Variant report

Variant	nsv882410
Chromosome Location	chr5:97764522-97810693
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1714 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1714 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7715564	chr5:97764522-97764523	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143030722	chr5:97764566-97764567	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs559684048	chr5:97764599-97764600	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs533290975	chr5:97764615-97764616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545053002	chr5:97764669-97764670	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs371415510	chr5:97764709-97764710	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs373445546	chr5:97764712-97764713	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs79571249	chr5:97764715-97764716	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs562893137	chr5:97764749-97764750	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs531842056	chr5:97764774-97764775	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs76608328	chr5:97764787-97764788	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs187673136	chr5:97764793-97764794	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs17165952	chr5:97764867-97764868	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547115082	chr5:97764883-97764884	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs565673421	chr5:97764934-97764935	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs370209738	chr5:97764954-97764955	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs539544616	chr5:97764955-97764956	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs557848912	chr5:97765115-97765116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568160701	chr5:97765134-97765135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374843036	chr5:97765141-97765142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149898777	chr5:97765167-97765168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537221523	chr5:97765183-97765184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527656270	chr5:97765264-97765265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547319843	chr5:97765296-97765297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192124979	chr5:97765339-97765340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185593895	chr5:97765348-97765349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142010162	chr5:97765362-97765363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548047017	chr5:97765373-97765374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539309747	chr5:97765412-97765413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190454099	chr5:97765516-97765517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200339633	chr5:97765517-97765518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556335493	chr5:97765523-97765524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180962161	chr5:97765543-97765544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563411708	chr5:97765593-97765594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569743584	chr5:97765615-97765616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530889190	chr5:97765747-97765748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577619765	chr5:97765763-97765764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535591938	chr5:97765765-97765766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543284644	chr5:97765798-97765799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144917751	chr5:97765809-97765810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10043462	chr5:97765856-97765857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs370520927	chr5:97765880-97765881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547625911	chr5:97765999-97766000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565691804	chr5:97766010-97766011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532924365	chr5:97766026-97766027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs36100259	chr5:97766048-97766049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77058866	chr5:97766049-97766050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397799170	chr5:97766058-97766059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17165953	chr5:97766170-97766171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs184326360	chr5:97766182-97766183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97761400-97767800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97761800-97764800	Weak transcription	HSMMtube	muscle
3	chr5:97762000-97764800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:97762200-97767000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:97762400-97766600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:97762600-97764600	Weak transcription	Fetal Stomach	stomach
7	chr5:97763200-97765200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:97763400-97765000	Enhancers	NHLF	lung
9	chr5:97763400-97765200	Enhancers	HSMM	muscle
10	chr5:97763400-97767800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:97763800-97764600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:97763800-97764800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:97763800-97764800	Enhancers	Small Intestine	intestine
14	chr5:97763800-97765000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:97763800-97765200	Enhancers	Stomach Smooth Muscle	stomach
16	chr5:97764200-97765200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:97764400-97764600	Flanking Active TSS	NHDF-Ad	bronchial
18	chr5:97764400-97764800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr5:97764400-97764800	Enhancers	Duodenum Mucosa	Duodenum
20	chr5:97764400-97764800	Enhancers	Fetal Lung	lung
21	chr5:97764400-97764800	Enhancers	GM12878-XiMat	blood
22	chr5:97764400-97765000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:97764400-97765000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:97764400-97765000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:97764400-97765000	Enhancers	Adipose Nuclei	Adipose
26	chr5:97764400-97765000	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr5:97764400-97765000	Enhancers	Dnd41	blood
28	chr5:97764400-97765200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:97764400-97765200	Enhancers	HMEC	breast
30	chr5:97764400-97765200	Enhancers	Osteobl	bone
31	chr5:97764600-97764800	Enhancers	Fetal Muscle Leg	muscle
32	chr5:97764600-97764800	Enhancers	NHDF-Ad	bronchial
33	chr5:97764600-97765000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr5:97764600-97765000	Enhancers	Fetal Stomach	stomach
35	chr5:97764600-97765000	Enhancers	HUVEC	blood vessel
36	chr5:97764800-97765000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:97764800-97765000	Flanking Active TSS	NHDF-Ad	bronchial
38	chr5:97764800-97765200	Enhancers	HSMMtube	muscle
39	chr5:97765000-97765200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:97765000-97765200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr5:97765000-97765200	Enhancers	NHDF-Ad	bronchial
42	chr5:97765000-97765400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:97765000-97767800	Weak transcription	Fetal Stomach	stomach
44	chr5:97765000-97768000	Weak transcription	NHLF	lung
45	chr5:97765000-97768800	Weak transcription	Adipose Nuclei	Adipose
46	chr5:97765000-97770200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:97765000-97780200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:97765200-97768000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:97765200-97768000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:97765200-97768000	Weak transcription	Stomach Smooth Muscle	stomach

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