Variant report

Variant	esv3351717
Chromosome Location	chr7:79344350-79371408
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	chr7:79363150..79365302-chr7:79371609..79373122,2	K562	blood:
2	chr7:78927254..78927762-chr7:79370740..79371579,2	MCF-7	breast:

Extended variants
information (count: 590 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576732153	chr7:79346401-79346402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1523836	chr7:79346403-79346404	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs79502076	chr7:79346418-79346419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79941686	chr7:79346420-79346421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75516674	chr7:79346422-79346423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573560788	chr7:79346439-79346440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183328846	chr7:79346458-79346459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562238695	chr7:79346503-79346504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575911841	chr7:79346512-79346513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188833404	chr7:79346576-79346577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74760618	chr7:79346589-79346590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533513591	chr7:79346614-79346615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372530258	chr7:79346631-79346632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565581388	chr7:79346635-79346636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546653092	chr7:79346654-79346655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191943893	chr7:79346694-79346695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543300170	chr7:79346710-79346711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528336838	chr7:79346738-79346739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548103261	chr7:79346743-79346744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75557175	chr7:79346770-79346771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536863286	chr7:79346819-79346820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141308670	chr7:79346880-79346881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs386715033	chr7:79346882-79346883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1523838	chr7:79346883-79346884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539548213	chr7:79346897-79346898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1523839	chr7:79346910-79346911	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs1523840	chr7:79346925-79346926	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556865151	chr7:79346936-79346937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139174954	chr7:79347049-79347050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556104411	chr7:79347129-79347130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576045992	chr7:79347186-79347187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375823898	chr7:79347202-79347203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370094580	chr7:79347203-79347204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397778815	chr7:79347212-79347213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114382488	chr7:79347248-79347249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558356490	chr7:79347277-79347278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2714707	chr7:79347341-79347342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs540739041	chr7:79347406-79347407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145301898	chr7:79347407-79347408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147612460	chr7:79347455-79347456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1403880	chr7:79347456-79347457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs78919348	chr7:79347511-79347512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530882918	chr7:79347543-79347544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550481708	chr7:79347595-79347596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371148664	chr7:79347596-79347597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570640771	chr7:79347635-79347636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532858513	chr7:79347673-79347674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541079508	chr7:79347720-79347721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113766090	chr7:79347767-79347768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375860528	chr7:79347783-79347784	Weak transcription	n/a	n/a	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
Cancer	20164920	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	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

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79346400-79346600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:79346400-79347000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:79346600-79348400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:79348400-79348600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr7:79348400-79348800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:79348600-79349200	Enhancers	Left Ventricle	heart
7	chr7:79348600-79351000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:79348800-79349200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr7:79348800-79353800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:79349000-79349200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:79349000-79349200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:79349000-79349400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:79349000-79349400	Enhancers	Brain Germinal Matrix	brain
14	chr7:79349000-79349600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:79349200-79350000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:79351000-79351200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr7:79353200-79354000	Enhancers	Fetal Kidney	kidney
18	chr7:79353800-79354400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:79354000-79357200	Weak transcription	Fetal Kidney	kidney
20	chr7:79356000-79356600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:79361400-79361600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:79362600-79363400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:79363400-79364000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:79363600-79363800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:79363600-79364200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:79368400-79369000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:79370000-79372800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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