Variant report

Variant	nsv823158
Chromosome Location	chr5:99912491-99960408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:99943979..99946598-chr5:99951467..99953484,2	K562	blood:
2	chr5:99948806..99952463-chr5:99954515..99956491,4	K562	blood:
3	chr5:99959582..99960217-chr5:100683267..100683815,2	MCF-7	breast:
4	chr5:99901928..99904752-chr5:99911773..99913756,2	MCF-7	breast:
5	chr5:99948806..99952463-chr5:99954515..99956491,4	K562	blood:
6	chr5:99943979..99946598-chr5:99951467..99953484,2	K562	blood:

Extended variants
information (count: 1150 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1150 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528337202	chr5:99912494-99912495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146684524	chr5:99912495-99912496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574374021	chr5:99912557-99912558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566215843	chr5:99912582-99912583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184372293	chr5:99912648-99912649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539824234	chr5:99912650-99912651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551771831	chr5:99912795-99912796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570080475	chr5:99912824-99912825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537701219	chr5:99912874-99912875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556027689	chr5:99913019-99913020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574148590	chr5:99913057-99913058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535261373	chr5:99913074-99913075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189097146	chr5:99913095-99913096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577344544	chr5:99913108-99913109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs32236	chr5:99913203-99913204	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs562908744	chr5:99913225-99913226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191673445	chr5:99913233-99913234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143738350	chr5:99913256-99913257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73774445	chr5:99913274-99913275	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540883564	chr5:99913306-99913307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184098265	chr5:99913337-99913338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189119206	chr5:99913367-99913368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368191840	chr5:99913463-99913464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546803710	chr5:99913485-99913486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112808729	chr5:99913494-99913495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565099333	chr5:99913520-99913521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111486613	chr5:99913561-99913562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551915296	chr5:99913620-99913621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180976755	chr5:99913655-99913656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537498519	chr5:99913702-99913703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549400748	chr5:99913716-99913717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78435686	chr5:99913721-99913722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545884350	chr5:99913741-99913742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141092060	chr5:99913775-99913776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553121075	chr5:99913832-99913833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571520171	chr5:99913839-99913840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150278786	chr5:99913857-99913858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139019385	chr5:99913892-99913893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185456842	chr5:99913906-99913907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542644087	chr5:99913940-99913941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142963111	chr5:99913948-99913949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147463726	chr5:99914005-99914006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540173551	chr5:99914014-99914015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57568619	chr5:99914023-99914024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73164285	chr5:99914147-99914148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6859625	chr5:99914166-99914167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs374773010	chr5:99914184-99914185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563811765	chr5:99914192-99914193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114593752	chr5:99914234-99914235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190659002	chr5:99914245-99914246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99872400-99931400	Weak transcription	Aorta	Aorta
2	chr5:99872600-99922800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:99872800-99916200	Weak transcription	Ovary	ovary
4	chr5:99873400-99916200	Weak transcription	Fetal Stomach	stomach
5	chr5:99873400-99930600	Weak transcription	NH-A	brain
6	chr5:99878400-99930600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:99886800-99930200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:99887200-99916200	Weak transcription	Lung	lung
9	chr5:99887200-99924600	Weak transcription	Fetal Thymus	thymus
10	chr5:99895400-99919800	Weak transcription	HSMMtube	muscle
11	chr5:99895800-99921000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:99895800-99931000	Weak transcription	Fetal Intestine Large	intestine
13	chr5:99896200-99916200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:99896200-99927600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:99896600-99933800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:99896800-99931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:99897000-99928800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:99897200-99923800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:99898000-99930800	Weak transcription	Dnd41	blood
20	chr5:99899000-99930000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:99899600-99923200	Weak transcription	Fetal Brain Female	brain
22	chr5:99899800-99915800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr5:99899800-99916400	Weak transcription	GM12878-XiMat	blood
24	chr5:99899800-99919800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:99899800-99931400	Weak transcription	Adipose Nuclei	Adipose
26	chr5:99900000-99915800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:99900000-99922600	Weak transcription	Liver	Liver
28	chr5:99900000-99927600	Weak transcription	Left Ventricle	heart
29	chr5:99900200-99916200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:99900200-99919600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr5:99900200-99922400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr5:99900200-99922600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:99901400-99919800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:99901400-99925800	Weak transcription	Right Ventricle	heart
35	chr5:99901600-99916000	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:99902200-99916000	Weak transcription	Primary T cells from cord blood	blood
37	chr5:99902800-99916000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:99902800-99922000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:99902800-99922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:99903600-99924600	Weak transcription	Fetal Lung	lung
41	chr5:99903800-99914200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr5:99904600-99922600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:99905800-99916200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:99905800-99931000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:99908200-99916400	Weak transcription	Fetal Intestine Small	intestine
46	chr5:99910600-99929600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:99910800-99922600	Weak transcription	HSMM	muscle
48	chr5:99910800-99926200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:99912000-99912600	Enhancers	Colon Smooth Muscle	Colon
50	chr5:99912200-99922600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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