Variant report

Variant	nsv973468
Chromosome Location	chr9:7871815-7950706
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	BATF	chr9:7906884-7907087	GM12878	blood:	n/a	chr9:7906984-7906995
2	CEBPB	chr9:7896194-7896531	IMR90	lung:	n/a	chr9:7896357-7896368 chr9:7896357-7896370 chr9:7896367-7896378 chr9:7896365-7896378
3	CEBPB	chr9:7896202-7896533	HepG2	liver:	n/a	chr9:7896357-7896368 chr9:7896357-7896370 chr9:7896367-7896378 chr9:7896365-7896378
4	CEBPB	chr9:7896191-7896530	A549	lung:	n/a	chr9:7896357-7896368 chr9:7896357-7896370 chr9:7896367-7896378 chr9:7896365-7896378
5	CEBPB	chr9:7896228-7896449	H1-hESC	embryonic stem cell:	n/a	chr9:7896357-7896368 chr9:7896357-7896370 chr9:7896367-7896378 chr9:7896365-7896378
6	CEBPB	chr9:7937828-7938029	HepG2	liver:	n/a	chr9:7937932-7937943
7	CHD2	chr9:7879898-7880238	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr9:7932600-7932750	AoAF	blood vessel:	n/a	n/a
9	CTCF	chr9:7880040-7880190	WERI-Rb-1	eye:	n/a	n/a
10	CTCF	chr9:7913400-7913451	Medullo	brain:	n/a	n/a
11	CTCF	chr9:7871972-7872040	GM13976	blood:	n/a	n/a
12	CTCF	chr9:7883898-7883998	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr9:7879720-7879870	GM12866	blood:	n/a	n/a
14	CTCF	chr9:7945720-7945804	HepG2	liver:	n/a	n/a
15	CTCF	chr9:7883887-7883893	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr9:7879860-7880010	GM12868	blood:	n/a	n/a
17	CTCF	chr9:7877068-7877199	Spleen_OC	spleen:	n/a	n/a
18	E2F4	chr9:7871799-7871999	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr9:7887424-7887485	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F6	chr9:7936168-7936871	H1-hESC	embryonic stem cell:	n/a	n/a
21	EP300	chr9:7879898-7880192	H1-hESC	embryonic stem cell:	n/a	n/a
22	FOS	chr9:7926093-7926364	HUVEC	blood vessel:	n/a	n/a
23	FOS	chr9:7879545-7879911	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr9:7923679-7923756	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr9:7935851-7936051	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr9:7907061-7907259	MCF10A-Er-Src	breast:	n/a	chr9:7907163-7907170
27	FOS	chr9:7879565-7879912	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr9:7879550-7879917	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr9:7935904-7936104	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr9:7935852-7936052	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr9:7879576-7879869	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr9:7896329-7896510	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr9:7906986-7907300	MCF10A-Er-Src	breast:	n/a	chr9:7907163-7907170
34	FOS	chr9:7907072-7907280	MCF10A-Er-Src	breast:	n/a	chr9:7907163-7907170
35	FOS	chr9:7935833-7936023	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr9:7923602-7923862	MCF10A-Er-Src	breast:	n/a	n/a
37	FOXA1	chr9:7872876-7872992	T-47D	breast:	n/a	n/a
38	FOXA1	chr9:7872783-7873006	T-47D	breast:	n/a	n/a
39	GATA2	chr9:7910355-7910715	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr9:7910492-7910616	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr9:7922889-7923063	SH-SY5Y	brain:	n/a	n/a
42	IRF1	chr9:7949380-7949414	K562	blood:	n/a	n/a
43	JUND	chr9:7879712-7879790	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUND	chr9:7896266-7896466	HepG2	liver:	n/a	n/a
45	JUND	chr9:7880004-7880119	H1-hESC	embryonic stem cell:	n/a	n/a
46	JUND	chr9:7937911-7938071	HepG2	liver:	n/a	n/a
47	MAFF	chr9:7889281-7889445	HepG2	liver:	n/a	chr9:7889369-7889387
48	MAFK	chr9:7889231-7889532	HepG2	liver:	n/a	chr9:7889370-7889385 chr9:7889373-7889387 chr9:7889375-7889386 chr9:7889375-7889386 chr9:7889370-7889386 chr9:7889374-7889385
49	MAFK	chr9:7907377-7907659	HepG2	liver:	n/a	chr9:7907403-7907412 chr9:7907515-7907526
50	MAFK	chr9:7941674-7941789	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:7870342..7873066-chr9:7873519..7876251,2	K562	blood:
2	chr9:7870654..7872409-chr9:7873733..7876466,2	MCF-7	breast:
3	chr9:7870654..7872409-chr9:7873733..7876466,2	MCF-7	breast:
4	chr9:7740039..7741870-chr9:7890019..7892015,2	K562	blood:
5	chr9:7870342..7873066-chr9:7873519..7876251,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf123-2	chr9:7925551-7925625	NONHSAT130182
2	lnc-C9orf123-2	chr9:7927003-7927686	NONHSAT130182
3	lnc-C9orf123-7	chr9:7950413-7950662	NONHSAT130185
4	lnc-C9orf123-2	chr9:7924794-7924818	XLOC_007642
5	lnc-KDM4C-7	chr9:7925578-7930367	XLOC_007279
6	lnc-PTPRD-8	chr9:7888299-7888380	NONHSAT130179
7	lnc-C9orf123-2	chr9:7925545-7926107	XLOC_007642

Variant related genes	Relation type
ENSG00000226376	TF binding region
TMEM261	TF binding region
C7orf59	miRNA target sites
AURKA	miRNA target sites
MINA	miRNA target sites

Extended variants
information (count: 3587 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:3587 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181817047	chr9:7871819-7871820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4282625	chr9:7871841-7871842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12552285	chr9:7871852-7871853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs150745841	chr9:7871898-7871899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111609379	chr9:7871899-7871900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577130614	chr9:7871916-7871917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370267933	chr9:7871917-7871918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556618198	chr9:7871956-7871957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575129398	chr9:7871958-7871959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186176623	chr9:7871963-7871964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117150946	chr9:7871987-7871988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528005525	chr9:7871988-7871989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190739305	chr9:7871989-7871990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181539896	chr9:7872000-7872001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185848382	chr9:7872008-7872009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549651329	chr9:7872019-7872020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567799178	chr9:7872021-7872022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529080241	chr9:7872048-7872049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34494606	chr9:7872062-7872063	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565506031	chr9:7872071-7872072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531021319	chr9:7872098-7872099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371137531	chr9:7872151-7872152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370875905	chr9:7872165-7872166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191249344	chr9:7872220-7872221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557985442	chr9:7872228-7872229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570804688	chr9:7872230-7872231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374411823	chr9:7872232-7872233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149934416	chr9:7872283-7872284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72699843	chr9:7872337-7872338	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182622146	chr9:7872362-7872363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187744236	chr9:7872364-7872365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192040634	chr9:7872367-7872368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183389641	chr9:7872387-7872388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376516255	chr9:7872408-7872409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564791917	chr9:7872438-7872439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370333102	chr9:7872460-7872461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187706512	chr9:7872468-7872469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144985098	chr9:7872475-7872476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139905911	chr9:7872477-7872478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192261279	chr9:7872484-7872485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547050432	chr9:7872506-7872507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565541786	chr9:7872592-7872593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373619434	chr9:7872606-7872607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533147458	chr9:7872632-7872633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184324478	chr9:7872641-7872642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371724778	chr9:7872660-7872661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537883511	chr9:7872678-7872679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35398230	chr9:7872716-7872717	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568421683	chr9:7872730-7872731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143526941	chr9:7872752-7872753	Enhancers 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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7870800-7872800	Enhancers	Dnd41	blood
2	chr9:7871000-7874000	Enhancers	Fetal Thymus	thymus
3	chr9:7871200-7872200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr9:7871400-7872200	Enhancers	Thymus	Thymus
5	chr9:7871800-7872200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:7872200-7876600	Weak transcription	Thymus	Thymus
7	chr9:7876400-7879200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:7876600-7877000	ZNF genes & repeats	Thymus	Thymus
9	chr9:7876600-7877200	ZNF genes & repeats	Dnd41	blood
10	chr9:7877000-7879000	Weak transcription	Thymus	Thymus
11	chr9:7877200-7877600	Weak transcription	Dnd41	blood
12	chr9:7877600-7878000	Enhancers	Primary B cells from peripheral blood	blood
13	chr9:7877600-7879200	Enhancers	Dnd41	blood
14	chr9:7877800-7880000	Enhancers	Fetal Thymus	thymus
15	chr9:7878000-7878200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr9:7878000-7879600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr9:7878200-7878400	Enhancers	Primary hematopoietic stem cells	blood
18	chr9:7878200-7879400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr9:7878800-7880200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr9:7879000-7881000	Enhancers	Thymus	Thymus
21	chr9:7879200-7879400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:7879200-7880400	Flanking Active TSS	Dnd41	blood
23	chr9:7879200-7880800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr9:7879400-7879600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:7879400-7879800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr9:7879400-7880000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:7879400-7880000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr9:7879400-7880200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr9:7879400-7880200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr9:7879400-7880200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:7879400-7880400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:7879400-7880400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr9:7879400-7880400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr9:7879600-7880000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr9:7879600-7880200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr9:7879600-7880200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:7879600-7880400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:7879600-7880400	Enhancers	Primary B cells from peripheral blood	blood
39	chr9:7879600-7880400	Enhancers	Primary T cells from cord blood	blood
40	chr9:7879600-7880600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr9:7879600-7880800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:7879600-7880800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:7879800-7880200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:7879800-7880200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr9:7879800-7880200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr9:7879800-7880400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr9:7879800-7880400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr9:7879800-7880400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr9:7879800-7880400	Enhancers	Fetal Muscle Trunk	muscle
50	chr9:7879800-7880600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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