Variant report

Variant	esv3400522
Chromosome Location	chr7:14420243-14420828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191923356	chr7:14420374-14420375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183657821	chr7:14420456-14420457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187894349	chr7:14420465-14420466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191197085	chr7:14420466-14420467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538846669	chr7:14420477-14420478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559336938	chr7:14420481-14420482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575964970	chr7:14420484-14420485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12699611	chr7:14420512-14420513	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs554970864	chr7:14420519-14420520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77636852	chr7:14420538-14420539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539531447	chr7:14420546-14420547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540751216	chr7:14420617-14420618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560368765	chr7:14420632-14420633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532377615	chr7:14420650-14420651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117231902	chr7:14420695-14420696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552102722	chr7:14420696-14420697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182240149	chr7:14420740-14420741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35776061	chr7:14420753-14420754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547804529	chr7:14420788-14420789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186905278	chr7:14420793-14420794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142880121	chr7:14420818-14420819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	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
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14417600-14420600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:14417600-14421200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:14418000-14420600	Weak transcription	NH-A	brain
4	chr7:14418600-14421200	Weak transcription	HSMM	muscle
5	chr7:14418600-14428400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:14419000-14420600	Weak transcription	Osteobl	bone
7	chr7:14419000-14421000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:14419000-14421200	Weak transcription	NHDF-Ad	bronchial
9	chr7:14419200-14420600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:14420000-14421600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:14420000-14421800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:14420400-14421800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:14420400-14422000	Enhancers	NHEK	skin
14	chr7:14420600-14420800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:14420600-14421000	Enhancers	Osteobl	bone
16	chr7:14420600-14421400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:14420600-14421400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:14420600-14421400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:14420600-14421400	Enhancers	Pancreas	Pancrea
20	chr7:14420600-14421400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr7:14420600-14421400	Enhancers	NH-A	brain
22	chr7:14420600-14422000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:14420800-14421200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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