555600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr17:20554000-20555400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr17:20554000-20555800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:20554000-20555800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:20554200-20554600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr17:20554400-20554800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr17:20554800-20555400	Enhancers	Primary hematopoietic stem cells	blood
27	chr17:20555000-20555200	Enhancers	Placenta	Placenta
28	chr17:20556000-20557000	Weak transcription	GM12878-XiMat	blood
29	chr17:20556400-20557000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr17:20557000-20557200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr17:20557000-20557200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr17:20557000-20557200	Bivalent Enhancer	HSMMtube	muscle
33	chr17:20557000-20557400	Enhancers	GM12878-XiMat	blood
34	chr17:20557200-20557400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr17:20557200-20557600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:20557200-20557600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:20557200-20557600	Enhancers	HSMMtube	muscle
38	chr17:20557200-20558400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:20557400-20557600	Bivalent Enhancer	Placenta	Placenta
40	chr17:20557400-20557800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr17:20557600-20557800	Enhancers	Lung	lung
42	chr17:20557600-20558200	Enhancers	Placenta	Placenta
43	chr17:20558000-20558200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr17:20568000-20570200	Enhancers	Fetal Intestine Small	intestine
45	chr17:20568200-20568800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr17:20568200-20568800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:20568200-20570200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr17:20568200-20572000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr17:20568400-20568600	Enhancers	Fetal Intestine Large	intestine
50	chr17:20568400-20569600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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