Variant report

Variant	esv3364071
Chromosome Location	chr7:6927627-6930525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114274938	chr7:6927678-6927679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544810430	chr7:6927703-6927704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563123899	chr7:6927708-6927709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142078620	chr7:6927728-6927729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575648117	chr7:6927747-6927748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548629426	chr7:6927752-6927753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566872839	chr7:6927769-6927770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549642390	chr7:6927824-6927825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561171697	chr7:6927825-6927826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552185928	chr7:6927841-6927842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187054166	chr7:6927862-6927863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144730003	chr7:6927885-6927886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73674195	chr7:6927901-6927902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs568673277	chr7:6927919-6927920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112352756	chr7:6927927-6927928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554622139	chr7:6927938-6927939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35940480	chr7:6927967-6927968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73674196	chr7:6927975-6927976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs190831525	chr7:6928013-6928014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35686167	chr7:6928025-6928026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558628096	chr7:6928035-6928036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115779161	chr7:6928040-6928041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544873183	chr7:6928043-6928044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573703728	chr7:6928060-6928061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113183634	chr7:6928061-6928062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73674197	chr7:6928076-6928077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560704806	chr7:6928081-6928082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527856811	chr7:6928082-6928083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546531947	chr7:6928100-6928101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183444370	chr7:6928119-6928120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35304463	chr7:6928124-6928125	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs34310064	chr7:6928130-6928131	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564090171	chr7:6928177-6928178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531608279	chr7:6928199-6928200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568431366	chr7:6928208-6928209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550429648	chr7:6928219-6928220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569081062	chr7:6928223-6928224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34502907	chr7:6928227-6928228	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548120390	chr7:6928251-6928252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111554808	chr7:6928252-6928253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34815690	chr7:6928258-6928259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185041108	chr7:6928272-6928273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189746393	chr7:6928276-6928277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182781009	chr7:6928288-6928289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558689523	chr7:6928289-6928290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188340830	chr7:6928346-6928347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575960147	chr7:6928388-6928389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140583817	chr7:6928394-6928395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556873193	chr7:6928399-6928400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192831268	chr7:6928418-6928419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6923000-6927800	Weak transcription	HSMMtube	muscle
2	chr7:6926400-6928800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:6926400-6928800	Weak transcription	Right Atrium	heart
4	chr7:6927000-6930200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:6927200-6928200	Enhancers	Brain Hippocampus Middle	brain
6	chr7:6927400-6928200	Enhancers	Left Ventricle	heart
7	chr7:6927400-6928600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:6927400-6929000	Enhancers	Fetal Heart	heart
9	chr7:6927600-6928600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:6927800-6928200	Enhancers	Brain Cingulate Gyrus	brain
11	chr7:6927800-6928400	Enhancers	HSMMtube	muscle
12	chr7:6927800-6929200	Enhancers	NHDF-Ad	bronchial
13	chr7:6928000-6928200	Enhancers	Fetal Muscle Trunk	muscle
14	chr7:6928200-6929400	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:6928800-6929200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:6928800-6929200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:6928800-6929200	Enhancers	Esophagus	oesophagus
18	chr7:6928800-6929200	ZNF genes & repeats	Fetal Brain Male	brain
19	chr7:6928800-6929200	Enhancers	Gastric	stomach
20	chr7:6928800-6929200	Enhancers	Right Atrium	heart
21	chr7:6928800-6929400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:6928800-6929400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:6928800-6929400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:6928800-6929400	ZNF genes & repeats	Fetal Kidney	kidney
25	chr7:6928800-6929400	Bivalent/Poised TSS	Fetal Lung	lung
26	chr7:6928800-6929400	Enhancers	Pancreas	Pancrea
27	chr7:6929000-6929200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
28	chr7:6929000-6929400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
29	chr7:6929400-6929800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:6929600-6929800	Enhancers	Brain Hippocampus Middle	brain

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