Variant report

Variant	esv3324849
Chromosome Location	chr5:36520445-36522943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542453567	chr5:36521004-36521005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562130718	chr5:36521012-36521013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531085169	chr5:36521030-36521031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551096984	chr5:36521068-36521069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570928646	chr5:36521072-36521073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533379374	chr5:36521084-36521085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2468523	chr5:36521186-36521187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201665879	chr5:36521265-36521266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145007436	chr5:36521283-36521284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566806016	chr5:36521311-36521312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535376840	chr5:36521390-36521391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555597336	chr5:36521391-36521392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78942814	chr5:36521430-36521431	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537619657	chr5:36521475-36521476	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557445078	chr5:36521522-36521523	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4371785	chr5:36521550-36521551	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs149109967	chr5:36521646-36521647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561344042	chr5:36521654-36521655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553488161	chr5:36521677-36521678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10074281	chr5:36521704-36521705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4541684	chr5:36521727-36521728	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs562362458	chr5:36521748-36521749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73091531	chr5:36521749-36521750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs146234289	chr5:36521750-36521751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544782846	chr5:36521753-36521754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564605656	chr5:36521764-36521765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190787078	chr5:36521821-36521822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547011874	chr5:36521832-36521833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566761203	chr5:36521840-36521841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182609750	chr5:36521856-36521857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73091533	chr5:36521892-36521893	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs116449920	chr5:36521947-36521948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185804109	chr5:36521969-36521970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189742735	chr5:36521978-36521979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530935153	chr5:36522026-36522027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115841858	chr5:36522046-36522047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4533917	chr5:36522098-36522099	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138808773	chr5:36522114-36522115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571094539	chr5:36522119-36522120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542581448	chr5:36522133-36522134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555802824	chr5:36522146-36522147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575993634	chr5:36522264-36522265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569791798	chr5:36522295-36522296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544848492	chr5:36522305-36522306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75432425	chr5:36522338-36522339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578187000	chr5:36522431-36522432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540372883	chr5:36522447-36522448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4072644	chr5:36522484-36522485	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs116681154	chr5:36522487-36522488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4072645	chr5:36522490-36522491	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21147910	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36521000-36521200	Enhancers	Fetal Brain Female	brain
2	chr5:36521200-36523000	Enhancers	Esophagus	oesophagus
3	chr5:36521200-36523200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr5:36521200-36523600	Weak transcription	Fetal Brain Female	brain
5	chr5:36521200-36524800	Enhancers	Right Atrium	heart
6	chr5:36521400-36521600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
7	chr5:36521400-36521600	Enhancers	Brain Anterior Caudate	brain
8	chr5:36521400-36522200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:36521400-36523000	Enhancers	Right Ventricle	heart
10	chr5:36521400-36524200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:36521400-36525200	Enhancers	Left Ventricle	heart
12	chr5:36521600-36522000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:36521600-36523000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:36521600-36523000	Enhancers	Psoas Muscle	Psoas
15	chr5:36521600-36523000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr5:36521600-36524400	Weak transcription	Brain Anterior Caudate	brain
17	chr5:36521800-36522200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:36521800-36522400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:36521800-36522800	Enhancers	Brain Cingulate Gyrus	brain
20	chr5:36521800-36523000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:36521800-36523000	Enhancers	Fetal Muscle Leg	muscle
22	chr5:36521800-36524600	Enhancers	Adipose Nuclei	Adipose
23	chr5:36522000-36522400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:36522000-36522400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr5:36522000-36522400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr5:36522000-36522600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:36522000-36522600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:36522000-36522800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:36522000-36522800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:36522000-36523000	Enhancers	NHEK	skin
31	chr5:36522000-36523200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:36522000-36523200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:36522000-36523200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr5:36522000-36523200	Enhancers	Fetal Muscle Trunk	muscle
35	chr5:36522000-36523800	Enhancers	Pancreas	Pancrea
36	chr5:36522200-36523000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:36522200-36523000	Enhancers	Placenta Amnion	Placenta Amnion
38	chr5:36522200-36523000	Enhancers	Stomach Smooth Muscle	stomach
39	chr5:36522200-36523200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:36522200-36524000	Enhancers	Fetal Heart	heart
41	chr5:36522400-36523000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:36522400-36523000	Enhancers	Brain Hippocampus Middle	brain
43	chr5:36522600-36522800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:36522800-36523800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:36522800-36523800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:36522800-36525400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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