Variant report

Variant	nsv10711
Chromosome Location	chr5:80026488-80028067
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	chr5:80024092..80025957-chr5:80026900..80028774,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17206221	chr5:80026519-80026520	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147462350	chr5:80026533-80026534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552539773	chr5:80026634-80026635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35595321	chr5:80026696-80026697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199809813	chr5:80026711-80026712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142868582	chr5:80026712-80026713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199648297	chr5:80026713-80026714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377452691	chr5:80026714-80026715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62886360	chr5:80026715-80026716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371281527	chr5:80026717-80026718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538352925	chr5:80026720-80026721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59224150	chr5:80026726-80026727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200353729	chr5:80026727-80026728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544351105	chr5:80026807-80026808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183018117	chr5:80026808-80026809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533956140	chr5:80026870-80026871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553818303	chr5:80026878-80026879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187681261	chr5:80026881-80026882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190060702	chr5:80026883-80026884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547874324	chr5:80026954-80026955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs403236	chr5:80026970-80026971	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs534298185	chr5:80027018-80027019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542822982	chr5:80027026-80027027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142875134	chr5:80027042-80027043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182711971	chr5:80027116-80027117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151062819	chr5:80027118-80027119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559732745	chr5:80027142-80027143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561423067	chr5:80027151-80027152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187490558	chr5:80027302-80027303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13180808	chr5:80027319-80027320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13166580	chr5:80027334-80027335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547162360	chr5:80027339-80027340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115215663	chr5:80027378-80027379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140846358	chr5:80027388-80027389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552555804	chr5:80027397-80027398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149715765	chr5:80027493-80027494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145549146	chr5:80027533-80027534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192761304	chr5:80027552-80027553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73765866	chr5:80027613-80027614	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184456875	chr5:80027635-80027636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188987664	chr5:80027653-80027654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145511062	chr5:80027660-80027661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193141308	chr5:80027712-80027713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539734799	chr5:80027762-80027763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184318699	chr5:80027765-80027766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575658538	chr5:80027797-80027798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3852191	chr5:80027830-80027831	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs571112465	chr5:80027838-80027839	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs146426189	chr5:80027853-80027854	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs188940847	chr5:80027881-80027882	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79963600-80038600	Weak transcription	Right Ventricle	heart
2	chr5:79964800-80057800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:79971800-80112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:79972400-80037000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:79985000-80100600	Weak transcription	Brain Germinal Matrix	brain
6	chr5:79998600-80051000	Weak transcription	Fetal Brain Male	brain
7	chr5:79998800-80109400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:80000200-80038600	Weak transcription	Esophagus	oesophagus
9	chr5:80000400-80036800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr5:80000400-80036800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr5:80003600-80030400	Weak transcription	NHLF	lung
12	chr5:80004000-80050400	Weak transcription	NHDF-Ad	bronchial
13	chr5:80009800-80039000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:80010600-80036800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:80010800-80032400	Weak transcription	Stomach Mucosa	stomach
16	chr5:80015800-80032400	Weak transcription	Pancreas	Pancrea
17	chr5:80016000-80038400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:80016000-80040600	Weak transcription	Small Intestine	intestine
19	chr5:80016200-80040600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:80016200-80040600	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:80016200-80043600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:80016400-80027800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:80016400-80032400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:80016400-80034200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:80016400-80038200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:80016400-80050800	Weak transcription	Psoas Muscle	Psoas
27	chr5:80016600-80034200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:80020200-80043600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:80020800-80030800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr5:80021200-80026600	Strong transcription	Primary T cells from cord blood	blood
31	chr5:80021200-80026600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr5:80021200-80026600	Strong transcription	Liver	Liver
33	chr5:80021200-80026600	Strong transcription	Placenta	Placenta
34	chr5:80021200-80026800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:80021200-80031000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr5:80021400-80026600	Strong transcription	Adipose Nuclei	Adipose
37	chr5:80022200-80032200	Weak transcription	A549	lung
38	chr5:80022200-80040000	Weak transcription	K562	blood
39	chr5:80022600-80034000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:80022800-80038000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:80022800-80038600	Weak transcription	Colonic Mucosa	Colon
42	chr5:80022800-80040600	Weak transcription	Spleen	Spleen
43	chr5:80022800-80041400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:80022800-80051200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr5:80023000-80030800	Weak transcription	Fetal Intestine Small	intestine
46	chr5:80023000-80031200	Weak transcription	Fetal Stomach	stomach
47	chr5:80023000-80032400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:80023000-80032400	Weak transcription	Gastric	stomach
49	chr5:80023000-80034200	Weak transcription	HSMMtube	muscle
50	chr5:80023000-80036800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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