Variant report

Variant	nsv881707
Chromosome Location	chr5:58741491-58784102
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	chr5:58784059..58785575-chr5:58790965..58792487,2	MCF-7	breast:
2	chr5:58737750..58739829-chr5:58740466..58743523,3	MCF-7	breast:

Extended variants
information (count: 1464 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1464 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16889853	chr5:58741491-58741492	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545061084	chr5:58741500-58741501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113901174	chr5:58741505-58741506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559857122	chr5:58741513-58741514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558916019	chr5:58741569-58741570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565239001	chr5:58741572-58741573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182443935	chr5:58741594-58741595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541280937	chr5:58741633-58741634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561610948	chr5:58741674-58741675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530445384	chr5:58741745-58741746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188106873	chr5:58741750-58741751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568910299	chr5:58741759-58741760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532875162	chr5:58741853-58741854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114825331	chr5:58741877-58741878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572075913	chr5:58741895-58741896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540663120	chr5:58742011-58742012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138932327	chr5:58742082-58742083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10434567	chr5:58742090-58742091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115979629	chr5:58742206-58742207	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553715853	chr5:58742234-58742235	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115654533	chr5:58742295-58742296	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115564098	chr5:58742386-58742387	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148529673	chr5:58742415-58742416	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192939542	chr5:58742428-58742429	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182449709	chr5:58742452-58742453	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558976623	chr5:58742485-58742486	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572481503	chr5:58742539-58742540	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371328171	chr5:58742543-58742544	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374732742	chr5:58742552-58742553	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561368257	chr5:58742553-58742554	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111702501	chr5:58742554-58742555	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563361346	chr5:58742607-58742608	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150613576	chr5:58742632-58742633	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544087188	chr5:58742634-58742635	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34506272	chr5:58742702-58742703	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563972416	chr5:58742714-58742715	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530765007	chr5:58742771-58742772	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551104056	chr5:58742782-58742783	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571301019	chr5:58742839-58742840	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140714985	chr5:58742896-58742897	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs56085550	chr5:58742910-58742911	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567085213	chr5:58742930-58742931	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536042443	chr5:58742960-58742961	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549638497	chr5:58742975-58742976	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145273689	chr5:58742980-58742981	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539007982	chr5:58742987-58742988	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562760076	chr5:58743005-58743006	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369403144	chr5:58743023-58743024	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147646199	chr5:58743042-58743043	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534904396	chr5:58743115-58743116	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	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
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58705600-58751400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:58709800-58756800	Weak transcription	Aorta	Aorta
3	chr5:58716000-58756600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:58731800-58764800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:58735800-58756400	Weak transcription	Psoas Muscle	Psoas
6	chr5:58736600-58744800	Enhancers	Fetal Brain Male	brain
7	chr5:58739000-58742200	Weak transcription	Fetal Lung	lung
8	chr5:58739400-58742200	Weak transcription	A549	lung
9	chr5:58740400-58751400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:58741400-58746000	Enhancers	Fetal Brain Female	brain
11	chr5:58742200-58743000	Enhancers	Fetal Lung	lung
12	chr5:58742200-58744400	Genic enhancers	A549	lung
13	chr5:58742400-58743000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:58742400-58743000	Enhancers	Liver	Liver
15	chr5:58744400-58746200	Strong transcription	A549	lung
16	chr5:58744800-58745200	Weak transcription	Fetal Brain Male	brain
17	chr5:58745200-58746600	Enhancers	Fetal Brain Male	brain
18	chr5:58746000-58754200	Weak transcription	Fetal Brain Female	brain
19	chr5:58746200-58747200	ZNF genes & repeats	A549	lung
20	chr5:58747200-58747800	Strong transcription	A549	lung
21	chr5:58747200-58748400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:58747800-58748600	ZNF genes & repeats	A549	lung
23	chr5:58748400-58750000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:58748600-58752400	Strong transcription	A549	lung
25	chr5:58750400-58756200	Weak transcription	Fetal Stomach	stomach
26	chr5:58750600-58754800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:58750800-58751400	Enhancers	Liver	Liver
28	chr5:58751000-58751600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:58751000-58752400	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr5:58751200-58751600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:58751400-58751600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:58751400-58751800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:58751400-58752200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr5:58751400-58753400	Weak transcription	Liver	Liver
35	chr5:58751600-58755400	Weak transcription	Fetal Kidney	kidney
36	chr5:58751800-58752600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:58752200-58753600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:58752200-58756600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:58752400-58753400	ZNF genes & repeats	A549	lung
40	chr5:58752400-58753800	Weak transcription	Fetal Intestine Small	intestine
41	chr5:58752400-58756400	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:58752600-58754600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:58753000-58753200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:58753200-58753600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:58753400-58754600	Enhancers	Liver	Liver
46	chr5:58753400-58754600	Enhancers	Fetal Brain Male	brain
47	chr5:58753400-58755000	Strong transcription	A549	lung
48	chr5:58753600-58754200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:58753600-58767400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:58753800-58755400	Enhancers	Pancreatic Islets	Pancreatic Islet

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