Variant report

Variant	nsv613614
Chromosome Location	chr9:12671693-12692364
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	chr9:12676985-12677220	HepG2	liver:	n/a	chr9:12677146-12677157 chr9:12677068-12677076
2	CEBPB	chr9:12681521-12681770	A549	lung:	n/a	chr9:12681604-12681615
3	CEBPB	chr9:12690390-12690469	K562	blood:	n/a	chr9:12690390-12690401 chr9:12690390-12690403 chr9:12690390-12690403 chr9:12690390-12690403
4	CEBPB	chr9:12681471-12681796	Hela-S3	cervix:	n/a	chr9:12681604-12681615
5	CEBPB	chr9:12681461-12681946	IMR90	lung:	n/a	chr9:12681604-12681615
6	CEBPB	chr9:12681436-12681753	ECC-1	luminal epithelium:	n/a	chr9:12681604-12681615
7	CEBPB	chr9:12690305-12690523	IMR90	lung:	n/a	chr9:12690390-12690401 chr9:12690390-12690403 chr9:12690390-12690403 chr9:12690390-12690403
8	CEBPB	chr9:12681514-12681726	HepG2	liver:	n/a	chr9:12681604-12681615
9	EP300	chr9:12680294-12680793	T-47D	breast:	n/a	chr9:12680540-12680554 chr9:12680534-12680548 chr9:12680542-12680556
10	EP300	chr9:12688944-12689183	SK-N-SH_RA	brain:	n/a	chr9:12688960-12688974
11	EP300	chr9:12684849-12685415	SK-N-SH	brain:	n/a	n/a
12	FAM48A	chr9:12676829-12676997	GM12878	blood:	n/a	n/a
13	FOS	chr9:12685007-12685303	HUVEC	blood vessel:	n/a	n/a
14	FOS	chr9:12681797-12681819	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr9:12681764-12681904	MCF10A-Er-Src	breast:	n/a	n/a
16	FOSL2	chr9:12681635-12682043	A549	lung:	n/a	n/a
17	GATA2	chr9:12684848-12685429	HUVEC	blood vessel:	n/a	n/a
18	GATA3	chr9:12680252-12680725	MCF-7	breast:	n/a	n/a
19	GATA3	chr9:12684830-12685368	SK-N-SH	brain:	n/a	n/a
20	GATA3	chr9:12681510-12682063	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr9:12680244-12680691	SK-N-SH	brain:	n/a	n/a
22	GATA3	chr9:12684904-12685437	SK-N-SH	brain:	n/a	n/a
23	GATA3	chr9:12680221-12680683	T-47D	breast:	n/a	n/a
24	GATA3	chr9:12680272-12680798	SK-N-SH	brain:	n/a	n/a
25	GATA3	chr9:12688975-12689160	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr9:12680226-12680687	T-47D	breast:	n/a	n/a
27	MAFF	chr9:12685121-12685373	HepG2	liver:	n/a	chr9:12685260-12685278
28	MAFK	chr9:12685107-12685441	HepG2	liver:	n/a	chr9:12685262-12685278 chr9:12685262-12685273 chr9:12685262-12685273 chr9:12685261-12685275 chr9:12685263-12685274 chr9:12685262-12685277
29	MAFK	chr9:12677210-12677404	HepG2	liver:	n/a	n/a
30	MAFK	chr9:12677209-12677435	IMR90	lung:	n/a	n/a
31	MAFK	chr9:12685106-12685430	HepG2	liver:	n/a	chr9:12685262-12685278 chr9:12685262-12685273 chr9:12685262-12685273 chr9:12685261-12685275 chr9:12685263-12685274 chr9:12685262-12685277
32	MAFK	chr9:12684991-12685456	IMR90	lung:	n/a	chr9:12685262-12685278 chr9:12685262-12685273 chr9:12685262-12685273 chr9:12685261-12685275 chr9:12685263-12685274 chr9:12685262-12685277
33	MAFK	chr9:12685117-12685399	Hela-S3	cervix:	n/a	chr9:12685262-12685278 chr9:12685262-12685273 chr9:12685262-12685273 chr9:12685261-12685275 chr9:12685263-12685274 chr9:12685262-12685277
34	MAFK	chr9:12677174-12677474	HepG2	liver:	n/a	n/a
35	MAX	chr9:12671953-12672260	NB4	blood:	n/a	chr9:12672100-12672110
36	MXI1	chr9:12683363-12683467	GM12878	blood:	n/a	n/a
37	MYC	chr9:12672620-12672724	MCF10A-Er-Src	breast:	n/a	n/a
38	NFIC	chr9:12680244-12680809	SK-N-SH	brain:	n/a	n/a
39	NRF1	chr9:12681635-12681695	H1-hESC	embryonic stem cell:	n/a	n/a
40	PBX3	chr9:12681531-12681996	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr9:12677119-12677152	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr9:12684829-12685435	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr9:12671593-12671773	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr9:12690901-12690928	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr9:12680382-12680792	SK-N-MC	brain:	n/a	n/a
46	POLR2A	chr9:12691747-12691893	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr9:12686888-12686980	GM12878	blood:	n/a	n/a
48	POLR2A	chr9:12674465-12674568	MCF10A-Er-Src	breast:	n/a	n/a
49	SPI1	chr9:12689165-12689584	HL-60	blood:	n/a	chr9:12689394-12689403 chr9:12689388-12689401 chr9:12689390-12689399
50	STAT3	chr9:12691200-12691418	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:12607055..12609983-chr9:12671838..12674027,2	K562	blood:

Variant related genes	Relation type
TYRP1	TF binding region

Extended variants
information (count: 942 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:942 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16929332	chr9:12671693-12671694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548921545	chr9:12671714-12671715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534586912	chr9:12671733-12671734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575509386	chr9:12671736-12671737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182382743	chr9:12671763-12671764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548016557	chr9:12671831-12671832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1408798	chr9:12671856-12671857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557976757	chr9:12671874-12671875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144648695	chr9:12671884-12671885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537380119	chr9:12671919-12671920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560965654	chr9:12671957-12671958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557656134	chr9:12672014-12672015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187013424	chr9:12672052-12672053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1408799	chr9:12672097-12672098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
15	rs552995226	chr9:12672112-12672113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116056014	chr9:12672121-12672122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62538946	chr9:12672130-12672131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564965952	chr9:12672146-12672147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374654001	chr9:12672154-12672155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192997786	chr9:12672155-12672156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367895087	chr9:12672209-12672210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182514824	chr9:12672213-12672214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148401089	chr9:12672246-12672247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529909043	chr9:12672250-12672251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568140772	chr9:12672260-12672261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1408800	chr9:12672275-12672276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs537296003	chr9:12672301-12672302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1408801	chr9:12672320-12672321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551446695	chr9:12672324-12672325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571617332	chr9:12672345-12672346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537653384	chr9:12672357-12672358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557231268	chr9:12672379-12672380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9919017	chr9:12672396-12672397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs536942433	chr9:12672405-12672406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187982303	chr9:12672480-12672481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193047952	chr9:12672484-12672485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144008343	chr9:12672486-12672487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376035448	chr9:12672571-12672572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185756104	chr9:12672576-12672577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146448161	chr9:12672604-12672605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140929755	chr9:12672609-12672610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188905744	chr9:12672727-12672728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79286117	chr9:12672736-12672737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536254364	chr9:12672739-12672740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77306624	chr9:12672741-12672742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79537851	chr9:12672754-12672755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192163782	chr9:12672848-12672849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528484224	chr9:12672901-12672902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184712898	chr9:12672927-12672928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144366978	chr9:12672929-12672930	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12671200-12671800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:12671800-12672600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:12672600-12675400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:12674400-12676400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:12675400-12675600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:12675600-12677400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:12676400-12681000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:12677400-12677800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:12677800-12678000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:12678000-12678200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:12678200-12680000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:12679800-12682200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr9:12680000-12680200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:12680000-12680200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:12680000-12680800	Enhancers	Fetal Lung	lung
16	chr9:12680000-12680800	Enhancers	A549	lung
17	chr9:12680000-12681000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:12680000-12681200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr9:12680000-12681600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:12680000-12681800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr9:12680200-12680400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:12680200-12680600	Enhancers	Fetal Stomach	stomach
23	chr9:12680200-12680800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr9:12680200-12681000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:12680200-12681000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr9:12680200-12681000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:12680200-12681200	Enhancers	NHEK	skin
28	chr9:12680200-12681400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr9:12680200-12681600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr9:12680200-12681600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:12680200-12682200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:12680200-12688200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:12680400-12680600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:12680400-12681000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:12680400-12681400	Enhancers	HMEC	breast
36	chr9:12680600-12680800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:12680800-12681200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:12680800-12681200	Enhancers	NH-A	brain
39	chr9:12680800-12682600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:12681000-12681600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr9:12681000-12684200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:12681200-12684800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:12681200-12684800	Weak transcription	NH-A	brain
44	chr9:12681200-12684800	Weak transcription	NHEK	skin
45	chr9:12681400-12682000	Weak transcription	HMEC	breast
46	chr9:12681600-12682000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr9:12681800-12682200	Enhancers	Osteobl	bone
48	chr9:12682000-12682200	Enhancers	HMEC	breast
49	chr9:12682000-12684200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr9:12682200-12684800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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