Variant report

Variant	nsv969957
Chromosome Location	chr5:53404835-53407896
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	chr5:53407150..53408654-chr5:53411213..53413339,2	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578233874	chr5:53404868-53404869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375048073	chr5:53404872-53404873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545609722	chr5:53404918-53404919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181233278	chr5:53405024-53405025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78629297	chr5:53405039-53405040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536233207	chr5:53405068-53405069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185742367	chr5:53405081-53405082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76784858	chr5:53405089-53405090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190595113	chr5:53405100-53405101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528834004	chr5:53405122-53405123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528613090	chr5:53405133-53405134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182988932	chr5:53405147-53405148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562431550	chr5:53405257-53405258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116006942	chr5:53405314-53405315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551288405	chr5:53405342-53405343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35950978	chr5:53405471-53405472	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs527798178	chr5:53405506-53405507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542233535	chr5:53405572-53405573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547469659	chr5:53405575-53405576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140433401	chr5:53405750-53405751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556107317	chr5:53405758-53405759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556938746	chr5:53405793-53405794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144809612	chr5:53405821-53405822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539294501	chr5:53405834-53405835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12054756	chr5:53405879-53405880	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550492117	chr5:53405892-53405893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35727162	chr5:53405904-53405905	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs156696	chr5:53405952-53405953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs555422308	chr5:53405964-53405965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145836893	chr5:53405966-53405967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532539291	chr5:53405978-53405979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550877820	chr5:53406028-53406029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188719931	chr5:53406040-53406041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562096266	chr5:53406085-53406086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546209377	chr5:53406100-53406101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533065549	chr5:53406101-53406102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192489998	chr5:53406106-53406107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148995619	chr5:53406164-53406165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143825551	chr5:53406246-53406247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549245278	chr5:53406250-53406251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10513038	chr5:53406259-53406260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531787147	chr5:53406263-53406264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550204015	chr5:53406294-53406295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571630975	chr5:53406326-53406327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35825546	chr5:53406333-53406334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538981894	chr5:53406398-53406399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151027909	chr5:53406492-53406493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566174114	chr5:53406505-53406506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141242663	chr5:53406541-53406542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555217047	chr5:53406590-53406591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	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
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53357000-53408000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr5:53377400-53412200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:53377800-53408600	Weak transcription	Primary B cells from cord blood	blood
4	chr5:53380600-53408600	Weak transcription	Fetal Intestine Large	intestine
5	chr5:53380800-53408600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr5:53389400-53416400	Weak transcription	Left Ventricle	heart
7	chr5:53390000-53405600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:53391600-53410800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:53391600-53411200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr5:53398400-53410000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:53400000-53408600	Weak transcription	Primary T cells from cord blood	blood
12	chr5:53400200-53408800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:53400400-53405400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:53400400-53406000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:53401200-53410000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:53401400-53413600	Weak transcription	Fetal Intestine Small	intestine
17	chr5:53401600-53411400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr5:53403400-53408000	Weak transcription	K562	blood
19	chr5:53404200-53405200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:53404400-53405600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:53404600-53405400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr5:53404800-53406400	Enhancers	NHEK	skin
23	chr5:53405200-53405400	Enhancers	Colon Smooth Muscle	Colon
24	chr5:53405200-53411400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:53405400-53405800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:53405400-53411600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:53405600-53406200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:53405600-53406200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:53405600-53406200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:53405600-53408800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:53405800-53406400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:53405800-53408600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:53405800-53408800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:53406000-53406400	Enhancers	HMEC	breast
35	chr5:53406000-53407600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:53406000-53408200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr5:53406200-53408600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:53406200-53411600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:53406400-53408400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:53406400-53408400	Weak transcription	HMEC	breast
41	chr5:53406400-53411600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:53406400-53411600	Weak transcription	NHEK	skin
43	chr5:53406800-53411600	Weak transcription	GM12878-XiMat	blood
44	chr5:53407200-53410800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:53407200-53411800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:53407600-53408000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:53407800-53410200	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links