Variant report

Variant	nsv1051194
Chromosome Location	chr9:94371037-94394234
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	BRCA1	chr9:94374543-94374568	GM12878	blood:	n/a	n/a
2	CBX3	chr9:94391158-94391515	K562	blood:	n/a	n/a
3	CBX3	chr9:94391246-94391465	K562	blood:	n/a	n/a
4	CEBPB	chr9:94382231-94382335	HepG2	liver:	n/a	chr9:94382301-94382312
5	CEBPB	chr9:94391049-94391138	IMR90	lung:	n/a	n/a
6	CEBPB	chr9:94374685-94374732	A549	lung:	n/a	n/a
7	CTCF	chr9:94377145-94377168	GM10248	blood:	n/a	n/a
8	CTCF	chr9:94377140-94377200	LNCaP	prostate:	n/a	n/a
9	EP300	chr9:94388179-94388323	GM12878	blood:	n/a	n/a
10	FOS	chr9:94382176-94382326	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr9:94392023-94392033	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr9:94373829-94374264	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr9:94373863-94374207	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr9:94382243-94382260	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr9:94373820-94374247	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr9:94373854-94374228	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr9:94391887-94392077	MCF10A-Er-Src	breast:	n/a	n/a
18	GATA3	chr9:94393136-94393433	MCF-7	breast:	n/a	n/a
19	GATA3	chr9:94373941-94374302	A549	lung:	n/a	n/a
20	GATA3	chr9:94393190-94393413	T-47D	breast:	n/a	n/a
21	GATA3	chr9:94387204-94387431	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr9:94373835-94374449	MCF-7	breast:	n/a	n/a
23	GATA3	chr9:94373895-94374362	MCF-7	breast:	n/a	n/a
24	JUND	chr9:94374022-94374116	HepG2	liver:	n/a	chr9:94374034-94374045
25	KAP1	chr9:94391093-94391667	K562	blood:	n/a	n/a
26	MAFF	chr9:94393741-94394014	HepG2	liver:	n/a	chr9:94393857-94393875
27	MAFK	chr9:94385567-94385644	HepG2	liver:	n/a	n/a
28	MAFK	chr9:94393732-94393964	HepG2	liver:	n/a	chr9:94393858-94393873
29	MAFK	chr9:94393682-94394037	HepG2	liver:	n/a	chr9:94393858-94393873
30	MAFK	chr9:94385461-94385606	IMR90	lung:	n/a	n/a
31	MAFK	chr9:94393729-94393992	IMR90	lung:	n/a	chr9:94393858-94393873
32	MAFK	chr9:94385559-94385611	HepG2	liver:	n/a	n/a
33	MYC	chr9:94373909-94374167	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr9:94371631-94371787	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr9:94382146-94382260	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr9:94373843-94374110	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr9:94392674-94392712	Gliobla	brain:	n/a	n/a
38	POLR2A	chr9:94373566-94374350	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr9:94393774-94393956	ProgFib	skin:	n/a	n/a
40	SETDB1	chr9:94373709-94374199	U2OS	brain:	n/a	n/a
41	SETDB1	chr9:94391084-94391751	U2OS	brain:	n/a	n/a
42	SIN3AK20	chr9:94373801-94374493	MCF-7	breast:	n/a	n/a
43	STAT3	chr9:94382146-94382256	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr9:94373780-94374142	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr9:94371196-94371392	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr9:94373866-94374155	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr9:94373810-94374209	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr9:94373840-94374324	MCF10A-Er-Src	breast:	n/a	n/a
49	TCF7L2	chr9:94393248-94393614	MCF-7	breast:	n/a	chr9:94393432-94393446 chr9:94393431-94393447 chr9:94393431-94393447 chr9:94393434-94393443 chr9:94393435-94393445
50	TCF7L2	chr9:94373882-94374483	MCF-7	breast:	n/a	chr9:94374203-94374217

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94382753..94385144-chr9:94397197..94399310,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SYK-12	chr9:94373625-94374774	NONHSAT133139

Variant related genes	Relation type
PAICSP2	TF binding region
MIR3910-2	TF binding region
ENSG00000266855	chromatin interactions

Extended variants
information (count: 385 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1976220	chr9:94371037-94371038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578082711	chr9:94371038-94371039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186882960	chr9:94371059-94371060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4744071	chr9:94371065-94371066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs190574445	chr9:94371200-94371201	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs543361287	chr9:94371221-94371222	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs10992010	chr9:94371305-94371306	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573563640	chr9:94371346-94371347	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs1027268	chr9:94371350-94371351	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs562342874	chr9:94371422-94371423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532895569	chr9:94371487-94371488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551049400	chr9:94371488-94371489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145918685	chr9:94371494-94371495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10122152	chr9:94371592-94371593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs370482971	chr9:94371593-94371594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375067812	chr9:94371596-94371597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370257460	chr9:94371601-94371602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373781627	chr9:94371604-94371605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576998999	chr9:94371658-94371659	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs531503322	chr9:94371672-94371673	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs116794114	chr9:94371679-94371680	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535875855	chr9:94371695-94371696	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs182404975	chr9:94371715-94371716	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs142768660	chr9:94371716-94371717	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs146080745	chr9:94371761-94371762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs79223417	chr9:94371821-94371822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187039592	chr9:94371823-94371824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189525675	chr9:94371864-94371865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576721809	chr9:94371892-94371893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547533688	chr9:94371896-94371897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10116525	chr9:94371909-94371910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556161229	chr9:94371926-94371927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577183758	chr9:94371945-94371946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544726826	chr9:94371948-94371949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559770354	chr9:94371962-94371963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182764150	chr9:94371970-94371971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2131303	chr9:94372047-94372048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs376393917	chr9:94372057-94372058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548338834	chr9:94372067-94372068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531666196	chr9:94372072-94372073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80282030	chr9:94372098-94372099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7032324	chr9:94372099-94372100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7033289	chr9:94372138-94372139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs370298729	chr9:94372140-94372141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571004376	chr9:94372143-94372144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4744072	chr9:94372150-94372151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10820882	chr9:94372160-94372161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4743842	chr9:94372170-94372171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10618485	chr9:94372179-94372180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10820883	chr9:94372180-94372181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Mental retardation	21693067	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94368800-94374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:94373200-94374400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:94373200-94374600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:94373600-94374000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:94373600-94374400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:94373600-94374600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:94373800-94374400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr9:94373800-94374400	Enhancers	NH-A	brain
9	chr9:94374000-94374600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:94374600-94375000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:94381800-94382200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:94382600-94383800	Enhancers	Fetal Intestine Large	intestine
13	chr9:94383200-94384200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:94390800-94392800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:94392200-94392600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:94392800-94393400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:94393400-94393600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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