Variant report

Variant	nsv432718
Chromosome Location	chr5:15688927-15723346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:15719277..15719777-chr8:33370846..33371373,2	Hela-S3	cervix:
2	chr5:15691412..15693844-chr5:15721863..15723411,2	MCF-7	breast:
3	chr5:15691412..15693844-chr5:15721863..15723411,2	MCF-7	breast:
4	chr5:15691207..15693876-chr5:15698019..15699867,2	K562	blood:
5	chr5:15691207..15693876-chr5:15698019..15699867,2	K562	blood:

Variant related genes	Relation type
ENSG00000239039	chromatin interactions
ENSG00000129696	chromatin interactions

Extended variants
information (count: 1329 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1329 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17602097	chr5:15688927-15688928	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570348778	chr5:15688949-15688950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537713956	chr5:15688952-15688953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540534364	chr5:15689019-15689020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57092120	chr5:15689031-15689032	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs574049163	chr5:15689044-15689045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541435310	chr5:15689052-15689053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553529185	chr5:15689062-15689063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375812609	chr5:15689078-15689079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76711448	chr5:15689111-15689112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369981133	chr5:15689125-15689126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114639509	chr5:15689127-15689128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188839690	chr5:15689158-15689159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545562109	chr5:15689188-15689189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545610674	chr5:15689206-15689207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562867700	chr5:15689217-15689218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533488629	chr5:15689225-15689226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532773068	chr5:15689243-15689244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544870981	chr5:15689272-15689273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563183145	chr5:15689323-15689324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149300178	chr5:15689328-15689329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112860089	chr5:15689345-15689346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34526764	chr5:15689376-15689377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34173414	chr5:15689377-15689378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566780293	chr5:15689381-15689382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs397738016	chr5:15689392-15689393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76977164	chr5:15689394-15689395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527769613	chr5:15689404-15689405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552406383	chr5:15689408-15689409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10866514	chr5:15689507-15689508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs537654217	chr5:15689521-15689522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567166209	chr5:15689569-15689570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192116803	chr5:15689588-15689589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62347939	chr5:15689606-15689607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376868028	chr5:15689609-15689610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80354599	chr5:15689664-15689665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374060039	chr5:15689728-15689729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377579065	chr5:15689735-15689736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144470418	chr5:15689741-15689742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375120812	chr5:15689764-15689765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6892021	chr5:15689838-15689839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs371654699	chr5:15689865-15689866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545853109	chr5:15689956-15689957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557887679	chr5:15689976-15689977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562895783	chr5:15689983-15689984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577470914	chr5:15690035-15690036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544808420	chr5:15690071-15690072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533924867	chr5:15690081-15690082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75766298	chr5:15690147-15690148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185039908	chr5:15690169-15690170	Weak transcription Enhancers	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:629 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15675200-15693000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:15677000-15690800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:15682400-15690800	Weak transcription	Aorta	Aorta
4	chr5:15683600-15689000	Weak transcription	Left Ventricle	heart
5	chr5:15684000-15695200	Weak transcription	HUVEC	blood vessel
6	chr5:15684200-15689000	Weak transcription	Lung	lung
7	chr5:15684600-15691200	Weak transcription	Fetal Stomach	stomach
8	chr5:15684600-15694000	Weak transcription	Fetal Kidney	kidney
9	chr5:15684800-15693000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:15685000-15689400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:15685000-15690000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:15685000-15690000	Weak transcription	HSMMtube	muscle
13	chr5:15685000-15690200	Weak transcription	NHDF-Ad	bronchial
14	chr5:15686400-15690800	Weak transcription	Ovary	ovary
15	chr5:15686600-15690200	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:15686600-15694400	Weak transcription	Fetal Lung	lung
17	chr5:15687000-15689000	Enhancers	Brain Substantia Nigra	brain
18	chr5:15687600-15690800	Weak transcription	Right Ventricle	heart
19	chr5:15687800-15690800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:15687800-15690800	Weak transcription	Right Atrium	heart
21	chr5:15687800-15691000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:15687800-15691200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:15687800-15691200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:15687800-15691200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:15687800-15691400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:15687800-15694200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:15687800-15694200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:15688000-15690800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:15688000-15690800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:15688000-15690800	Weak transcription	Brain Anterior Caudate	brain
31	chr5:15688000-15694200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:15688200-15690800	Weak transcription	Brain Angular Gyrus	brain
33	chr5:15688200-15690800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:15688200-15691200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:15688400-15689000	Enhancers	Fetal Heart	heart
36	chr5:15688400-15704200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:15688600-15689200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:15688600-15690800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr5:15688800-15690600	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:15689000-15689200	Enhancers	Lung	lung
41	chr5:15689000-15689400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:15689000-15689400	Enhancers	Left Ventricle	heart
43	chr5:15689000-15690000	Weak transcription	Fetal Heart	heart
44	chr5:15689000-15690800	Weak transcription	Brain Substantia Nigra	brain
45	chr5:15689200-15690800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:15689200-15693000	Weak transcription	Lung	lung
47	chr5:15689400-15689600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr5:15689400-15690800	Weak transcription	Left Ventricle	heart
49	chr5:15689400-15691200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:15689600-15691000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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