Variant report

Variant	esv3477483
Chromosome Location	chr7:129223993-129224655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129212812..129216194-chr7:129221295..129224141,3	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555711224	chr7:129223999-129224000	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544751280	chr7:129224009-129224010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7788855	chr7:129224014-129224015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149260649	chr7:129224029-129224030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565009665	chr7:129224079-129224080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575280227	chr7:129224091-129224092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148769858	chr7:129224150-129224151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143843546	chr7:129224157-129224158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184161351	chr7:129224218-129224219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576379298	chr7:129224221-129224222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369686228	chr7:129224271-129224272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562906569	chr7:129224316-129224317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533148970	chr7:129224346-129224347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188840474	chr7:129224347-129224348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181609720	chr7:129224361-129224362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201429641	chr7:129224389-129224390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4731600	chr7:129224399-129224400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567639759	chr7:129224410-129224411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531850750	chr7:129224488-129224489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550045428	chr7:129224551-129224552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75679411	chr7:129224594-129224595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370152824	chr7:129224648-129224649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Hodgkin''s lymphoma	18179710	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129219200-129227600	Weak transcription	HSMMtube	muscle
2	chr7:129223600-129224000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:129223800-129224000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:129224000-129226800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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