Variant report

Variant	nsv614916
Chromosome Location	chr9:97245822-97273659
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	ARID3A	chr9:97269975-97270547	HepG2	liver:	n/a	n/a
2	ATF2	chr9:97254373-97254805	GM12878	blood:	n/a	n/a
3	BACH1	chr9:97253962-97254037	K562	blood:	n/a	n/a
4	BATF	chr9:97254351-97254686	GM12878	blood:	n/a	chr9:97254488-97254498
5	BATF	chr9:97254388-97254700	GM12878	blood:	n/a	chr9:97254488-97254498
6	BCL11A	chr9:97254407-97254725	GM12878	blood:	n/a	n/a
7	BCL11A	chr9:97254340-97254738	GM12878	blood:	n/a	n/a
8	BCLAF1	chr9:97254424-97254735	GM12878	blood:	n/a	n/a
9	CEBPB	chr9:97270146-97270540	HepG2	liver:	n/a	n/a
10	CEBPB	chr9:97270183-97270535	HepG2	liver:	n/a	n/a
11	CEBPB	chr9:97270257-97270424	HepG2	liver:	n/a	n/a
12	CEBPB	chr9:97270166-97270600	MCF-7	breast:	n/a	n/a
13	CHD2	chr9:97254498-97254513	GM12878	blood:	n/a	n/a
14	E2F4	chr9:97271558-97271856	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr9:97254481-97254557	GM12878	blood:	n/a	chr9:97254487-97254496
16	EP300	chr9:97270243-97270539	HepG2	liver:	n/a	n/a
17	EP300	chr9:97254487-97254682	GM12878	blood:	n/a	chr9:97254487-97254496 chr9:97254599-97254613
18	EP300	chr9:97254522-97254731	GM12878	blood:	n/a	chr9:97254599-97254613
19	EP300	chr9:97270110-97270573	HepG2	liver:	n/a	n/a
20	EP300	chr9:97253972-97254010	K562	blood:	n/a	n/a
21	EP300	chr9:97270090-97270599	HepG2	liver:	n/a	n/a
22	FOS	chr9:97254435-97254563	MCF10A-Er-Src	breast:	n/a	chr9:97254486-97254497 chr9:97254487-97254494 chr9:97254487-97254496 chr9:97254485-97254497
23	FOXA1	chr9:97270102-97270644	HepG2	liver:	n/a	chr9:97270331-97270346 chr9:97270292-97270307
24	FOXA1	chr9:97270000-97270630	HepG2	liver:	n/a	chr9:97270331-97270346 chr9:97270292-97270307
25	FOXA1	chr9:97270066-97270607	HepG2	liver:	n/a	chr9:97270331-97270346 chr9:97270292-97270307
26	FOXA1	chr9:97269981-97270629	HepG2	liver:	n/a	chr9:97270331-97270346 chr9:97270292-97270307
27	FOXA1	chr9:97272907-97273196	HepG2	liver:	n/a	n/a
28	FOXA1	chr9:97270228-97270549	T-47D	breast:	n/a	chr9:97270331-97270346 chr9:97270292-97270307
29	FOXA1	chr9:97270113-97270518	T-47D	breast:	n/a	chr9:97270331-97270346 chr9:97270292-97270307
30	FOXA2	chr9:97269615-97271081	HepG2	liver:	n/a	n/a
31	FOXA2	chr9:97270102-97270482	A549	lung:	n/a	n/a
32	FOXA2	chr9:97270131-97270567	HepG2	liver:	n/a	n/a
33	GATA2	chr9:97249715-97249857	SH-SY5Y	brain:	n/a	chr9:97249751-97249772 chr9:97249758-97249765 chr9:97249753-97249769 chr9:97249758-97249765 chr9:97249758-97249765
34	GATA3	chr9:97270208-97270480	T-47D	breast:	n/a	n/a
35	GATA3	chr9:97270185-97270480	T-47D	breast:	n/a	n/a
36	GATA3	chr9:97257238-97257438	SH-SY5Y	brain:	n/a	n/a
37	GTF2F1	chr9:97249913-97249934	K562	blood:	n/a	n/a
38	HDAC2	chr9:97270140-97270541	HepG2	liver:	n/a	n/a
39	HNF4G	chr9:97270226-97270465	HepG2	liver:	n/a	n/a
40	JUND	chr9:97254366-97254636	HepG2	liver:	n/a	chr9:97254486-97254497 chr9:97254487-97254494 chr9:97254487-97254496 chr9:97254485-97254496 chr9:97254485-97254497
41	JUND	chr9:97250252-97250412	HepG2	liver:	n/a	n/a
42	MYBL2	chr9:97270032-97270624	HepG2	liver:	n/a	n/a
43	NFIC	chr9:97270084-97270540	HepG2	liver:	n/a	n/a
44	PAX5	chr9:97254443-97254705	GM12878	blood:	n/a	n/a
45	PAX5	chr9:97254411-97254878	GM12878	blood:	n/a	n/a
46	PAX5	chr9:97254382-97254693	GM12878	blood:	n/a	n/a
47	PAX5	chr9:97254494-97254614	GM12878	blood:	n/a	n/a
48	POLR2A	chr9:97266995-97267115	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr9:97265467-97265560	ProgFib	skin:	n/a	n/a
50	POLR2A	chr9:97256921-97257042	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:97242816..97244907-chr9:97253508..97257110,3	MCF-7	breast:
2	chr9:97268511..97271349-chr9:97272265..97274587,2	K562	blood:
3	chr9:97245654..97249341-chr9:97260999..97264040,3	MCF-7	breast:
4	chr9:97245654..97249341-chr9:97260999..97264040,3	MCF-7	breast:
5	chr9:97240021..97241980-chr9:97249433..97252135,2	K562	blood:
6	chr9:97270387..97272574-chr9:97275358..97278004,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBP2-3	chr9:97249934-97250102	NONHSAT133317
2	lnc-HIATL1-1	chr9:97247982-97248066	ENSG00000235311
3	lnc-HIATL1-1	chr9:97250008-97250077	ENSG00000235311
4	lnc-FBP2-3	chr9:97247734-97248160	NONHSAT133317
5	lnc-HIATL1-9	chr9:97254725-97256383	NONHSAT133319
6	lnc-HIATL1-8	chr9:97246601-97247410	NONHSAT133316

Variant related genes	Relation type
RNU6-669P	TF binding region
ENSG00000224245	TF binding region
ENSG00000202445	chromatin interactions

Extended variants
information (count: 1205 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1205 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10993208	chr9:97245822-97245823	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561985692	chr9:97245849-97245850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529281392	chr9:97245898-97245899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547943645	chr9:97245934-97245935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559899503	chr9:97245986-97245987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543360255	chr9:97245997-97245998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140464769	chr9:97246040-97246041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574718715	chr9:97246052-97246053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186444252	chr9:97246111-97246112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190831674	chr9:97246135-97246136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150407665	chr9:97246162-97246163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114558931	chr9:97246208-97246209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529732056	chr9:97246291-97246292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547830614	chr9:97246295-97246296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10821349	chr9:97246327-97246328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530487058	chr9:97246367-97246368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552612622	chr9:97246372-97246373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571100316	chr9:97246380-97246381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs118186048	chr9:97246399-97246400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537392604	chr9:97246403-97246404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553592028	chr9:97246430-97246431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568614146	chr9:97246446-97246447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535954273	chr9:97246452-97246453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557448678	chr9:97246455-97246456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549631863	chr9:97246458-97246459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575563878	chr9:97246504-97246505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111729060	chr9:97246526-97246527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7038593	chr9:97246534-97246535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs10821350	chr9:97246535-97246536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540868799	chr9:97246550-97246551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9409780	chr9:97246561-97246562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs138360361	chr9:97246585-97246586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574247127	chr9:97246593-97246594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147563125	chr9:97246594-97246595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368424326	chr9:97246601-97246602	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs144911665	chr9:97246604-97246605	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs563363754	chr9:97246633-97246634	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs530446737	chr9:97246693-97246694	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs188466295	chr9:97246732-97246733	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs564663661	chr9:97246774-97246775	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs10441776	chr9:97246795-97246796	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs547266997	chr9:97246797-97246798	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs9409562	chr9:97246817-97246818	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs148268492	chr9:97246824-97246825	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs551115522	chr9:97246860-97246861	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs149002105	chr9:97246861-97246862	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs78424012	chr9:97246862-97246863	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs60760029	chr9:97246863-97246864	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs377058588	chr9:97246864-97246865	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs371024797	chr9:97246865-97246866	Weak transcription	lncRNA	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97241800-97262800	Weak transcription	Liver	Liver
2	chr9:97244800-97246000	Enhancers	Stomach Mucosa	stomach
3	chr9:97254000-97255400	Enhancers	GM12878-XiMat	blood
4	chr9:97261000-97261200	Enhancers	Pancreas	Pancrea
5	chr9:97261000-97261400	Enhancers	Fetal Lung	lung
6	chr9:97261200-97272600	Weak transcription	Pancreas	Pancrea
7	chr9:97261400-97262200	Enhancers	Duodenum Mucosa	Duodenum
8	chr9:97263000-97265600	Weak transcription	Hela-S3	cervix
9	chr9:97269800-97271200	Enhancers	HepG2	liver
10	chr9:97270400-97270600	Enhancers	Gastric	stomach
11	chr9:97270600-97272800	Weak transcription	Gastric	stomach
12	chr9:97271200-97272800	Weak transcription	HepG2	liver
13	chr9:97272600-97272800	Enhancers	Pancreas	Pancrea
14	chr9:97272800-97273200	Weak transcription	Pancreas	Pancrea
15	chr9:97272800-97273800	Enhancers	Gastric	stomach
16	chr9:97272800-97274800	Enhancers	HepG2	liver
17	chr9:97273200-97273800	Enhancers	Pancreas	Pancrea
18	chr9:97273400-97274600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr9:97273400-97275200	Enhancers	Pancreatic Islets	Pancreatic Islet

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