Variant report

Variant	nsv962288
Chromosome Location	chr17:20532244-20543222
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	CTCF	chr17:20532375-20532499	Gliobla	brain:	n/a	n/a
2	CTCF	chr17:20532390-20532539	K562	blood:	n/a	n/a
3	CTCF	chr17:20532360-20532510	GM12865	blood:	n/a	n/a
4	CTCF	chr17:20540762-20540791	GM10248	blood:	n/a	n/a
5	CTCF	chr17:20534111-20534209	LNCaP	prostate:	n/a	chr17:20534157-20534175
6	E2F6	chr17:20536414-20536572	K562	blood:	n/a	n/a
7	FOS	chr17:20532398-20532483	MCF10A-Er-Src	breast:	n/a	chr17:20532419-20532428 chr17:20532420-20532427 chr17:20532419-20532427
8	FOS	chr17:20532387-20532483	MCF10A-Er-Src	breast:	n/a	chr17:20532419-20532428 chr17:20532420-20532427 chr17:20532419-20532427
9	FOSL2	chr17:20532212-20532513	HepG2	liver:	n/a	chr17:20532419-20532428 chr17:20532420-20532427 chr17:20532419-20532427
10	HEY1	chr17:20536717-20536907	K562	blood:	n/a	n/a
11	MAX	chr17:20536412-20536632	K562	blood:	n/a	n/a
12	MAX	chr17:20536785-20537174	K562	blood:	n/a	chr17:20536945-20536954 chr17:20536946-20536953
13	MAX	chr17:20536717-20536964	K562	blood:	n/a	chr17:20536945-20536954 chr17:20536946-20536953
14	MYC	chr17:20536663-20537021	K562	blood:	n/a	chr17:20536945-20536954 chr17:20536946-20536953
15	POLR2A	chr17:20536762-20536954	K562	blood:	n/a	n/a
16	POLR2A	chr17:20543180-20543265	Gliobla	brain:	n/a	n/a
17	POLR2A	chr17:20532926-20532949	Gliobla	brain:	n/a	n/a
18	POLR2A	chr17:20536994-20536998	K562	blood:	n/a	n/a
19	RCOR1	chr17:20536836-20537000	K562	blood:	n/a	n/a
20	REST	chr17:20537003-20537370	H1-hESC	embryonic stem cell:	n/a	chr17:20537142-20537152
21	REST	chr17:20537099-20537303	K562	blood:	n/a	chr17:20537142-20537152
22	REST	chr17:20537003-20537391	H1-hESC	embryonic stem cell:	n/a	chr17:20537142-20537152
23	SPI1	chr17:20536847-20537032	K562	blood:	n/a	chr17:20536931-20536938
24	UBTF	chr17:20536988-20536997	K562	blood:	n/a	n/a
25	USF1	chr17:20539216-20539393	HepG2	liver:	n/a	chr17:20539326-20539337
26	USF2	chr17:20539245-20539340	Hela-S3	cervix:	n/a	chr17:20539327-20539338
27	USF2	chr17:20539181-20539498	HepG2	liver:	n/a	chr17:20539327-20539338

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20536885-20536935	MCF10A-Er-Src	breast:	n/a
2	chr17:20536948-20536998	BJ	skin:	n/a
3	chr17:20536885-20536935	HEEpiC	esophagus:	n/a
4	chr17:20536948-20536998	AG09319	gingival:	n/a
5	chr17:20536885-20536935	GM12891	blood:	n/a
6	chr17:20536948-20536998	K562	blood:	n/a
7	chr17:20536948-20536998	PFSK-1	brain:	n/a
8	chr17:20536885-20536935	AG09319	gingival:	n/a
9	chr17:20536885-20536935	GM19239	blood:	n/a
10	chr17:20536885-20536935	HCPEpiC	choroid plexus:	n/a
11	chr17:20536885-20536935	LNCaP	prostate:	n/a
12	chr17:20536885-20536935	Caco-2	colon:	n/a
13	chr17:20536948-20536998	GM12878	blood:	n/a
14	chr17:20536948-20536998	LNCaP	prostate:	n/a
15	chr17:20536948-20536998	A549	lung:	n/a
16	chr17:20536885-20536935	PANC-1	pancreas:	n/a
17	chr17:20536948-20536998	HAEpiC	amniotic membrane:	n/a
18	chr17:20536948-20536998	HCM	heart:	n/a
19	chr17:20536885-20536935	GM06990	blood:	n/a
20	chr17:20536948-20536998	AG10803	skin:	n/a
21	chr17:20536948-20536998	Hela-S3	cervix:	n/a
22	chr17:20536948-20536998	SK-N-SH_RA	brain:	n/a
23	chr17:20536885-20536935	SK-N-SH	brain:	n/a
24	chr17:20536885-20536935	Hepatocyte	liver:	n/a
25	chr17:20536948-20536998	HL-60	blood:	n/a
26	chr17:20536885-20536935	HepG2	liver:	n/a
27	chr17:20536948-20536998	HIPEpiC	eye:	n/a
28	chr17:20536885-20536935	MCF-7	breast:	n/a
29	chr17:20536885-20536935	Hela-S3	cervix:	n/a
30	chr17:20536948-20536998	AG04449	skin:	fetal
31	chr17:20536948-20536998	GM12891	blood:	n/a
32	chr17:20536885-20536935	HRE	kidney:	n/a
33	chr17:20536885-20536935	SK-N-SH_RA	brain:	n/a
34	chr17:20536885-20536935	AG10803	skin:	n/a
35	chr17:20536948-20536998	ECC-1	luminal epithelium:	n/a
36	chr17:20536885-20536935	ovcar-3	ovarian:	n/a
37	chr17:20536948-20536998	NB4	blood:	n/a
38	chr17:20536948-20536998	HEK293	kidney:	embryo
39	chr17:20536948-20536998	GM19239	blood:	n/a
40	chr17:20536948-20536998	SK-N-MC	brain:	n/a
41	chr17:20536948-20536998	NT2-D1	testis:	n/a
42	chr17:20536948-20536998	HRPEpiC	eye:	n/a
43	chr17:20536885-20536935	NB4	blood:	n/a
44	chr17:20536885-20536935	GM12878	blood:	n/a
45	chr17:20536885-20536935	IMR90	lung:	fetal
46	chr17:20536948-20536998	SAEC	small airway:	n/a
47	chr17:20536948-20536998	IMR90	lung:	fetal
48	chr17:20536948-20536998	HUVEC	blood vessel:	n/a
49	chr17:20536948-20536998	ovcar-3	ovarian:	n/a
50	chr17:20536948-20536998	SKMC	muscle:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALS9B-3	chr17:20536350-20536547	ENSG00000227685.1
2	lnc-LGALS9B-3	chr17:20534785-20534862	ENSG00000227685.1
3	lnc-LGALS9B-3	chr17:20536347-20536572	NONHSAT146828

Variant related genes	Relation type
ENSG00000227685	TF binding region
ENSG00000266364	TF binding region
ENSG00000227685	CpG island
ENSG00000266364	CpG island

Extended variants
information (count: 227 )
Associated
traits (count: 149 )

Variant overlapped rSNPs/rCNVs (count:227 , 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	rs552675541	chr17:20535005-20535006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs118095221	chr17:20535074-20535075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376573011	chr17:20535078-20535079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529950160	chr17:20535091-20535092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544841044	chr17:20535115-20535116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563520340	chr17:20535123-20535124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575401186	chr17:20535141-20535142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546445336	chr17:20535155-20535156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62069299	chr17:20535192-20535193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561124288	chr17:20535222-20535223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528525119	chr17:20535226-20535227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547099791	chr17:20535270-20535271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112887056	chr17:20535304-20535305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150391834	chr17:20535340-20535341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565784650	chr17:20535351-20535352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs633984	chr17:20535432-20535433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532678475	chr17:20535488-20535489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550850996	chr17:20535506-20535507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569445236	chr17:20535520-20535521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536538127	chr17:20535554-20535555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548908221	chr17:20535583-20535584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201903532	chr17:20535617-20535618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566900066	chr17:20535619-20535620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534346776	chr17:20535639-20535640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552562590	chr17:20535656-20535657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577289584	chr17:20535666-20535667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3865276	chr17:20535693-20535694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116860998	chr17:20535853-20535854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532458250	chr17:20535869-20535870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187007111	chr17:20535918-20535919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575436349	chr17:20535926-20535927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2324036	chr17:20535931-20535932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377013000	chr17:20535935-20535936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542536036	chr17:20535936-20535937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372012523	chr17:20535942-20535943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561203468	chr17:20535946-20535947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573191536	chr17:20535992-20535993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540606679	chr17:20536005-20536006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565285585	chr17:20536100-20536101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532612306	chr17:20536169-20536170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397800912	chr17:20536186-20536187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377129030	chr17:20536189-20536190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs397689131	chr17:20536192-20536193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191575540	chr17:20536209-20536210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2955839	chr17:20536265-20536266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534112266	chr17:20536269-20536270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116509215	chr17:20536270-20536271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530342571	chr17:20536298-20536299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548581642	chr17:20536326-20536327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200265525	chr17:20536379-20536380	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:149)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20535000-20540800	Weak transcription	Right Atrium	heart
2	chr17:20536600-20537000	ZNF genes & repeats	Pancreas	Pancrea
3	chr17:20536800-20537400	Active TSS	K562	blood
4	chr17:20537000-20539200	Weak transcription	Pancreas	Pancrea
5	chr17:20539200-20539600	ZNF genes & repeats	Pancreas	Pancrea
6	chr17:20539200-20539600	Enhancers	Spleen	Spleen

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