Variant report

Variant	nsv521754
Chromosome Location	chr5:113507154-113515807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 365 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10519377	chr5:113507154-113507155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192183976	chr5:113507163-113507164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369228528	chr5:113507164-113507165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562105614	chr5:113507185-113507186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529290285	chr5:113507205-113507206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141427234	chr5:113507215-113507216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566206542	chr5:113507240-113507241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527981806	chr5:113507245-113507246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569357147	chr5:113507287-113507288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183211221	chr5:113507301-113507302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145139620	chr5:113507311-113507312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77320247	chr5:113507317-113507318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533872174	chr5:113507324-113507325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78883706	chr5:113507361-113507362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566949745	chr5:113507372-113507373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113317393	chr5:113507376-113507377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386404729	chr5:113507381-113507382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386404730	chr5:113507383-113507384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61254407	chr5:113507387-113507388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6871846	chr5:113507398-113507399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs555851349	chr5:113507430-113507431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76571680	chr5:113507442-113507443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116257786	chr5:113507559-113507560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117380001	chr5:113507587-113507588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188870617	chr5:113507637-113507638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17136340	chr5:113507644-113507645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs192599414	chr5:113507648-113507649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540963280	chr5:113507672-113507673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562347939	chr5:113507693-113507694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184295041	chr5:113507715-113507716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531968340	chr5:113507720-113507721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148816249	chr5:113507721-113507722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9326911	chr5:113507726-113507727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs207466337	chr5:113507744-113507745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77457321	chr5:113507755-113507756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189580857	chr5:113507758-113507759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551571466	chr5:113507785-113507786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74467826	chr5:113507809-113507810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58315203	chr5:113507843-113507844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143512051	chr5:113507904-113507905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571674309	chr5:113507944-113507945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567236720	chr5:113507953-113507954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113319093	chr5:113508015-113508016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112264909	chr5:113508027-113508028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112979744	chr5:113508037-113508038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111619435	chr5:113508107-113508108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184135374	chr5:113508111-113508112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571321168	chr5:113508120-113508121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549752713	chr5:113508188-113508189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571152823	chr5:113508205-113508206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113505600-113511800	Weak transcription	Fetal Heart	heart
2	chr5:113508800-113509200	ZNF genes & repeats	HUVEC	blood vessel
3	chr5:113509200-113510200	Weak transcription	HUVEC	blood vessel
4	chr5:113510000-113510800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:113510000-113512600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:113510000-113512800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:113510000-113514800	Weak transcription	Left Ventricle	heart
8	chr5:113510200-113512200	Enhancers	NH-A	brain
9	chr5:113510200-113512600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:113510200-113512600	Enhancers	NHEK	skin
11	chr5:113510200-113512800	Enhancers	HUVEC	blood vessel
12	chr5:113510400-113511000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:113510600-113512200	Enhancers	HMEC	breast
14	chr5:113510800-113514000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:113511000-113511400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:113511400-113512000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:113511400-113512600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:113511600-113512000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:113511800-113512200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr5:113511800-113512200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:113511800-113512400	Enhancers	Fetal Heart	heart
22	chr5:113511800-113512400	Enhancers	NHDF-Ad	bronchial
23	chr5:113512000-113512400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr5:113512000-113512800	Active TSS	A549	lung
25	chr5:113512000-113514000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:113512200-113512400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:113512400-113512800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:113512400-113513600	Weak transcription	Fetal Heart	heart
29	chr5:113512800-113513800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:113512800-113514200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:113513600-113515200	Enhancers	Fetal Heart	heart
32	chr5:113513800-113514400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:113514000-113514400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:113514000-113514600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:113514000-113515400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:113514200-113514600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:113514400-113514600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:113514800-113515200	Enhancers	Left Ventricle	heart
39	chr5:113515200-113519600	Weak transcription	Fetal Heart	heart
40	chr5:113515200-113521000	Weak transcription	Left Ventricle	heart

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