Variant report

Variant	nsv980641
Chromosome Location	chr5:49733616-49734636
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	chr5:49731051..49732867-chr5:49733750..49736731,2	MCF-7	breast:
2	chr5:49730001..49733814-chr5:49735437..49737964,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170571	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141517076	chr5:49733634-49733635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563579165	chr5:49733646-49733647	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375042203	chr5:49733664-49733665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs529071179	chr5:49733671-49733672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547097823	chr5:49733714-49733715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187022469	chr5:49733764-49733765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565732033	chr5:49733779-49733780	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139855066	chr5:49733788-49733789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141556895	chr5:49733810-49733811	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376564235	chr5:49733816-49733817	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs551384692	chr5:49733843-49733844	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs570472013	chr5:49733866-49733867	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs539448344	chr5:49733928-49733929	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556408528	chr5:49733947-49733948	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs576341693	chr5:49733978-49733979	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs7735864	chr5:49734088-49734089	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs7713459	chr5:49734097-49734098	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs7735878	chr5:49734111-49734112	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs535655000	chr5:49734113-49734114	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs555958105	chr5:49734146-49734147	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs7713618	chr5:49734176-49734177	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs113702349	chr5:49734180-49734181	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs373826569	chr5:49734196-49734197	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs572044650	chr5:49734206-49734207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541164239	chr5:49734214-49734215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564183135	chr5:49734252-49734253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555655061	chr5:49734306-49734307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577666337	chr5:49734338-49734339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543465069	chr5:49734344-49734345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563542330	chr5:49734347-49734348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529222308	chr5:49734375-49734376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191107770	chr5:49734418-49734419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367670384	chr5:49734423-49734424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146173305	chr5:49734439-49734440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559538754	chr5:49734444-49734445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528283192	chr5:49734465-49734466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372368187	chr5:49734467-49734468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570631093	chr5:49734472-49734473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539411351	chr5:49734502-49734503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs363983	chr5:49734505-49734506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs2663075	chr5:49734570-49734571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186794065	chr5:49734571-49734572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555674676	chr5:49734575-49734576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111789556	chr5:49734592-49734593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190019018	chr5:49734600-49734601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49720400-49736400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:49720400-49736400	Weak transcription	Spleen	Spleen
3	chr5:49723600-49735200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr5:49724200-49735800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:49726400-49735000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr5:49727200-49734400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:49727200-49736000	Weak transcription	HSMM	muscle
8	chr5:49727400-49735000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr5:49727400-49735200	Weak transcription	Fetal Thymus	thymus
10	chr5:49727600-49735000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:49727600-49735800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:49727800-49736400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:49728000-49735800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:49728200-49736000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:49728600-49735200	Weak transcription	NHEK	skin
16	chr5:49729200-49735000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:49730000-49735000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr5:49730400-49735000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:49730600-49734000	Weak transcription	Primary B cells from cord blood	blood
20	chr5:49730600-49735200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:49731400-49734000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:49731400-49735000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:49731400-49735000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr5:49731400-49735200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:49731400-49735200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:49731400-49735400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:49731400-49735600	Weak transcription	Thymus	Thymus
28	chr5:49731600-49736000	Weak transcription	Small Intestine	intestine
29	chr5:49731800-49736000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr5:49732400-49735000	Weak transcription	Primary T cells from cord blood	blood
31	chr5:49732600-49735200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:49733000-49734800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr5:49733000-49735200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:49733200-49733800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr5:49733200-49735000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr5:49733200-49735000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:49733200-49735000	Enhancers	Dnd41	blood
38	chr5:49733200-49735200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr5:49733400-49734000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:49733400-49735000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr5:49733600-49734400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:49733800-49734200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr5:49734000-49734200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:49734000-49734200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr5:49734000-49735200	Enhancers	Primary B cells from cord blood	blood
46	chr5:49734000-49735200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:49734200-49735000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr5:49734200-49735000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:49734400-49734600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:49734400-49735000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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