Variant report

Variant	esv3340785
Chromosome Location	chr7:6926827-6931225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 230 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555347490	chr7:6926833-6926834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182019079	chr7:6926863-6926864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540854005	chr7:6926880-6926881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6463595	chr7:6926881-6926882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183714368	chr7:6926887-6926888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188478203	chr7:6926893-6926894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181252090	chr7:6926894-6926895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145068314	chr7:6926906-6926907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6463596	chr7:6926924-6926925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs111953494	chr7:6926927-6926928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147804394	chr7:6926928-6926929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199638105	chr7:6926930-6926931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543526592	chr7:6926933-6926934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6960548	chr7:6926946-6926947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571768520	chr7:6926953-6926954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62441169	chr7:6926963-6926964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370391024	chr7:6926975-6926976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374925607	chr7:6926985-6926986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59161511	chr7:6927019-6927020	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs372432282	chr7:6927068-6927069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536627548	chr7:6927081-6927082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554982801	chr7:6927084-6927085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371528275	chr7:6927101-6927102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148361580	chr7:6927166-6927167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553001082	chr7:6927167-6927168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577381944	chr7:6927203-6927204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544824865	chr7:6927216-6927217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141520873	chr7:6927220-6927221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28651267	chr7:6927259-6927260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs201745690	chr7:6927267-6927268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542245702	chr7:6927268-6927269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560983713	chr7:6927271-6927272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543159521	chr7:6927287-6927288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570877559	chr7:6927297-6927298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547744993	chr7:6927327-6927328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186602475	chr7:6927332-6927333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73063317	chr7:6927335-6927336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565595604	chr7:6927383-6927384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112986648	chr7:6927416-6927417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182070323	chr7:6927428-6927429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11974489	chr7:6927440-6927441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs530258115	chr7:6927466-6927467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548290445	chr7:6927468-6927469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566816612	chr7:6927472-6927473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11981035	chr7:6927505-6927506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs553202601	chr7:6927511-6927512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571234645	chr7:6927518-6927519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11974502	chr7:6927526-6927527	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs11974515	chr7:6927534-6927535	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs67523077	chr7:6927583-6927584	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6922600-6927600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:6923000-6927800	Weak transcription	HSMMtube	muscle
3	chr7:6926400-6928800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:6926400-6928800	Weak transcription	Right Atrium	heart
5	chr7:6927000-6930200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:6927200-6928200	Enhancers	Brain Hippocampus Middle	brain
7	chr7:6927400-6928200	Enhancers	Left Ventricle	heart
8	chr7:6927400-6928600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:6927400-6929000	Enhancers	Fetal Heart	heart
10	chr7:6927600-6928600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:6927800-6928200	Enhancers	Brain Cingulate Gyrus	brain
12	chr7:6927800-6928400	Enhancers	HSMMtube	muscle
13	chr7:6927800-6929200	Enhancers	NHDF-Ad	bronchial
14	chr7:6928000-6928200	Enhancers	Fetal Muscle Trunk	muscle
15	chr7:6928200-6929400	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:6928800-6929200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:6928800-6929200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:6928800-6929200	Enhancers	Esophagus	oesophagus
19	chr7:6928800-6929200	ZNF genes & repeats	Fetal Brain Male	brain
20	chr7:6928800-6929200	Enhancers	Gastric	stomach
21	chr7:6928800-6929200	Enhancers	Right Atrium	heart
22	chr7:6928800-6929400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:6928800-6929400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:6928800-6929400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:6928800-6929400	ZNF genes & repeats	Fetal Kidney	kidney
26	chr7:6928800-6929400	Bivalent/Poised TSS	Fetal Lung	lung
27	chr7:6928800-6929400	Enhancers	Pancreas	Pancrea
28	chr7:6929000-6929200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
29	chr7:6929000-6929400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
30	chr7:6929400-6929800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:6929600-6929800	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links