Variant report

Variant	nsv892217
Chromosome Location	chr9:7919153-7978514
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	chr9:7974553-7975108	GM12878	blood:	n/a	n/a
2	ATF2	chr9:7976161-7976784	GM12878	blood:	n/a	n/a
3	ATF2	chr9:7976208-7976880	GM12878	blood:	n/a	n/a
4	BATF	chr9:7976316-7976827	GM12878	blood:	n/a	n/a
5	BCL11A	chr9:7976366-7976776	GM12878	blood:	n/a	n/a
6	BCL11A	chr9:7976370-7976767	GM12878	blood:	n/a	n/a
7	BCL11A	chr9:7967937-7968189	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCLAF1	chr9:7976310-7976902	GM12878	blood:	n/a	n/a
9	BCLAF1	chr9:7976212-7976893	GM12878	blood:	n/a	n/a
10	BHLHE40	chr9:7976330-7976914	GM12878	blood:	n/a	n/a
11	BRCA1	chr9:7967617-7968226	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr9:7937828-7938029	HepG2	liver:	n/a	chr9:7937932-7937943
13	CHD1	chr9:7976189-7977317	GM12878	blood:	n/a	n/a
14	CHD2	chr9:7976199-7976856	GM12878	blood:	n/a	n/a
15	CREB1	chr9:7976111-7976919	GM12878	blood:	n/a	n/a
16	CREB1	chr9:7976212-7976874	GM12878	blood:	n/a	n/a
17	CTCF	chr9:7978020-7978170	GM12872	blood:	n/a	n/a
18	CTCF	chr9:7932600-7932750	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr9:7974758-7974851	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr9:7945720-7945804	HepG2	liver:	n/a	n/a
21	CUX1	chr9:7974573-7975033	GM12878	blood:	n/a	n/a
22	E2F4	chr9:7971154-7971354	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F6	chr9:7936168-7936871	H1-hESC	embryonic stem cell:	n/a	n/a
24	EBF1	chr9:7976293-7976856	GM12878	blood:	n/a	n/a
25	ELF1	chr9:7976222-7976770	GM12878	blood:	n/a	n/a
26	ELK1	chr9:7977163-7977259	GM12878	blood:	n/a	n/a
27	ELK1	chr9:7976341-7976953	GM12878	blood:	n/a	n/a
28	ELK1	chr9:7974581-7974914	GM12878	blood:	n/a	n/a
29	EP300	chr9:7976245-7976849	GM12878	blood:	n/a	chr9:7976587-7976596
30	EP300	chr9:7976321-7976714	GM12878	blood:	n/a	chr9:7976587-7976596
31	EP300	chr9:7976256-7976853	GM12878	blood:	n/a	chr9:7976587-7976596
32	ETS1	chr9:7976269-7976693	GM12878	blood:	n/a	n/a
33	ETS1	chr9:7976274-7976816	GM12878	blood:	n/a	n/a
34	FAM48A	chr9:7970718-7970790	GM12878	blood:	n/a	n/a
35	FOS	chr9:7971090-7971377	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr9:7963029-7963263	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr9:7923679-7923756	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr9:7926093-7926364	HUVEC	blood vessel:	n/a	n/a
39	FOS	chr9:7923602-7923862	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr9:7935833-7936023	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr9:7971109-7971405	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr9:7963049-7963292	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr9:7971121-7971380	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr9:7935851-7936051	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr9:7952823-7952950	MCF10A-Er-Src	breast:	n/a	chr9:7952860-7952870 chr9:7952883-7952893 chr9:7952860-7952870 chr9:7952883-7952893 chr9:7952861-7952868 chr9:7952861-7952869 chr9:7952883-7952893 chr9:7952883-7952893 chr9:7952892-7952901 chr9:7952861-7952869
46	FOS	chr9:7935852-7936052	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr9:7935904-7936104	MCF10A-Er-Src	breast:	n/a	n/a
48	FOXA1	chr9:7974643-7974808	T-47D	breast:	n/a	n/a
49	FOXA1	chr9:7973291-7973764	T-47D	breast:	n/a	n/a
50	FOXA1	chr9:7973281-7973562	T-47D	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf123-4	chr9:7960830-7961188	NONHSAT130186
2	lnc-KDM4C-7	chr9:7960826-7961234	XLOC_007279
3	lnc-C9orf123-2	chr9:7925551-7925625	NONHSAT130182
4	lnc-C9orf123-4	chr9:7960413-7960662	XLOC_007643
5	lnc-C9orf123-2	chr9:7925545-7926107	XLOC_007642
6	lnc-C9orf123-2	chr9:7924794-7924818	XLOC_007642
7	lnc-C9orf123-2	chr9:7927003-7927686	NONHSAT130182
8	lnc-C9orf123-4	chr9:7960355-7960662	NONHSAT130186
9	lnc-C9orf123-4	chr9:7960830-7961080	XLOC_007643
10	lnc-KDM4C-7	chr9:7925578-7930367	XLOC_007279
11	lnc-C9orf123-7	chr9:7950413-7950662	NONHSAT130185
12	lnc-C9orf123-7	chr9:7950830-7951080	NONHSAT130185

Variant related genes	Relation type
ENSG00000226376	TF binding region
ENSG00000231902	TF binding region
AURKA	miRNA target sites
FGFR1	miRNA target sites
C7orf59	miRNA target sites
MINA	miRNA target sites

Extended variants
information (count: 2469 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2469 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2208742	chr9:7919153-7919154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560256509	chr9:7919170-7919171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527791575	chr9:7919182-7919183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552208505	chr9:7919188-7919189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112023131	chr9:7919190-7919191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570734510	chr9:7919197-7919198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138844311	chr9:7919205-7919206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550485044	chr9:7919212-7919213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568637905	chr9:7919237-7919238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16926877	chr9:7919267-7919268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs767954	chr9:7919331-7919332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs572028881	chr9:7919369-7919370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs767955	chr9:7919413-7919414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs767956	chr9:7919419-7919420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571227315	chr9:7919424-7919425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576200281	chr9:7919442-7919443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371183589	chr9:7919449-7919450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543235249	chr9:7919487-7919488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562040392	chr9:7919493-7919494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148134339	chr9:7919520-7919521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190687903	chr9:7919594-7919595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs767953	chr9:7919597-7919598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142025671	chr9:7919623-7919624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184173639	chr9:7919684-7919685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552271691	chr9:7919686-7919687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147323042	chr9:7919696-7919697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531962118	chr9:7919698-7919699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550104396	chr9:7919730-7919731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78551972	chr9:7919773-7919774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374357462	chr9:7919794-7919795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535782555	chr9:7919808-7919809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548062833	chr9:7919822-7919823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140300489	chr9:7919869-7919870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539403446	chr9:7919906-7919907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557918641	chr9:7919913-7919914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188728091	chr9:7919950-7919951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567233911	chr9:7919983-7919984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537295486	chr9:7919999-7920000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536386601	chr9:7920049-7920050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555284759	chr9:7920081-7920082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192283062	chr9:7920126-7920127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12344837	chr9:7920172-7920173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs370353893	chr9:7920198-7920199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572142762	chr9:7920226-7920227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545772232	chr9:7920268-7920269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199500120	chr9:7920290-7920291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3074877	chr9:7920291-7920292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542420390	chr9:7920292-7920293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397838601	chr9:7920303-7920304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77147092	chr9:7920304-7920305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7917600-7922200	Weak transcription	Stomach Mucosa	stomach
2	chr9:7921600-7921800	Enhancers	Primary B cells from cord blood	blood
3	chr9:7921600-7922200	Enhancers	Fetal Thymus	thymus
4	chr9:7921600-7922400	Enhancers	Thymus	Thymus
5	chr9:7921600-7922800	Enhancers	Primary B cells from peripheral blood	blood
6	chr9:7921600-7923000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:7921800-7922200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr9:7921800-7923200	Enhancers	Fetal Brain Male	brain
9	chr9:7922000-7922400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr9:7922000-7922400	Enhancers	Brain Cingulate Gyrus	brain
11	chr9:7922000-7922400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr9:7922000-7922400	Enhancers	Fetal Brain Female	brain
13	chr9:7922000-7922600	Enhancers	Brain Anterior Caudate	brain
14	chr9:7922000-7922600	Enhancers	Brain Substantia Nigra	brain
15	chr9:7922000-7922600	Enhancers	Fetal Heart	heart
16	chr9:7922000-7922800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr9:7922200-7922600	Enhancers	Brain Angular Gyrus	brain
18	chr9:7922200-7922600	Enhancers	Brain Hippocampus Middle	brain
19	chr9:7922200-7922600	Enhancers	Stomach Mucosa	stomach
20	chr9:7922200-7922800	Enhancers	Primary B cells from cord blood	blood
21	chr9:7922200-7930000	Weak transcription	Fetal Thymus	thymus
22	chr9:7922400-7929600	Weak transcription	Thymus	Thymus
23	chr9:7922800-7926200	Weak transcription	Primary B cells from cord blood	blood
24	chr9:7926800-7927200	Enhancers	Dnd41	blood
25	chr9:7929600-7931000	Enhancers	Thymus	Thymus
26	chr9:7930000-7930400	Enhancers	Fetal Thymus	thymus
27	chr9:7930200-7931200	Enhancers	Primary T cells from cord blood	blood
28	chr9:7930400-7935000	Weak transcription	Fetal Thymus	thymus
29	chr9:7930600-7931000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr9:7930600-7931000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr9:7930600-7931200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr9:7930600-7931200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr9:7930800-7931200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr9:7931000-7935000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr9:7931000-7935200	Weak transcription	Thymus	Thymus
36	chr9:7931200-7934200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr9:7931200-7935000	Weak transcription	Primary T cells from cord blood	blood
38	chr9:7931200-7935000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr9:7931200-7935000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr9:7933800-7934000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr9:7934000-7935000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr9:7934200-7934400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr9:7934400-7934800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr9:7934800-7935600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr9:7934800-7937400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr9:7935000-7935400	Enhancers	Primary T cells from cord blood	blood
47	chr9:7935000-7935400	Enhancers	Primary T cells fromperipheralblood	blood
48	chr9:7935000-7935400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr9:7935000-7935400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr9:7935000-7935400	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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