Variant report

Variant	esv3346527
Chromosome Location	chr7:80669492-80678694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80547246..80549279-chr7:80669973..80672842,2	MCF-7	breast:
2	chr7:80669415..80672398-chr7:80673453..80675631,3	MCF-7	breast:
3	chr7:80669415..80672398-chr7:80673453..80675631,3	MCF-7	breast:
4	chr7:80547897..80550717-chr7:80673979..80676144,2	MCF-7	breast:
5	chr7:80538222..80539936-chr7:80670500..80672266,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075223	chromatin interactions

Extended variants
information (count: 437 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367697810	chr7:80669493-80669494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531170646	chr7:80669505-80669506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551187445	chr7:80669537-80669538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571209948	chr7:80669557-80669558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186941568	chr7:80669647-80669648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73145507	chr7:80669657-80669658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs540094324	chr7:80669714-80669715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550958913	chr7:80669755-80669756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150035606	chr7:80669771-80669772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143968319	chr7:80669806-80669807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535216805	chr7:80669843-80669844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555464797	chr7:80669859-80669860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10271057	chr7:80669861-80669862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537687091	chr7:80669874-80669875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557525209	chr7:80669892-80669893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545840681	chr7:80669893-80669894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114514449	chr7:80669994-80669995	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs540095499	chr7:80670012-80670013	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192980159	chr7:80670096-80670097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368522310	chr7:80670102-80670103	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185260189	chr7:80670163-80670164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs1208102	chr7:80670229-80670230	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs144222747	chr7:80670236-80670237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs531024180	chr7:80670262-80670263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528620856	chr7:80670266-80670267	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542521270	chr7:80670267-80670268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1208101	chr7:80670294-80670295	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564632305	chr7:80670353-80670354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs141445781	chr7:80670362-80670363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561218894	chr7:80670363-80670364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs142733867	chr7:80670395-80670396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376451132	chr7:80670406-80670407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190387009	chr7:80670425-80670426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535464261	chr7:80670438-80670439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530575629	chr7:80670440-80670441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs568978500	chr7:80670460-80670461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs151009165	chr7:80670461-80670462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs557537471	chr7:80670471-80670472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs577382157	chr7:80670472-80670473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533856816	chr7:80670479-80670480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs554070107	chr7:80670486-80670487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs550783066	chr7:80670490-80670491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573843825	chr7:80670497-80670498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12707153	chr7:80670498-80670499	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs193222207	chr7:80670501-80670502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575819782	chr7:80670505-80670506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs1208100	chr7:80670526-80670527	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs564695074	chr7:80670578-80670579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs73145514	chr7:80670584-80670585	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs540451555	chr7:80670599-80670600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80665200-80684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:80674800-80675600	Enhancers	Fetal Intestine Large	intestine
3	chr7:80674800-80675600	Enhancers	Fetal Intestine Small	intestine

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