Variant report

Variant	nsv892218
Chromosome Location	chr9:7929372-7964559
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	chr9:7937828-7938029	HepG2	liver:	n/a	chr9:7937932-7937943
2	CTCF	chr9:7945720-7945804	HepG2	liver:	n/a	n/a
3	CTCF	chr9:7932600-7932750	AoAF	blood vessel:	n/a	n/a
4	E2F6	chr9:7936168-7936871	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOS	chr9:7935833-7936023	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr9:7963049-7963292	MCF10A-Er-Src	breast:	n/a	n/a
7	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
8	FOS	chr9:7963029-7963263	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr9:7935851-7936051	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr9:7935904-7936104	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr9:7935852-7936052	MCF10A-Er-Src	breast:	n/a	n/a
12	GATA3	chr9:7957925-7957932	SH-SY5Y	brain:	n/a	n/a
13	GATA3	chr9:7957092-7957140	SH-SY5Y	brain:	n/a	n/a
14	IRF1	chr9:7949380-7949414	K562	blood:	n/a	n/a
15	JUND	chr9:7960332-7960373	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUND	chr9:7937911-7938071	HepG2	liver:	n/a	n/a
17	MAFF	chr9:7957873-7958142	HepG2	liver:	n/a	chr9:7957991-7958009
18	MAFK	chr9:7957841-7958180	HepG2	liver:	n/a	chr9:7957993-7958008
19	MAFK	chr9:7929931-7930131	HepG2	liver:	n/a	n/a
20	MAFK	chr9:7957854-7958157	IMR90	lung:	n/a	chr9:7957993-7958008
21	MAFK	chr9:7941674-7941789	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAFK	chr9:7957861-7958134	HepG2	liver:	n/a	chr9:7957993-7958008
23	MAX	chr9:7936262-7936457	NB4	blood:	n/a	chr9:7936413-7936423
24	MYC	chr9:7947100-7947173	MCF10A-Er-Src	breast:	n/a	n/a
25	NFYB	chr9:7952752-7953032	GM12878	blood:	n/a	chr9:7952890-7952900 chr9:7952888-7952903 chr9:7952888-7952902 chr9:7952887-7952899 chr9:7952888-7952901 chr9:7952888-7952903
26	POLR2A	chr9:7946420-7946908	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr9:7961127-7961224	GM12878	blood:	n/a	n/a
28	POLR2A	chr9:7959101-7959231	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr9:7947923-7948053	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr9:7943877-7944068	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr9:7954604-7954743	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr9:7942218-7942418	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr9:7946497-7946904	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr9:7938749-7938924	MCF10A-Er-Src	breast:	n/a	n/a
35	SPI1	chr9:7947851-7948172	HL-60	blood:	n/a	chr9:7948030-7948043
36	STAT3	chr9:7933703-7933783	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr9:7962958-7963101	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr9:7961923-7962030	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr9:7951635-7951903	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr9:7961488-7961491	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-7	chr9:7925578-7930367	XLOC_007279
2	lnc-C9orf123-4	chr9:7960355-7960662	NONHSAT130186
3	lnc-C9orf123-4	chr9:7960830-7961080	XLOC_007643
4	lnc-C9orf123-4	chr9:7960413-7960662	XLOC_007643
5	lnc-KDM4C-7	chr9:7960826-7961234	XLOC_007279
6	lnc-C9orf123-7	chr9:7950830-7951080	NONHSAT130185
7	lnc-C9orf123-4	chr9:7960830-7961188	NONHSAT130186
8	lnc-C9orf123-7	chr9:7950413-7950662	NONHSAT130185

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

Extended variants
information (count: 1423 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1423 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2093483	chr9:7929372-7929373	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs569122428	chr9:7929387-7929388	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs114761432	chr9:7929395-7929396	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs555142284	chr9:7929407-7929408	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs373639972	chr9:7929412-7929413	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs574939345	chr9:7929441-7929442	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs548497409	chr9:7929446-7929447	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs567048958	chr9:7929447-7929448	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs533823984	chr9:7929460-7929461	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs191758072	chr9:7929491-7929492	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs183130874	chr9:7929642-7929643	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs537955889	chr9:7929687-7929688	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs150588086	chr9:7929690-7929691	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs34686246	chr9:7929705-7929706	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs574714280	chr9:7929721-7929722	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs187119810	chr9:7929726-7929727	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs190022927	chr9:7929734-7929735	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs182094412	chr9:7929738-7929739	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs540486974	chr9:7929803-7929804	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs546034403	chr9:7929835-7929836	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs565155853	chr9:7929849-7929850	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs115731396	chr9:7929869-7929870	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs139255246	chr9:7929870-7929871	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs562617306	chr9:7929871-7929872	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs539936301	chr9:7929950-7929951	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs373966102	chr9:7929953-7929954	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs530277339	chr9:7929964-7929965	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs187928320	chr9:7929977-7929978	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs149974638	chr9:7929978-7929979	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs554063216	chr9:7930010-7930011	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs193033325	chr9:7930024-7930025	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs552802509	chr9:7930026-7930027	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs570388773	chr9:7930046-7930047	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs185366071	chr9:7930050-7930051	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs556341075	chr9:7930076-7930077	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs114350485	chr9:7930086-7930087	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs875917	chr9:7930092-7930093	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs188485579	chr9:7930109-7930110	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs79357924	chr9:7930188-7930189	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs545792549	chr9:7930250-7930251	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs113961674	chr9:7930266-7930267	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs530498300	chr9:7930278-7930279	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs193098872	chr9:7930299-7930300	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs544194891	chr9:7930321-7930322	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs374978194	chr9:7930329-7930330	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs184156035	chr9:7930335-7930336	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs73640561	chr9:7930376-7930377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541873526	chr9:7930387-7930388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188364762	chr9:7930427-7930428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34542037	chr9:7930428-7930429	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7922200-7930000	Weak transcription	Fetal Thymus	thymus
2	chr9:7922400-7929600	Weak transcription	Thymus	Thymus
3	chr9:7929600-7931000	Enhancers	Thymus	Thymus
4	chr9:7930000-7930400	Enhancers	Fetal Thymus	thymus
5	chr9:7930200-7931200	Enhancers	Primary T cells from cord blood	blood
6	chr9:7930400-7935000	Weak transcription	Fetal Thymus	thymus
7	chr9:7930600-7931000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr9:7930600-7931000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr9:7930600-7931200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr9:7930600-7931200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr9:7930800-7931200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr9:7931000-7935000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr9:7931000-7935200	Weak transcription	Thymus	Thymus
14	chr9:7931200-7934200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr9:7931200-7935000	Weak transcription	Primary T cells from cord blood	blood
16	chr9:7931200-7935000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr9:7931200-7935000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr9:7933800-7934000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr9:7934000-7935000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr9:7934200-7934400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr9:7934400-7934800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr9:7934800-7935600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr9:7934800-7937400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr9:7935000-7935400	Enhancers	Primary T cells from cord blood	blood
25	chr9:7935000-7935400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr9:7935000-7935400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr9:7935000-7935400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr9:7935000-7935400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr9:7935000-7935400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr9:7935000-7935600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr9:7935000-7935600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr9:7935000-7935600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr9:7935000-7935600	Enhancers	Dnd41	blood
34	chr9:7935000-7936000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr9:7935000-7937400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr9:7935000-7937400	Enhancers	Primary B cells from peripheral blood	blood
37	chr9:7935000-7937400	Enhancers	Fetal Thymus	thymus
38	chr9:7935000-7938000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr9:7935200-7935400	Enhancers	Primary B cells from cord blood	blood
40	chr9:7935200-7935400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr9:7935200-7935600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr9:7935200-7936400	Enhancers	Fetal Stomach	stomach
43	chr9:7935200-7936800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr9:7935200-7938600	Enhancers	Thymus	Thymus
45	chr9:7935400-7935800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr9:7935400-7935800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr9:7935400-7935800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr9:7935400-7936000	Enhancers	Duodenum Mucosa	Duodenum
49	chr9:7935400-7936000	Enhancers	Stomach Mucosa	stomach
50	chr9:7935400-7936200	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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