Variant report

Variant	nsv968854
Chromosome Location	chr5:118199325-118205314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 237 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564834246	chr5:118199331-118199332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146461253	chr5:118199352-118199353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555672311	chr5:118199354-118199355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575497257	chr5:118199362-118199363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544421625	chr5:118199375-118199376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190944113	chr5:118199396-118199397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577674333	chr5:118199403-118199404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184034614	chr5:118199408-118199409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560174080	chr5:118199415-118199416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528917365	chr5:118199420-118199421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187465010	chr5:118199427-118199428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527274006	chr5:118199437-118199438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373832442	chr5:118199440-118199441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148973020	chr5:118199504-118199505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368411348	chr5:118199539-118199540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551611623	chr5:118199567-118199568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564974338	chr5:118199581-118199582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570348201	chr5:118199600-118199601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191466665	chr5:118199684-118199685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576345099	chr5:118199704-118199705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114860196	chr5:118199718-118199719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6878699	chr5:118199775-118199776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181444053	chr5:118199789-118199790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183713357	chr5:118199791-118199792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535471710	chr5:118199801-118199802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548935961	chr5:118199873-118199874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569209667	chr5:118199885-118199886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538105552	chr5:118199951-118199952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558416225	chr5:118199967-118199968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143770121	chr5:118199993-118199994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543567972	chr5:118200081-118200082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534391863	chr5:118200120-118200121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371885234	chr5:118200189-118200190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6861908	chr5:118200219-118200220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs75698902	chr5:118200221-118200222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13171240	chr5:118200238-118200239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547117004	chr5:118200254-118200255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573752464	chr5:118200281-118200282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542649155	chr5:118200285-118200286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148477762	chr5:118200337-118200338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76755263	chr5:118200346-118200347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557688853	chr5:118200355-118200356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567536289	chr5:118200374-118200375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141097744	chr5:118200382-118200383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565350517	chr5:118200387-118200388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576097505	chr5:118200426-118200427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545368506	chr5:118200435-118200436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6862297	chr5:118200452-118200453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527528022	chr5:118200523-118200524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547533736	chr5:118200586-118200587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
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	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118169600-118208600	Weak transcription	Aorta	Aorta
2	chr5:118189400-118209400	Weak transcription	Primary T cells from cord blood	blood
3	chr5:118189600-118205400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:118189600-118210600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:118190600-118209000	Weak transcription	Left Ventricle	heart
6	chr5:118190800-118210000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:118193600-118205600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:118193800-118209200	Weak transcription	Pancreas	Pancrea
9	chr5:118194000-118210200	Weak transcription	Primary B cells from cord blood	blood
10	chr5:118194800-118208200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:118196000-118210800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:118196200-118201600	Weak transcription	Esophagus	oesophagus
13	chr5:118196800-118202600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:118196800-118210600	Weak transcription	Liver	Liver
15	chr5:118197000-118199800	Enhancers	HMEC	breast
16	chr5:118197600-118199600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:118197600-118199600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:118197600-118199800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:118197600-118199800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:118197600-118199800	Enhancers	NHEK	skin
21	chr5:118197800-118199600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:118197800-118205600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:118198200-118199400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:118198200-118199800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:118198400-118199600	Enhancers	Osteobl	bone
26	chr5:118198600-118199600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:118198600-118199800	Enhancers	NHLF	lung
28	chr5:118199200-118199400	Enhancers	NHDF-Ad	bronchial
29	chr5:118199400-118203000	Weak transcription	NHDF-Ad	bronchial
30	chr5:118199800-118200800	Weak transcription	NHLF	lung
31	chr5:118200800-118201000	Enhancers	NHLF	lung
32	chr5:118201600-118201800	Active TSS	Esophagus	oesophagus
33	chr5:118202600-118202800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:118203000-118203200	Enhancers	NHDF-Ad	bronchial
35	chr5:118205000-118205800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:118205000-118206000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr5:118205200-118205800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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