Variant report

Variant	esv3322314
Chromosome Location	chr5:124465453-124467051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565215602	chr5:124465510-124465511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559766392	chr5:124465516-124465517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532601841	chr5:124465521-124465522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527833646	chr5:124465528-124465529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544417088	chr5:124465546-124465547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562713103	chr5:124465599-124465600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547600334	chr5:124465649-124465650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527929306	chr5:124465704-124465705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201937964	chr5:124465729-124465730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138610529	chr5:124465730-124465731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545189752	chr5:124465733-124465734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144228285	chr5:124465744-124465745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548224934	chr5:124465781-124465782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573856593	chr5:124465796-124465797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566382666	chr5:124465874-124465875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544479615	chr5:124465888-124465889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374343765	chr5:124465894-124465895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181704958	chr5:124465969-124465970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs70991662	chr5:124465978-124465979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200460292	chr5:124465979-124465980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113745363	chr5:124465985-124465986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201736013	chr5:124465988-124465989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13174120	chr5:124465989-124465990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13156500	chr5:124465991-124465992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs70991663	chr5:124465999-124466000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370911294	chr5:124466000-124466001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60385052	chr5:124466003-124466004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111603217	chr5:124466006-124466007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11241787	chr5:124466009-124466010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13174130	chr5:124466011-124466012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374335146	chr5:124466012-124466013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13156507	chr5:124466013-124466014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59079949	chr5:124466017-124466018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61492906	chr5:124466023-124466024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60789227	chr5:124466027-124466028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28674783	chr5:124466034-124466035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57356039	chr5:124466043-124466044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60492631	chr5:124466045-124466046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61153895	chr5:124466051-124466052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28494729	chr5:124466053-124466054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60055361	chr5:124466059-124466060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58608028	chr5:124466062-124466063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59751958	chr5:124466067-124466068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56157691	chr5:124466070-124466071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13174170	chr5:124466079-124466080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13156544	chr5:124466081-124466082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13174308	chr5:124466087-124466088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59178959	chr5:124466089-124466090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56132098	chr5:124466093-124466094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13156673	chr5:124466095-124466096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124456200-124470000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:124456200-124470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:124461400-124468200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:124464800-124465600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:124464800-124465600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:124464800-124465600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:124464800-124465600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:124464800-124465600	Enhancers	HMEC	breast
9	chr5:124464800-124465800	Enhancers	NHEK	skin
10	chr5:124465200-124465600	Enhancers	HUVEC	blood vessel
11	chr5:124465200-124465600	Enhancers	NHDF-Ad	bronchial
12	chr5:124465400-124470000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:124465400-124471000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:124465600-124468600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:124465600-124470000	Weak transcription	HUVEC	blood vessel
16	chr5:124465600-124470000	Weak transcription	NHDF-Ad	bronchial
17	chr5:124466200-124468600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links