Variant report

Variant	nsv933219
Chromosome Location	chr5:60199178-60199608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60180292..60182864-chr5:60197652..60199480,2	MCF-7	breast:
2	chr5:60198217..60200090-chr5:60210725..60213432,2	K562	blood:
3	chr5:60199382..60201400-chr5:60201974..60203709,2	MCF-7	breast:
4	chr5:60197378..60199717-chr5:60210725..60212735,2	K562	blood:

Variant related genes	Relation type
ENSG00000049167	chromatin interactions
ENSG00000233847	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1038144	chr5:60199201-60199202	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557578028	chr5:60199206-60199207	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545565172	chr5:60199217-60199218	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577778078	chr5:60199228-60199229	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138212997	chr5:60199332-60199333	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142139247	chr5:60199348-60199349	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4647102	chr5:60199363-60199364	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs542550501	chr5:60199383-60199384	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs191031496	chr5:60199393-60199394	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs182401243	chr5:60199402-60199403	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs368308377	chr5:60199405-60199406	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs372370196	chr5:60199414-60199415	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369365521	chr5:60199433-60199434	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs372826255	chr5:60199452-60199453	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201833381	chr5:60199453-60199454	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565247324	chr5:60199466-60199467	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs527752850	chr5:60199474-60199475	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs140185830	chr5:60199479-60199480	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs201840328	chr5:60199492-60199493	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs145610983	chr5:60199516-60199517	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs35366433	chr5:60199521-60199522	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs201126529	chr5:60199560-60199561	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs377155839	chr5:60199573-60199574	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60167800-60228200	Weak transcription	Psoas Muscle	Psoas
2	chr5:60175800-60239400	Weak transcription	NHEK	skin
3	chr5:60176400-60220400	Weak transcription	Esophagus	oesophagus
4	chr5:60177200-60239600	Weak transcription	HSMMtube	muscle
5	chr5:60177400-60232800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:60177600-60213000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:60178000-60214200	Weak transcription	Fetal Kidney	kidney
8	chr5:60181000-60218800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:60181600-60230800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:60181800-60211000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:60182000-60213000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:60182400-60212200	Weak transcription	NHDF-Ad	bronchial
13	chr5:60183400-60213800	Weak transcription	GM12878-XiMat	blood
14	chr5:60183400-60228000	Weak transcription	Small Intestine	intestine
15	chr5:60185600-60221200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:60186200-60212800	Weak transcription	Placenta	Placenta
17	chr5:60187400-60212000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:60187400-60212600	Weak transcription	HepG2	liver
19	chr5:60187600-60223800	Weak transcription	HUVEC	blood vessel
20	chr5:60187600-60239600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr5:60187800-60199800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:60187800-60239600	Weak transcription	Brain Angular Gyrus	brain
23	chr5:60188000-60200800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr5:60188000-60216200	Weak transcription	Hela-S3	cervix
25	chr5:60188000-60223400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr5:60188200-60200000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:60188200-60201200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:60188200-60201600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:60188600-60215600	Weak transcription	Fetal Heart	heart
30	chr5:60189000-60201000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:60189400-60199400	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:60189400-60199600	Weak transcription	Brain Substantia Nigra	brain
33	chr5:60189400-60240000	Weak transcription	Spleen	Spleen
34	chr5:60189600-60199200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:60189600-60199600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:60189600-60201400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr5:60189600-60211400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:60189600-60211400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr5:60189600-60213800	Weak transcription	Aorta	Aorta
40	chr5:60189600-60217200	Weak transcription	A549	lung
41	chr5:60189600-60224000	Weak transcription	Osteobl	bone
42	chr5:60189600-60239600	Weak transcription	Right Ventricle	heart
43	chr5:60189600-60240000	Weak transcription	Pancreas	Pancrea
44	chr5:60189800-60213000	Weak transcription	Fetal Brain Male	brain
45	chr5:60189800-60223600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr5:60189800-60225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:60189800-60225800	Weak transcription	Fetal Brain Female	brain
48	chr5:60190200-60224000	Weak transcription	Brain Germinal Matrix	brain
49	chr5:60191000-60227200	Weak transcription	Fetal Intestine Small	intestine
50	chr5:60191000-60232800	Weak transcription	Fetal Stomach	stomach

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