Variant report

Variant	nsv1031483
Chromosome Location	chr5:15738485-15926083
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:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:15105600..15106389-chr5:15824138..15824978,2	MCF-7	breast:
2	chr10:92847696..92848554-chr5:15847240..15848200,2	MCF-7	breast:
3	chr5:15383237..15384294-chr5:15793976..15794826,3	MCF-7	breast:
4	chr5:15105857..15106576-chr5:15791048..15791750,2	MCF-7	breast:
5	chr5:15804150..15805697-chr5:15806057..15808758,2	K562	blood:
6	chr5:15463054..15463835-chr5:15793947..15794638,2	MCF-7	breast:
7	chr5:15804150..15805697-chr5:15806057..15808758,2	K562	blood:
8	chr5:15463040..15463892-chr5:15794004..15794911,3	MCF-7	breast:
9	chr5:15463233..15463955-chr5:15824094..15824960,2	MCF-7	breast:
10	chr5:15105969..15106817-chr5:15824201..15824721,2	MCF-7	breast:
11	chr5:15804197..15806125-chr5:15806935..15808758,2	K562	blood:
12	chr5:15747913..15750874-chr5:15750994..15753003,2	K562	blood:
13	chr5:15747913..15750874-chr5:15750994..15753003,2	K562	blood:
14	chr5:15463008..15463875-chr5:15824484..15825033,2	MCF-7	breast:
15	chr5:15804197..15806125-chr5:15806935..15808758,2	K562	blood:
16	chr5:15898065..15900379-chr5:16172599..16174745,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM105B-11	chr5:15775820-15777145	NONHSAT100587

No data

Extended variants
information (count: 7163 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:7163 , 50 per page) page: 1 2 3 4 5 6 7 ... 144

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563281732	chr5:15738491-15738492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371445906	chr5:15738500-15738501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530383630	chr5:15738542-15738543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374428659	chr5:15738573-15738574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113063407	chr5:15738675-15738676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528188452	chr5:15738690-15738691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549548343	chr5:15738722-15738723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111826997	chr5:15738733-15738734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566119049	chr5:15738754-15738755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191486583	chr5:15738795-15738796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567801968	chr5:15738812-15738813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368317588	chr5:15738834-15738835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538324244	chr5:15738890-15738891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552093287	chr5:15738929-15738930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4318779	chr5:15738930-15738931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537397723	chr5:15738932-15738933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148875784	chr5:15739029-15739030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4590179	chr5:15739051-15739052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs16867647	chr5:15739067-15739068	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs145496560	chr5:15739124-15739125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577750311	chr5:15739163-15739164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544810735	chr5:15739249-15739250	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563194782	chr5:15739256-15739257	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs575185912	chr5:15739284-15739285	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs137927425	chr5:15739295-15739296	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs538998797	chr5:15739300-15739301	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560705375	chr5:15739314-15739315	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs528117237	chr5:15739343-15739344	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs376936597	chr5:15739344-15739345	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs554217651	chr5:15739354-15739355	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs569007271	chr5:15739366-15739367	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs142427806	chr5:15739396-15739397	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs565032135	chr5:15739402-15739403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371501010	chr5:15739444-15739445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183259748	chr5:15739449-15739450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs80095958	chr5:15739451-15739452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377503049	chr5:15739454-15739455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368833591	chr5:15739515-15739516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537758449	chr5:15739516-15739517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144690886	chr5:15739566-15739567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567533801	chr5:15739601-15739602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200048993	chr5:15739604-15739605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386685785	chr5:15739611-15739612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564641792	chr5:15739622-15739623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4484432	chr5:15739776-15739777	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs4312881	chr5:15739807-15739808	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs35716424	chr5:15739862-15739863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538416650	chr5:15739923-15739924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530111293	chr5:15739973-15739974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375489831	chr5:15739974-15739975	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:1603 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15731200-15746000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:15732000-15745800	Weak transcription	Right Atrium	heart
3	chr5:15734600-15738800	Weak transcription	Left Ventricle	heart
4	chr5:15734600-15739200	Weak transcription	Lung	lung
5	chr5:15736800-15739400	Enhancers	Right Ventricle	heart
6	chr5:15737000-15738600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:15737000-15738800	Enhancers	Colon Smooth Muscle	Colon
8	chr5:15737000-15738800	Enhancers	NHLF	lung
9	chr5:15737000-15739000	Enhancers	Brain Hippocampus Middle	brain
10	chr5:15737000-15739200	Enhancers	Brain Substantia Nigra	brain
11	chr5:15737000-15739200	Enhancers	Fetal Lung	lung
12	chr5:15737200-15738600	Enhancers	Fetal Stomach	stomach
13	chr5:15737200-15740600	Enhancers	Fetal Brain Male	brain
14	chr5:15737200-15742000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:15737600-15739000	Enhancers	Brain Angular Gyrus	brain
16	chr5:15737600-15739400	Enhancers	Fetal Brain Female	brain
17	chr5:15737600-15739600	Enhancers	Fetal Heart	heart
18	chr5:15737800-15738600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr5:15737800-15738800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:15737800-15738800	Enhancers	Aorta	Aorta
21	chr5:15738000-15739200	Enhancers	Brain Cingulate Gyrus	brain
22	chr5:15738000-15739400	Enhancers	Ovary	ovary
23	chr5:15738000-15743000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:15738200-15740200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:15738200-15742000	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:15738400-15738600	Enhancers	NHDF-Ad	bronchial
27	chr5:15738400-15739000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:15738400-15752800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:15738600-15740200	Weak transcription	Fetal Stomach	stomach
30	chr5:15738600-15743600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:15738800-15739400	Enhancers	Left Ventricle	heart
32	chr5:15738800-15740200	Weak transcription	Aorta	Aorta
33	chr5:15738800-15740400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:15738800-15740400	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:15738800-15740400	Weak transcription	NHLF	lung
36	chr5:15739200-15739400	Enhancers	Esophagus	oesophagus
37	chr5:15739200-15739400	ZNF genes & repeats	Lung	lung
38	chr5:15739200-15753000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:15739400-15740600	Weak transcription	Fetal Brain Female	brain
40	chr5:15739400-15742000	Weak transcription	Left Ventricle	heart
41	chr5:15739400-15743000	Weak transcription	Lung	lung
42	chr5:15739400-15749800	Weak transcription	Right Ventricle	heart
43	chr5:15739600-15740800	Weak transcription	Fetal Heart	heart
44	chr5:15740200-15740600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:15740200-15740600	Enhancers	Aorta	Aorta
46	chr5:15740200-15740600	Enhancers	Fetal Stomach	stomach
47	chr5:15740200-15741800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:15740400-15740800	Enhancers	Colon Smooth Muscle	Colon
49	chr5:15740400-15741000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr5:15740400-15741000	Enhancers	NHLF	lung

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