Variant report

Variant	nsv517277
Chromosome Location	chr5:106653325-106660530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:106651143..106654044-chr5:106655723..106658073,2	K562	blood:
2	chr5:106651143..106654044-chr5:106655723..106658073,2	K562	blood:

Extended variants
information (count: 285 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs252691	chr5:106653325-106653326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553420098	chr5:106653349-106653350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573234846	chr5:106653382-106653383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188532150	chr5:106653384-106653385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193132461	chr5:106653405-106653406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575838608	chr5:106653433-106653434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7711216	chr5:106653491-106653492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141032351	chr5:106653503-106653504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201733085	chr5:106653716-106653717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565693034	chr5:106653717-106653718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199826217	chr5:106653720-106653721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574214168	chr5:106653727-106653728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183998736	chr5:106653777-106653778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376903949	chr5:106653805-106653806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187694162	chr5:106653816-106653817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531932395	chr5:106653871-106653872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551749814	chr5:106653907-106653908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562838354	chr5:106653996-106653997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531488777	chr5:106654000-106654001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560684335	chr5:106654016-106654017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548387965	chr5:106654022-106654023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568128400	chr5:106654029-106654030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114660423	chr5:106654075-106654076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116381199	chr5:106654104-106654105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370556234	chr5:106654113-106654114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373120610	chr5:106654132-106654133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566968879	chr5:106654147-106654148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539075005	chr5:106654167-106654168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191330860	chr5:106654172-106654173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183534055	chr5:106654247-106654248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57801723	chr5:106654316-106654317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs373032432	chr5:106654328-106654329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555158402	chr5:106654337-106654338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144968137	chr5:106654372-106654373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74571533	chr5:106654399-106654400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549705038	chr5:106654431-106654432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368597848	chr5:106654435-106654436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569192369	chr5:106654437-106654438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576516890	chr5:106654448-106654449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6876248	chr5:106654459-106654460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6877465	chr5:106654466-106654467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373297880	chr5:106654486-106654487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150226285	chr5:106654487-106654488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200723689	chr5:106654508-106654509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545814223	chr5:106654509-106654510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10691656	chr5:106654510-106654511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200910573	chr5:106654511-106654512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201843786	chr5:106654512-106654513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6898383	chr5:106654514-106654515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201211855	chr5:106654516-106654517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	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
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106650400-106656000	Weak transcription	Fetal Stomach	stomach
2	chr5:106652400-106655600	Weak transcription	Fetal Lung	lung
3	chr5:106655600-106655800	Enhancers	Fetal Lung	lung
4	chr5:106655600-106656200	Enhancers	NHDF-Ad	bronchial
5	chr5:106655600-106662200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:106655800-106656200	Flanking Active TSS	Fetal Lung	lung
7	chr5:106656000-106656600	Enhancers	Fetal Stomach	stomach
8	chr5:106656000-106656800	Enhancers	HUVEC	blood vessel
9	chr5:106656200-106658000	Weak transcription	NHDF-Ad	bronchial
10	chr5:106656200-106659200	Enhancers	Fetal Lung	lung
11	chr5:106656600-106663200	Weak transcription	Fetal Stomach	stomach
12	chr5:106656800-106657000	Flanking Active TSS	HUVEC	blood vessel
13	chr5:106657000-106657400	Enhancers	HUVEC	blood vessel
14	chr5:106657000-106658200	Enhancers	NHEK	skin
15	chr5:106657200-106658000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:106657400-106657600	Flanking Active TSS	HUVEC	blood vessel
17	chr5:106657600-106657800	Enhancers	HUVEC	blood vessel
18	chr5:106657600-106658200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:106657600-106661600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:106657800-106658000	Flanking Active TSS	HUVEC	blood vessel
21	chr5:106658000-106658200	Enhancers	NHDF-Ad	bronchial
22	chr5:106658000-106659000	Enhancers	HUVEC	blood vessel
23	chr5:106658000-106659800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:106658200-106659200	Weak transcription	NHEK	skin
25	chr5:106658200-106659400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:106659200-106659600	Weak transcription	Fetal Lung	lung
27	chr5:106659200-106659800	Enhancers	NHEK	skin
28	chr5:106659400-106660000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:106659600-106661000	Enhancers	Fetal Lung	lung
30	chr5:106659800-106660200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:106659800-106660200	Enhancers	Brain Germinal Matrix	brain
32	chr5:106659800-106660400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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