Variant report

Variant	esv2760924
Chromosome Location	chr5:15716127-15730060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:15691412..15693844-chr5:15721863..15723411,2	MCF-7	breast:
2	chr5:15719277..15719777-chr8:33370846..33371373,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000129696	chromatin interactions
ENSG00000239039	chromatin interactions

Extended variants
information (count: 509 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148670025	chr5:15716135-15716136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372278199	chr5:15716210-15716211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576880027	chr5:15716213-15716214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546720627	chr5:15716250-15716251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144269379	chr5:15716255-15716256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553983600	chr5:15716277-15716278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13157120	chr5:15716280-15716281	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183973130	chr5:15716282-15716283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56161126	chr5:15716286-15716287	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs116773566	chr5:15716308-15716309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147799986	chr5:15716342-15716343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564072204	chr5:15716411-15716412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189087638	chr5:15716459-15716460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556492463	chr5:15716478-15716479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141123828	chr5:15716507-15716508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146941886	chr5:15716547-15716548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572244076	chr5:15716564-15716565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569542565	chr5:15716575-15716576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530292170	chr5:15716696-15716697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181493863	chr5:15716701-15716702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17602392	chr5:15716769-15716770	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534227666	chr5:15716773-15716774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34573446	chr5:15716847-15716848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147741456	chr5:15716943-15716944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570528796	chr5:15717034-15717035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539137790	chr5:15717035-15717036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537885059	chr5:15717119-15717120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554203605	chr5:15717175-15717176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556219728	chr5:15717199-15717200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141113194	chr5:15717202-15717203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs16867606	chr5:15717269-15717270	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs78918855	chr5:15717281-15717282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185671987	chr5:15717302-15717303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561264070	chr5:15717327-15717328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190534239	chr5:15717343-15717344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576281194	chr5:15717344-15717345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113886780	chr5:15717380-15717381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531318965	chr5:15717392-15717393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543471540	chr5:15717393-15717394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370378515	chr5:15717463-15717464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561764273	chr5:15717477-15717478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369010619	chr5:15717506-15717507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373437454	chr5:15717507-15717508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566973804	chr5:15717539-15717540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138875215	chr5:15717576-15717577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552437262	chr5:15717607-15717608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185924490	chr5:15717612-15717613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558304246	chr5:15717633-15717634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10062564	chr5:15717660-15717661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537844295	chr5:15717696-15717697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15701400-15718200	Weak transcription	Fetal Lung	lung
2	chr5:15704400-15716600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:15704800-15716400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:15705600-15718600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:15708600-15717400	Weak transcription	Aorta	Aorta
6	chr5:15713400-15717200	Weak transcription	Right Atrium	heart
7	chr5:15715200-15720600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:15715600-15717600	Enhancers	Fetal Stomach	stomach
9	chr5:15715600-15717800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:15715600-15718200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:15715600-15720400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:15715600-15720600	Enhancers	Fetal Heart	heart
13	chr5:15715800-15716200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr5:15715800-15716800	Enhancers	Brain Substantia Nigra	brain
15	chr5:15715800-15717800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:15715800-15717800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:15715800-15718200	Enhancers	NHDF-Ad	bronchial
18	chr5:15716000-15716200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:15716000-15716200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:15716000-15716600	Enhancers	Brain Cingulate Gyrus	brain
21	chr5:15716000-15717400	Enhancers	Stomach Smooth Muscle	stomach
22	chr5:15716000-15717600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:15716000-15717800	Enhancers	Colon Smooth Muscle	Colon
24	chr5:15716000-15718400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:15716200-15716600	Enhancers	Brain Anterior Caudate	brain
26	chr5:15716200-15716800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:15716200-15717000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:15716200-15717200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:15716200-15718800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:15716400-15716600	Enhancers	Brain Hippocampus Middle	brain
31	chr5:15716400-15716600	Enhancers	Ovary	ovary
32	chr5:15716400-15716600	Enhancers	Rectal Smooth Muscle	rectum
33	chr5:15716400-15716600	Enhancers	Right Ventricle	heart
34	chr5:15716400-15716800	Enhancers	Adipose Nuclei	Adipose
35	chr5:15716400-15716800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr5:15716400-15716800	Enhancers	Fetal Brain Female	brain
37	chr5:15716400-15717400	Enhancers	Left Ventricle	heart
38	chr5:15716400-15717600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:15716400-15717600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr5:15716400-15717600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr5:15716400-15717600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:15716400-15717600	Enhancers	Osteobl	bone
43	chr5:15716600-15716800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:15716600-15717200	Weak transcription	Right Ventricle	heart
45	chr5:15716600-15717600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr5:15716600-15717600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:15716600-15717600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:15716600-15717600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr5:15716600-15718400	Weak transcription	Brain Hippocampus Middle	brain
50	chr5:15716600-15718600	Weak transcription	Ovary	ovary

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