Variant report

Variant	nsv461983
Chromosome Location	chr5:15674635-15720106
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

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	chr4:147603707..147604442-chr5:15685536..15686251,2	MCF-7	breast:
4	chr5:15691207..15693876-chr5:15698019..15699867,2	K562	blood:
5	chr5:15691207..15693876-chr5:15698019..15699867,2	K562	blood:
6	chr5:15683076..15684017-chr5:15995401..15996222,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM105B-10	chr5:15675993-15677600	NONHSAT100586

No data

Variant related genes	Relation type
ENSG00000239039	chromatin interactions
ENSG00000129696	chromatin interactions

Extended variants
information (count: 1755 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1755 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12652447	chr5:15674635-15674636	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139386190	chr5:15674688-15674689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545820557	chr5:15674802-15674803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575578083	chr5:15674831-15674832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543093763	chr5:15674849-15674850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs57410835	chr5:15674850-15674851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73058362	chr5:15674871-15674872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546825545	chr5:15674887-15674888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565115620	chr5:15674939-15674940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184484280	chr5:15674970-15674971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550626928	chr5:15674978-15674979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568816284	chr5:15675013-15675014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535883581	chr5:15675020-15675021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144134041	chr5:15675046-15675047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566449871	chr5:15675080-15675081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530538296	chr5:15675085-15675086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189354427	chr5:15675098-15675099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553145465	chr5:15675112-15675113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577863004	chr5:15675125-15675126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145106110	chr5:15675141-15675142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543812954	chr5:15675183-15675184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575560955	chr5:15675258-15675259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542657065	chr5:15675277-15675278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149074563	chr5:15675292-15675293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142166470	chr5:15675301-15675302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565048106	chr5:15675365-15675366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369616210	chr5:15675374-15675375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532379420	chr5:15675414-15675415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7444748	chr5:15675431-15675432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550815061	chr5:15675433-15675434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373993594	chr5:15675470-15675471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562660554	chr5:15675540-15675541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192681239	chr5:15675609-15675610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114528465	chr5:15675682-15675683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79000620	chr5:15675683-15675684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78368988	chr5:15675704-15675705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184902979	chr5:15675738-15675739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548117515	chr5:15675743-15675744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533642130	chr5:15675767-15675768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369187365	chr5:15675784-15675785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551881811	chr5:15675785-15675786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11956557	chr5:15675824-15675825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538875678	chr5:15675827-15675828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17601883	chr5:15675883-15675884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564007369	chr5:15675903-15675904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11953541	chr5:15675916-15675917	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563412925	chr5:15675928-15675929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368478968	chr5:15675957-15675958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554661544	chr5:15675966-15675967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13185593	chr5:15675978-15675979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:786 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15665200-15680800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:15667800-15676000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:15668400-15679000	Weak transcription	Brain Anterior Caudate	brain
4	chr5:15670200-15676000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:15670400-15683200	Weak transcription	HUVEC	blood vessel
6	chr5:15671600-15675400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:15671600-15676800	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:15672200-15684400	Weak transcription	NHDF-Ad	bronchial
9	chr5:15673400-15676200	Enhancers	Fetal Heart	heart
10	chr5:15674000-15675200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:15674000-15675200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:15674000-15675400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:15674000-15675800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:15674000-15677000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:15674200-15675200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:15674200-15675800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr5:15674200-15677600	Enhancers	Ovary	ovary
18	chr5:15674200-15680000	Enhancers	Fetal Lung	lung
19	chr5:15674400-15675000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:15674400-15675800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:15674400-15684200	Weak transcription	HSMMtube	muscle
22	chr5:15674600-15675200	Enhancers	Fetal Stomach	stomach
23	chr5:15674600-15677200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:15674800-15675400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:15674800-15676000	Enhancers	Brain Angular Gyrus	brain
26	chr5:15675000-15675200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:15675000-15675600	Enhancers	Brain Hippocampus Middle	brain
28	chr5:15675000-15675800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:15675000-15675800	Enhancers	Brain Substantia Nigra	brain
30	chr5:15675000-15676200	Enhancers	Aorta	Aorta
31	chr5:15675000-15677000	Enhancers	Fetal Kidney	kidney
32	chr5:15675000-15677000	Enhancers	Left Ventricle	heart
33	chr5:15675000-15677200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr5:15675000-15680400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:15675200-15676000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:15675200-15676200	Weak transcription	Fetal Stomach	stomach
37	chr5:15675200-15679400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:15675200-15687000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:15675200-15693000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:15675400-15675600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:15675400-15675800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:15675600-15675800	Enhancers	Rectal Smooth Muscle	rectum
43	chr5:15675600-15677000	Enhancers	Right Atrium	heart
44	chr5:15675600-15678200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:15675800-15676600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr5:15675800-15679400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:15675800-15679400	Weak transcription	Brain Substantia Nigra	brain
48	chr5:15675800-15686200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr5:15676000-15676200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr5:15676000-15677000	Enhancers	HUES64 Cell Line	embryonic stem cell

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