Variant report

Variant	nsv969926
Chromosome Location	chr5:97319859-97326887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567916984	chr5:97319891-97319892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11135548	chr5:97319897-97319898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11951659	chr5:97319919-97319920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs114933322	chr5:97319922-97319923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539172837	chr5:97319948-97319949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191792252	chr5:97319989-97319990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79413557	chr5:97320011-97320012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77269042	chr5:97320039-97320040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113015226	chr5:97320112-97320113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571186520	chr5:97320140-97320141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556050494	chr5:97320143-97320144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376276826	chr5:97320153-97320154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11955378	chr5:97320159-97320160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11952416	chr5:97320168-97320169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11949024	chr5:97320182-97320183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs545560442	chr5:97320216-97320217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533608736	chr5:97320217-97320218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184022238	chr5:97320307-97320308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11953184	chr5:97320314-97320315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568359486	chr5:97320389-97320390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529185178	chr5:97320392-97320393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186978739	chr5:97320393-97320394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565380731	chr5:97320408-97320409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116255931	chr5:97320420-97320421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535664264	chr5:97320425-97320426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144954701	chr5:97320446-97320447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149048160	chr5:97320454-97320455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537669518	chr5:97320457-97320458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555720999	chr5:97320465-97320466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549162766	chr5:97320481-97320482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574368630	chr5:97320508-97320509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34080298	chr5:97320522-97320523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545396551	chr5:97320523-97320524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115662398	chr5:97320558-97320559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555495872	chr5:97320581-97320582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62378331	chr5:97320584-97320585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386690333	chr5:97320645-97320646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115948381	chr5:97320648-97320649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191349947	chr5:97320674-97320675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143029016	chr5:97320675-97320676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542898813	chr5:97320688-97320689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184305703	chr5:97320711-97320712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543587887	chr5:97320738-97320739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561758726	chr5:97320745-97320746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200336553	chr5:97320759-97320760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376663460	chr5:97320760-97320761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147770483	chr5:97320764-97320765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141482012	chr5:97320812-97320813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557084090	chr5:97320833-97320834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187044928	chr5:97320844-97320845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	21611746	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97310600-97321800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:97314800-97321400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:97316200-97321600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:97321400-97321800	Enhancers	Osteobl	bone
5	chr5:97321400-97322400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:97321400-97322400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:97321400-97322600	Enhancers	NHDF-Ad	bronchial
8	chr5:97321600-97321800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:97321600-97321800	Enhancers	NH-A	brain
10	chr5:97321800-97322000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:97321800-97322200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:97321800-97322200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:97321800-97322200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:97321800-97322200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:97321800-97322200	Enhancers	HSMM	muscle
16	chr5:97321800-97322200	Flanking Active TSS	NH-A	brain
17	chr5:97321800-97322200	Flanking Active TSS	Osteobl	bone
18	chr5:97322000-97322200	Enhancers	NHLF	lung
19	chr5:97322200-97322400	Enhancers	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links