Variant report

Variant	nsv1028089
Chromosome Location	chr5:15636285-15883910
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:23)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:15804197..15806125-chr5:15806935..15808758,2	K562	blood:
2	chr5:15105600..15106389-chr5:15824138..15824978,2	MCF-7	breast:
3	chr5:15691207..15693876-chr5:15698019..15699867,2	K562	blood:
4	chr5:15105969..15106817-chr5:15824201..15824721,2	MCF-7	breast:
5	chr5:15804197..15806125-chr5:15806935..15808758,2	K562	blood:
6	chr5:15719277..15719777-chr8:33370846..33371373,2	Hela-S3	cervix:
7	chr5:15683076..15684017-chr5:15995401..15996222,3	MCF-7	breast:
8	chr5:15383237..15384294-chr5:15793976..15794826,3	MCF-7	breast:
9	chr5:15691412..15693844-chr5:15721863..15723411,2	MCF-7	breast:
10	chr5:15463054..15463835-chr5:15793947..15794638,2	MCF-7	breast:
11	chr5:15463008..15463875-chr5:15824484..15825033,2	MCF-7	breast:
12	chr5:15747913..15750874-chr5:15750994..15753003,2	K562	blood:
13	chr5:15804150..15805697-chr5:15806057..15808758,2	K562	blood:
14	chr5:15691412..15693844-chr5:15721863..15723411,2	MCF-7	breast:
15	chr10:92847696..92848554-chr5:15847240..15848200,2	MCF-7	breast:
16	chr5:15463233..15463955-chr5:15824094..15824960,2	MCF-7	breast:
17	chr5:15804150..15805697-chr5:15806057..15808758,2	K562	blood:
18	chr5:15463040..15463892-chr5:15794004..15794911,3	MCF-7	breast:
19	chr4:147603707..147604442-chr5:15685536..15686251,2	MCF-7	breast:
20	chr5:15747913..15750874-chr5:15750994..15753003,2	K562	blood:
21	chr5:15105857..15106576-chr5:15791048..15791750,2	MCF-7	breast:
22	chr5:15691207..15693876-chr5:15698019..15699867,2	K562	blood:
23	chr3:137893053..137895018-chr5:15659439..15660939,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM105B-10	chr5:15675993-15677600	NONHSAT100586
2	lnc-FAM105B-11	chr5:15775820-15777145	NONHSAT100587

No data

Variant related genes	Relation type
ENSG00000239039	chromatin interactions
ENSG00000138231	chromatin interactions
ENSG00000129696	chromatin interactions

Extended variants
information (count: 9668 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:9668 , 50 per page) page: 1 2 3 4 5 6 7 ... 194

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192299050	chr5:15636288-15636289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547680559	chr5:15636374-15636375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556413889	chr5:15636384-15636385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6871889	chr5:15636388-15636389	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs542152780	chr5:15636418-15636419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560143117	chr5:15636470-15636471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572003767	chr5:15636508-15636509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539425845	chr5:15636512-15636513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545520787	chr5:15636539-15636540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564193036	chr5:15636568-15636569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112467528	chr5:15636616-15636617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557696364	chr5:15636621-15636622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187986968	chr5:15636679-15636680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562760044	chr5:15636691-15636692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193038481	chr5:15636759-15636760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201458756	chr5:15636790-15636791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541495244	chr5:15636791-15636792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35974559	chr5:15636804-15636805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548478172	chr5:15636817-15636818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567101432	chr5:15636834-15636835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572912023	chr5:15636876-15636877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6892081	chr5:15636890-15636891	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552314259	chr5:15636976-15636977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13165880	chr5:15636990-15636991	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs201823956	chr5:15637065-15637066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200280726	chr5:15637070-15637071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141601815	chr5:15637071-15637072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34970984	chr5:15637078-15637079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376796689	chr5:15637079-15637080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371412022	chr5:15637081-15637082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538356629	chr5:15637110-15637111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556351414	chr5:15637167-15637168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544431518	chr5:15637180-15637181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574685592	chr5:15637181-15637182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75828888	chr5:15637259-15637260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141952586	chr5:15637262-15637263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150630244	chr5:15637283-15637284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184502475	chr5:15637310-15637311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377643360	chr5:15637314-15637315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370416144	chr5:15637332-15637333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576055683	chr5:15637343-15637344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140078384	chr5:15637347-15637348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188974380	chr5:15637350-15637351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562699134	chr5:15637466-15637467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111328377	chr5:15637467-15637468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373617706	chr5:15637469-15637470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536671147	chr5:15637478-15637479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368886480	chr5:15637660-15637661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530231396	chr5:15637663-15637664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143583128	chr5:15637673-15637674	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:2492 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15600600-15645400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:15627600-15648000	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:15627800-15637000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:15631400-15645200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:15633600-15644600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:15633800-15637000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:15634000-15638000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:15634800-15636800	Enhancers	Fetal Heart	heart
9	chr5:15635400-15637800	Enhancers	Brain Cingulate Gyrus	brain
10	chr5:15635600-15636600	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:15635600-15637200	Weak transcription	Psoas Muscle	Psoas
12	chr5:15635600-15641000	Weak transcription	Ovary	ovary
13	chr5:15635600-15642600	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:15635600-15643800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:15635600-15646800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:15635800-15636400	Weak transcription	Osteobl	bone
17	chr5:15635800-15636800	Weak transcription	Brain Substantia Nigra	brain
18	chr5:15635800-15637600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:15635800-15638200	Weak transcription	Right Atrium	heart
20	chr5:15635800-15640200	Weak transcription	Right Ventricle	heart
21	chr5:15635800-15643600	Weak transcription	Aorta	Aorta
22	chr5:15635800-15645000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:15636000-15637000	Weak transcription	Brain Angular Gyrus	brain
24	chr5:15636000-15637400	Weak transcription	Brain Anterior Caudate	brain
25	chr5:15636000-15638000	Weak transcription	Left Ventricle	heart
26	chr5:15636000-15638200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:15636000-15639400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:15636000-15640600	Weak transcription	Fetal Stomach	stomach
29	chr5:15636000-15644800	Weak transcription	HSMM	muscle
30	chr5:15636200-15636600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:15636400-15636600	Enhancers	Osteobl	bone
32	chr5:15636600-15636800	Enhancers	Brain Hippocampus Middle	brain
33	chr5:15636600-15636800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:15636800-15637200	Weak transcription	Brain Hippocampus Middle	brain
35	chr5:15636800-15637400	Weak transcription	Fetal Heart	heart
36	chr5:15636800-15637800	Enhancers	Brain Substantia Nigra	brain
37	chr5:15636800-15638200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:15637000-15638200	Enhancers	Brain Angular Gyrus	brain
39	chr5:15637000-15639000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:15637000-15644800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:15637200-15638400	Enhancers	Brain Hippocampus Middle	brain
42	chr5:15637400-15638800	Enhancers	Brain Anterior Caudate	brain
43	chr5:15637400-15638800	Enhancers	Fetal Heart	heart
44	chr5:15637600-15638000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr5:15637600-15643600	Weak transcription	HUVEC	blood vessel
46	chr5:15637800-15638200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr5:15637800-15639600	Weak transcription	Brain Substantia Nigra	brain
48	chr5:15638000-15638800	Enhancers	Left Ventricle	heart
49	chr5:15638000-15639600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:15638200-15638400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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