Variant report

Variant	esv3348277
Chromosome Location	chr5:36247995-36251493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:36246613..36249603-chr5:36252425..36254009,2	K562	blood:
2	chr5:36239741..36244027-chr5:36245562..36251114,9	MCF-7	breast:
3	chr5:36246082..36249098-chr5:36250813..36253857,3	MCF-7	breast:
4	chr5:36246768..36250424-chr5:36250842..36254157,3	MCF-7	breast:
5	chr5:36240525..36243129-chr5:36251315..36253539,2	MCF-7	breast:
6	chr5:36246082..36249098-chr5:36250813..36253857,3	MCF-7	breast:
7	chr5:36244423..36246037-chr5:36247786..36250597,2	MCF-7	breast:
8	chr5:36246768..36250424-chr5:36250842..36254157,3	MCF-7	breast:
9	chr5:36239787..36244409-chr5:36245877..36249141,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000152620	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372881299	chr5:36248001-36248002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556942614	chr5:36248024-36248025	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183336130	chr5:36248035-36248036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539332697	chr5:36248064-36248065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376884617	chr5:36248110-36248111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572740875	chr5:36248124-36248125	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12656102	chr5:36248126-36248127	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs564802053	chr5:36248157-36248158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs17281242	chr5:36248175-36248176	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189190722	chr5:36248226-36248227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575015980	chr5:36248247-36248248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373505757	chr5:36248287-36248288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs35161198	chr5:36248395-36248396	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532375899	chr5:36248413-36248414	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570598745	chr5:36248424-36248425	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541032642	chr5:36248442-36248443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546081543	chr5:36248450-36248451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533813352	chr5:36248463-36248464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs145826965	chr5:36248470-36248471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs60083069	chr5:36248501-36248502	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs13155313	chr5:36248525-36248526	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548027839	chr5:36248540-36248541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs146525915	chr5:36248556-36248557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs138858134	chr5:36248569-36248570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369144999	chr5:36248586-36248587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs13175536	chr5:36248632-36248633	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376713316	chr5:36248685-36248686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs563121635	chr5:36248690-36248691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570446293	chr5:36248711-36248712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371337655	chr5:36248716-36248717	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7722251	chr5:36248752-36248753	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191930461	chr5:36248817-36248818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535315558	chr5:36248830-36248831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555236830	chr5:36248845-36248846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs575053007	chr5:36248886-36248887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554539282	chr5:36248898-36248899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543918914	chr5:36248951-36248952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs183042582	chr5:36248984-36248985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs377691614	chr5:36249034-36249035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs186668517	chr5:36249075-36249076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs191127465	chr5:36249143-36249144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs149338769	chr5:36249172-36249173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559318061	chr5:36249184-36249185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374729942	chr5:36249275-36249276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs1423226	chr5:36249301-36249302	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs541703889	chr5:36249302-36249303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561559169	chr5:36249325-36249326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs10473003	chr5:36249328-36249329	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs559390632	chr5:36249350-36249351	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs564753434	chr5:36249505-36249506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21147910	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36243200-36248000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:36243200-36252600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:36243400-36252800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:36243400-36253200	Weak transcription	Aorta	Aorta
5	chr5:36245000-36252600	Weak transcription	Liver	Liver
6	chr5:36246200-36253000	Weak transcription	Ovary	ovary
7	chr5:36250600-36250800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:36250800-36252600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:36251200-36251800	Enhancers	Brain Anterior Caudate	brain
10	chr5:36251400-36251600	Enhancers	Rectal Smooth Muscle	rectum

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