Variant report

Variant	nsv969694
Chromosome Location	chr9:97250110-97254596
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	chr9:97254373-97254805	GM12878	blood:	n/a	n/a
2	BACH1	chr9:97253962-97254037	K562	blood:	n/a	n/a
3	BATF	chr9:97254388-97254700	GM12878	blood:	n/a	chr9:97254488-97254498
4	BATF	chr9:97254351-97254686	GM12878	blood:	n/a	chr9:97254488-97254498
5	BCL11A	chr9:97254340-97254738	GM12878	blood:	n/a	n/a
6	BCL11A	chr9:97254407-97254725	GM12878	blood:	n/a	n/a
7	BCLAF1	chr9:97254424-97254735	GM12878	blood:	n/a	n/a
8	CHD2	chr9:97254498-97254513	GM12878	blood:	n/a	n/a
9	EP300	chr9:97253972-97254010	K562	blood:	n/a	n/a
10	EP300	chr9:97254487-97254682	GM12878	blood:	n/a	chr9:97254487-97254496 chr9:97254599-97254613
11	EP300	chr9:97254481-97254557	GM12878	blood:	n/a	chr9:97254487-97254496
12	EP300	chr9:97254522-97254731	GM12878	blood:	n/a	chr9:97254599-97254613
13	FOS	chr9:97254435-97254563	MCF10A-Er-Src	breast:	n/a	chr9:97254486-97254497 chr9:97254487-97254494 chr9:97254487-97254496 chr9:97254485-97254497
14	JUND	chr9:97250252-97250412	HepG2	liver:	n/a	n/a
15	JUND	chr9:97254366-97254636	HepG2	liver:	n/a	chr9:97254486-97254497 chr9:97254487-97254494 chr9:97254487-97254496 chr9:97254485-97254496 chr9:97254485-97254497
16	PAX5	chr9:97254494-97254614	GM12878	blood:	n/a	n/a
17	PAX5	chr9:97254382-97254693	GM12878	blood:	n/a	n/a
18	PAX5	chr9:97254411-97254878	GM12878	blood:	n/a	n/a
19	PAX5	chr9:97254443-97254705	GM12878	blood:	n/a	n/a
20	POLR2A	chr9:97251102-97251150	GM12878	blood:	n/a	n/a
21	POLR2A	chr9:97251245-97251254	GM12878	blood:	n/a	n/a
22	POLR2A	chr9:97254169-97254311	MCF10A-Er-Src	breast:	n/a	n/a
23	POU2F2	chr9:97254364-97254731	GM12878	blood:	n/a	chr9:97254510-97254525
24	POU2F2	chr9:97254370-97254913	GM12891	blood:	n/a	chr9:97254510-97254525
25	RCOR1	chr9:97254528-97254746	GM12878	blood:	n/a	n/a
26	RCOR1	chr9:97252865-97252962	K562	blood:	n/a	n/a
27	REST	chr9:97252511-97253326	SK-N-SH	brain:	n/a	n/a
28	REST	chr9:97252820-97253039	U87	brain:	n/a	n/a
29	REST	chr9:97252789-97253013	PANC-1	pancreas:	n/a	n/a
30	REST	chr9:97252753-97253139	A549	lung:	n/a	n/a
31	REST	chr9:97252593-97253335	GM12878	blood:	n/a	n/a
32	REST	chr9:97252757-97253135	PANC-1	pancreas:	n/a	n/a
33	REST	chr9:97252839-97253024	GM12878	blood:	n/a	n/a
34	REST	chr9:97252688-97253178	HCT-116	colon:	n/a	n/a
35	REST	chr9:97252560-97253291	PFSK-1	brain:	n/a	n/a
36	REST	chr9:97252740-97253185	PANC-1	pancreas:	n/a	n/a
37	REST	chr9:97252553-97253227	MCF-7	breast:	n/a	n/a
38	REST	chr9:97252796-97253084	Hela-S3	cervix:	n/a	n/a
39	REST	chr9:97252801-97253043	K562	blood:	n/a	n/a
40	REST	chr9:97252442-97253399	HL-60	blood:	n/a	n/a
41	REST	chr9:97252695-97253150	K562	blood:	n/a	n/a
42	REST	chr9:97253156-97253318	GM12878	blood:	n/a	n/a
43	REST	chr9:97252838-97253003	HepG2	liver:	n/a	n/a
44	REST	chr9:97252780-97253044	HepG2	liver:	n/a	n/a
45	REST	chr9:97252707-97253325	U87	brain:	n/a	n/a
46	REST	chr9:97252751-97253102	HepG2	liver:	n/a	n/a
47	REST	chr9:97252817-97253053	PFSK-1	brain:	n/a	n/a
48	REST	chr9:97252820-97253073	U87	brain:	n/a	n/a
49	REST	chr9:97252814-97253129	HCT-116	colon:	n/a	n/a
50	REST	chr9:97252742-97253131	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97240021..97241980-chr9:97249433..97252135,2	K562	blood:
2	chr9:97242816..97244907-chr9:97253508..97257110,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224245	TF binding region

Extended variants
information (count: 212 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:212 , 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	rs549629209	chr9:97250121-97250122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150072221	chr9:97250155-97250156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532012589	chr9:97250185-97250186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546978387	chr9:97250192-97250193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115688489	chr9:97250264-97250265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536550095	chr9:97250265-97250266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555203496	chr9:97250304-97250305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112832209	chr9:97250314-97250315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183677412	chr9:97250316-97250317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537624513	chr9:97250335-97250336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558813096	chr9:97250366-97250367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187329036	chr9:97250378-97250379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541479648	chr9:97250386-97250387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7031949	chr9:97250430-97250431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs574840800	chr9:97250434-97250435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7048688	chr9:97250445-97250446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs34884759	chr9:97250447-97250448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561205304	chr9:97250454-97250455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144389875	chr9:97250485-97250486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148724965	chr9:97250524-97250525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534946588	chr9:97250536-97250537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190171810	chr9:97250541-97250542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532571495	chr9:97250614-97250615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547632970	chr9:97250631-97250632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2790424	chr9:97250653-97250654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530361120	chr9:97250701-97250702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143569331	chr9:97250711-97250712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568222021	chr9:97250748-97250749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569655431	chr9:97250767-97250768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146775784	chr9:97250793-97250794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552257873	chr9:97250867-97250868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577827565	chr9:97250873-97250874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117447155	chr9:97250892-97250893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550471892	chr9:97250925-97250926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553242591	chr9:97250926-97250927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117654764	chr9:97250970-97250971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116581744	chr9:97250971-97250972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554634712	chr9:97250976-97250977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376874713	chr9:97250998-97250999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182384505	chr9:97250999-97251000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10993211	chr9:97251004-97251005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186869320	chr9:97251010-97251011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9409565	chr9:97251034-97251035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs192580534	chr9:97251098-97251099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541211736	chr9:97251108-97251109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79998011	chr9:97251154-97251155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs398046621	chr9:97251185-97251186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71366237	chr9:97251186-97251187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532664198	chr9:97251204-97251205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185585397	chr9:97251209-97251210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97241800-97262800	Weak transcription	Liver	Liver
2	chr9:97254000-97255400	Enhancers	GM12878-XiMat	blood

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