Variant report

Variant	nsv968849
Chromosome Location	chr5:112082896-112083905
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	chr5:112078508..112080927-chr5:112081465..112083694,2	MCF-7	breast:
2	chr5:112080239..112082396-chr5:112082414..112084260,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79345778	chr5:112082938-112082939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs397792774	chr5:112082944-112082945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2112210	chr5:112082945-112082946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3980206	chr5:112082948-112082949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78383074	chr5:112082949-112082950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185554385	chr5:112082972-112082973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529049251	chr5:112082998-112082999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550466921	chr5:112083014-112083015	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568772252	chr5:112083084-112083085	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144269221	chr5:112083113-112083114	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189187930	chr5:112083223-112083224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181550957	chr5:112083246-112083247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534793571	chr5:112083261-112083262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551364910	chr5:112083276-112083277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553398645	chr5:112083293-112083294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574957585	chr5:112083295-112083296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77383928	chr5:112083304-112083305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372392739	chr5:112083305-112083306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557695638	chr5:112083306-112083307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575999434	chr5:112083326-112083327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545862192	chr5:112083337-112083338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147374195	chr5:112083340-112083341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184403927	chr5:112083351-112083352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539965842	chr5:112083369-112083370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79917821	chr5:112083417-112083418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145233216	chr5:112083430-112083431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114907013	chr5:112083458-112083459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73216300	chr5:112083541-112083542	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs116084649	chr5:112083559-112083560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188768054	chr5:112083653-112083654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181100652	chr5:112083667-112083668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534990808	chr5:112083683-112083684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546779907	chr5:112083706-112083707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568500655	chr5:112083744-112083745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186124599	chr5:112083769-112083770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114522489	chr5:112083805-112083806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576033672	chr5:112083828-112083829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113525128	chr5:112083845-112083846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558393354	chr5:112083847-112083848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572769869	chr5:112083848-112083849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527677474	chr5:112083861-112083862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561674511	chr5:112083902-112083903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	21518781	CNVD
Prostate cancer	22341455	CNVD
Lung cancer	20668451	CNVD
adenomatous polyposis	20649969	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	22014273	CNVD
Colorectal cancer	23471846	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112073800-112086800	Weak transcription	Gastric	stomach
2	chr5:112074000-112095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:112074200-112083800	Weak transcription	Ovary	ovary
4	chr5:112074200-112084400	Weak transcription	Pancreas	Pancrea
5	chr5:112074200-112093200	Weak transcription	Aorta	Aorta
6	chr5:112074400-112083800	Weak transcription	Psoas Muscle	Psoas
7	chr5:112074400-112083800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:112074400-112090400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:112074400-112090400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr5:112074400-112091000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:112074400-112093200	Weak transcription	Right Ventricle	heart
12	chr5:112074400-112094000	Weak transcription	Fetal Intestine Small	intestine
13	chr5:112074400-112095200	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:112074400-112095600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:112074400-112095600	Weak transcription	Fetal Thymus	thymus
16	chr5:112074400-112095800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:112074400-112102800	Weak transcription	Fetal Stomach	stomach
18	chr5:112074400-112103400	Weak transcription	Left Ventricle	heart
19	chr5:112074400-112119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:112074400-112125600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:112074400-112128600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:112074600-112090400	Weak transcription	Primary B cells from cord blood	blood
23	chr5:112074600-112103000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:112074800-112097600	Weak transcription	HMEC	breast
25	chr5:112075000-112093000	Weak transcription	Liver	Liver
26	chr5:112075000-112095200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:112075200-112092600	Weak transcription	HSMM	muscle
28	chr5:112075200-112094400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:112075200-112103000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:112075400-112091000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr5:112075400-112097400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:112075400-112101600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:112075600-112095600	Weak transcription	Dnd41	blood
34	chr5:112075600-112095800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:112076000-112090800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr5:112076000-112095400	Weak transcription	NH-A	brain
37	chr5:112076200-112097000	Weak transcription	NHLF	lung
38	chr5:112078000-112095800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:112078400-112091200	Weak transcription	Primary T cells from cord blood	blood
40	chr5:112078600-112093000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:112078600-112095800	Weak transcription	GM12878-XiMat	blood
42	chr5:112078800-112083200	Weak transcription	Brain Germinal Matrix	brain
43	chr5:112078800-112092000	Weak transcription	Fetal Brain Male	brain
44	chr5:112078800-112097200	Weak transcription	NHDF-Ad	bronchial
45	chr5:112079000-112090600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:112079600-112086000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:112079600-112128200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:112079800-112095600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr5:112079800-112128600	Weak transcription	Small Intestine	intestine
50	chr5:112080000-112084600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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