Variant report

Variant	nsv526378
Chromosome Location	chr9:102045144-102056057
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	CEBPB	chr9:102053995-102054253	H1-hESC	embryonic stem cell:	n/a	chr9:102054067-102054078 chr9:102054068-102054077
2	CEBPB	chr9:102053972-102054237	A549	lung:	n/a	chr9:102054067-102054078 chr9:102054068-102054077
3	CEBPB	chr9:102053988-102054195	IMR90	lung:	n/a	chr9:102054067-102054078 chr9:102054068-102054077
4	CEBPB	chr9:102053955-102054204	HepG2	liver:	n/a	chr9:102054067-102054078 chr9:102054068-102054077
5	CTCF	chr9:102046375-102046464	Pancreas_OC	pancreas:	n/a	n/a
6	EGR1	chr9:102048382-102048573	K562	blood:	n/a	n/a
7	GATA3	chr9:102045844-102045924	SH-SY5Y	brain:	n/a	n/a
8	MAFF	chr9:102048776-102048999	K562	blood:	n/a	n/a
9	MYC	chr9:102046351-102046422	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr9:102046320-102046425	MCF-7	breast:	n/a	n/a
11	POLR2A	chr9:102047807-102047945	MCF10A-Er-Src	breast:	n/a	n/a
12	UBTF	chr9:102048925-102048972	K562	blood:	n/a	n/a
13	WRNIP1	chr9:102048314-102048327	GM12878	blood:	n/a	n/a
14	ZNF263	chr9:102046344-102046608	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:102047135..102049009-chr9:102049620..102052159,2	MCF-7	breast:
2	chr9:102047027..102049139-chr9:102055624..102058057,2	MCF-7	breast:
3	chr9:102047027..102049139-chr9:102055624..102058057,2	MCF-7	breast:
4	chr9:102047135..102049009-chr9:102049620..102052159,2	MCF-7	breast:
5	chr9:102053304..102054905-chr9:102062112..102063899,2	MCF-7	breast:
6	chr9:102054861..102056372-chr9:102059573..102062558,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KRT8P11-2	chr9:102046304-102046655	NONHSAT133640

Variant related genes	Relation type
RN7SKP225	TF binding region

Extended variants
information (count: 247 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:247 , 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	rs535015660	chr9:102045905-102045906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs2114429	chr9:102046316-102046317	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557270558	chr9:102046325-102046326	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs573636070	chr9:102046329-102046330	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs111977502	chr9:102046354-102046355	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs561266074	chr9:102046373-102046374	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs530002418	chr9:102046392-102046393	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs555690867	chr9:102046425-102046426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs190291351	chr9:102046427-102046428	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs563446220	chr9:102046435-102046436	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs532655737	chr9:102046477-102046478	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs180985223	chr9:102046494-102046495	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs552600290	chr9:102046524-102046525	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs183653070	chr9:102046533-102046534	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs535064289	chr9:102046560-102046561	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs181445812	chr9:102046567-102046568	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs117327196	chr9:102046633-102046634	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs201412566	chr9:102047219-102047220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540055779	chr9:102047301-102047302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113938085	chr9:102047313-102047314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74427089	chr9:102047322-102047323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111903815	chr9:102047349-102047350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577409921	chr9:102047390-102047391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534393074	chr9:102047404-102047405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554552663	chr9:102047415-102047416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574444839	chr9:102047447-102047448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543432564	chr9:102047448-102047449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74648472	chr9:102047477-102047478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577187208	chr9:102047536-102047537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144031540	chr9:102047597-102047598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372583182	chr9:102047733-102047734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374654420	chr9:102047742-102047743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146445789	chr9:102047761-102047762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528605883	chr9:102047774-102047775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs526102	chr9:102047791-102047792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs372613511	chr9:102047802-102047803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563204134	chr9:102047804-102047805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547843595	chr9:102047813-102047814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140818320	chr9:102047870-102047871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181653631	chr9:102047892-102047893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144571852	chr9:102047940-102047941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374921356	chr9:102047996-102047997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369505925	chr9:102048010-102048011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530000037	chr9:102048012-102048013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28731428	chr9:102048028-102048029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187618056	chr9:102048070-102048071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58111537	chr9:102048075-102048076	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs191847321	chr9:102048131-102048132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182274995	chr9:102048146-102048147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534724827	chr9:102048163-102048164	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102047200-102049200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr9:102047600-102049000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:102048200-102049400	Enhancers	GM12878-XiMat	blood
4	chr9:102050800-102052000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:102053800-102054200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr9:102053800-102054200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr9:102053800-102054400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr9:102054000-102054200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:102054400-102057400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:102054400-102058400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:102055000-102055800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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