Variant report

Variant	esv2625562
Chromosome Location	chr9:6212859-6214330
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	BACH1	chr9:6212812-6213039	K562	blood:	n/a	n/a
2	CEBPB	chr9:6212719-6213056	Hela-S3	cervix:	n/a	chr9:6212887-6212896 chr9:6212885-6212896 chr9:6212885-6212898
3	CEBPB	chr9:6212815-6213033	A549	lung:	n/a	chr9:6212887-6212896 chr9:6212885-6212896 chr9:6212885-6212898
4	CEBPB	chr9:6212794-6213006	IMR90	lung:	n/a	chr9:6212887-6212896 chr9:6212885-6212896 chr9:6212885-6212898
5	E2F4	chr9:6214325-6214808	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F4	chr9:6213037-6213343	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr9:6212769-6213088	MCF10A-Er-Src	breast:	n/a	chr9:6212914-6212924 chr9:6212913-6212925 chr9:6212914-6212924 chr9:6212915-6212923
8	FOS	chr9:6212746-6213343	MCF10A-Er-Src	breast:	n/a	chr9:6212914-6212924 chr9:6212913-6212925 chr9:6212914-6212924 chr9:6212915-6212923
9	FOS	chr9:6212778-6213218	MCF10A-Er-Src	breast:	n/a	chr9:6212914-6212924 chr9:6212913-6212925 chr9:6212914-6212924 chr9:6212915-6212923
10	FOS	chr9:6212774-6213294	MCF10A-Er-Src	breast:	n/a	chr9:6212914-6212924 chr9:6212913-6212925 chr9:6212914-6212924 chr9:6212915-6212923
11	MAFF	chr9:6212762-6213081	HepG2	liver:	n/a	chr9:6212913-6212931
12	MAFF	chr9:6212760-6213051	K562	blood:	n/a	chr9:6212913-6212931
13	MAFK	chr9:6212765-6213093	IMR90	lung:	n/a	chr9:6212919-6212930 chr9:6212916-6212925 chr9:6212917-6212931 chr9:6212918-6212929 chr9:6212914-6212930 chr9:6212914-6212929 chr9:6212919-6212930
14	MAFK	chr9:6212747-6213081	Hela-S3	cervix:	n/a	chr9:6212919-6212930 chr9:6212916-6212925 chr9:6212917-6212931 chr9:6212918-6212929 chr9:6212914-6212930 chr9:6212914-6212929 chr9:6212919-6212930
15	MAFK	chr9:6212738-6213093	HepG2	liver:	n/a	chr9:6212919-6212930 chr9:6212916-6212925 chr9:6212917-6212931 chr9:6212918-6212929 chr9:6212914-6212930 chr9:6212914-6212929 chr9:6212919-6212930
16	MAFK	chr9:6212774-6213100	HepG2	liver:	n/a	chr9:6212919-6212930 chr9:6212916-6212925 chr9:6212917-6212931 chr9:6212918-6212929 chr9:6212914-6212930 chr9:6212914-6212929 chr9:6212919-6212930
17	MAFK	chr9:6212789-6213015	K562	blood:	n/a	chr9:6212919-6212930 chr9:6212916-6212925 chr9:6212917-6212931 chr9:6212918-6212929 chr9:6212914-6212930 chr9:6212914-6212929 chr9:6212919-6212930
18	STAT3	chr9:6214315-6214832	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr9:6214316-6214832	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr9:6212860-6213261	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr9:6213559-6213648	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr9:6212839-6213261	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr9:6212869-6213277	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr9:6212860-6213170	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
IL33	TF binding region

Extended variants
information (count: 147 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557710588	chr9:6212877-6212878	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs183277595	chr9:6212917-6212918	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs73396592	chr9:6212943-6212944	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs114244565	chr9:6212966-6212967	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201734087	chr9:6213036-6213037	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs75369824	chr9:6213053-6213054	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs542044114	chr9:6213075-6213076	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs560427586	chr9:6213097-6213098	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs573484399	chr9:6213100-6213101	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs563144433	chr9:6213112-6213113	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs142786072	chr9:6213146-6213147	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs928412	chr9:6213148-6213149	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564041976	chr9:6213162-6213163	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs78872954	chr9:6213168-6213169	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs148517566	chr9:6213172-6213173	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs113235998	chr9:6213185-6213186	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs542013878	chr9:6213193-6213194	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs549567814	chr9:6213220-6213221	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs373414680	chr9:6213225-6213226	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs73396597	chr9:6213250-6213251	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs115501973	chr9:6213278-6213279	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs547571510	chr9:6213297-6213298	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs565963140	chr9:6213299-6213300	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs145287946	chr9:6213340-6213341	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs116785401	chr9:6213365-6213366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs928413	chr9:6213387-6213388	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
27	rs537457369	chr9:6213454-6213455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7848215	chr9:6213468-6213469	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187215640	chr9:6213469-6213470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377764082	chr9:6213473-6213474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574070837	chr9:6213484-6213485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535156399	chr9:6213486-6213487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553987167	chr9:6213488-6213489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572291053	chr9:6213523-6213524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372596219	chr9:6213611-6213612	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs551468306	chr9:6213615-6213616	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs139607624	chr9:6213637-6213638	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs559767796	chr9:6213638-6213639	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs546084873	chr9:6213657-6213658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192286721	chr9:6213692-6213693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10815374	chr9:6213705-6213706	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575899288	chr9:6213778-6213779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543400513	chr9:6213780-6213781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183951437	chr9:6213782-6213783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528936050	chr9:6213787-6213788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189726269	chr9:6213790-6213791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192639580	chr9:6213791-6213792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145134649	chr9:6213792-6213793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536020466	chr9:6213795-6213796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563822799	chr9:6213798-6213799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	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
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6212600-6213600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:6212600-6213800	Enhancers	NHEK	skin
3	chr9:6212600-6214600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:6212800-6213400	Enhancers	HMEC	breast
5	chr9:6212800-6213600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:6212800-6213600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:6212800-6214400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:6212800-6216200	Enhancers	Hela-S3	cervix
9	chr9:6213000-6213800	Enhancers	NHDF-Ad	bronchial
10	chr9:6213000-6213800	Enhancers	Osteobl	bone
11	chr9:6213200-6213400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr9:6213200-6213400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:6213200-6213400	Enhancers	Psoas Muscle	Psoas
14	chr9:6213400-6214400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr9:6213400-6217600	Weak transcription	HMEC	breast
16	chr9:6213400-6218000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:6213600-6214000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:6213600-6214600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:6213600-6217800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:6213800-6214200	Weak transcription	NHDF-Ad	bronchial
21	chr9:6213800-6214200	Weak transcription	NHEK	skin
22	chr9:6213800-6214200	Weak transcription	Osteobl	bone
23	chr9:6214000-6214800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr9:6214000-6215200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr9:6214200-6215000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:6214200-6215400	Enhancers	NHEK	skin
27	chr9:6214200-6215800	Enhancers	NHDF-Ad	bronchial
28	chr9:6214200-6215800	Enhancers	Osteobl	bone

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