Variant report

Variant	esv3385694
Chromosome Location	chr5:101599102-101620704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 773 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:773 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529466884	chr5:101599125-101599126	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138708729	chr5:101599175-101599176	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200750601	chr5:101599178-101599179	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189687821	chr5:101599183-101599184	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115178423	chr5:101599210-101599211	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566281330	chr5:101599222-101599223	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569281721	chr5:101599239-101599240	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144245884	chr5:101599276-101599277	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557837007	chr5:101599287-101599288	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569714017	chr5:101599318-101599319	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377465831	chr5:101599377-101599378	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537089328	chr5:101599401-101599402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370437449	chr5:101599404-101599405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180824177	chr5:101599409-101599410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146706781	chr5:101599419-101599420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386690594	chr5:101599421-101599422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573882552	chr5:101599431-101599432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368893866	chr5:101599449-101599450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370687578	chr5:101599463-101599464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374382637	chr5:101599498-101599499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367958965	chr5:101599517-101599518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552851630	chr5:101599539-101599540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11957175	chr5:101599596-101599597	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544774020	chr5:101599618-101599619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146733749	chr5:101599631-101599632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530500761	chr5:101599636-101599637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542669783	chr5:101599640-101599641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560887485	chr5:101599654-101599655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189241809	chr5:101599703-101599704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149927364	chr5:101599715-101599716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114059501	chr5:101599734-101599735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566097819	chr5:101599736-101599737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186108894	chr5:101599742-101599743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190886283	chr5:101599748-101599749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183082559	chr5:101599753-101599754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533331794	chr5:101599785-101599786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537028010	chr5:101599860-101599861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72777944	chr5:101599869-101599870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56782654	chr5:101599918-101599919	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs190376094	chr5:101599929-101599930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534566649	chr5:101599935-101599936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543004907	chr5:101599954-101599955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553279865	chr5:101600013-101600014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369166775	chr5:101600016-101600017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149410613	chr5:101600111-101600112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113753489	chr5:101600124-101600125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577752379	chr5:101600156-101600157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183528707	chr5:101600185-101600186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557069013	chr5:101600199-101600200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373918170	chr5:101600231-101600232	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
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101570200-101599600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:101580000-101604400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:101589000-101600000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:101589800-101600000	Weak transcription	Fetal Intestine Small	intestine
5	chr5:101591800-101605800	Weak transcription	Liver	Liver
6	chr5:101598000-101599400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:101598800-101604000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:101599400-101602000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:101599600-101604400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:101600000-101604400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:101602000-101602400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
12	chr5:101602400-101604200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:101604000-101606400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr5:101604200-101606600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr5:101604400-101605600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr5:101604400-101606200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:101604400-101606400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:101605600-101605800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:101605600-101606200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:101605800-101606400	Strong transcription	Liver	Liver
21	chr5:101605800-101613000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:101606200-101610000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr5:101606200-101612200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:101606400-101610000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:101606400-101611800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:101606400-101624400	Weak transcription	Liver	Liver
27	chr5:101606600-101611600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr5:101607400-101608400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:101607800-101608200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:101608000-101614200	Weak transcription	Fetal Intestine Small	intestine
31	chr5:101609800-101610200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:101610000-101610600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:101610000-101612600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr5:101610200-101610400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:101610600-101612800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:101611600-101615600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr5:101611800-101612400	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr5:101612000-101612200	Enhancers	Primary B cells from cord blood	blood
39	chr5:101612200-101616000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr5:101612400-101613000	Active TSS	Primary hematopoietic stem cells	blood
41	chr5:101612400-101613400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr5:101612600-101613400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr5:101612800-101613200	Active TSS	Primary B cells from cord blood	blood
44	chr5:101612800-101613200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:101612800-101614400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:101613000-101613200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:101613000-101613400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:101613000-101614000	Enhancers	Primary T cells from cord blood	blood
49	chr5:101613000-101614400	Enhancers	Primary hematopoietic stem cells	blood
50	chr5:101613000-101614400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links