Variant report

Variant	nsv526042
Chromosome Location	chr5:54017609-54018886
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:54018088..54021349-chr5:54022983..54028263,5	K562	blood:
2	chr5:54017504..54021673-chr5:54022029..54028384,8	K562	blood:
3	chr5:54014127..54018411-chr5:54034085..54037239,3	K562	blood:
4	chr5:54017315..54018938-chr5:54030399..54032584,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12659671	chr5:54017609-54017610	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192968237	chr5:54017639-54017640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546498229	chr5:54017689-54017690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541792820	chr5:54017764-54017765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143121815	chr5:54017786-54017787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75366743	chr5:54017793-54017794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578030444	chr5:54017826-54017827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544972728	chr5:54017844-54017845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560097661	chr5:54017874-54017875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141761020	chr5:54017879-54017880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549080183	chr5:54017902-54017903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560796242	chr5:54017905-54017906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146263734	chr5:54017926-54017927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550000439	chr5:54017933-54017934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571501881	chr5:54018005-54018006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538947900	chr5:54018006-54018007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139412473	chr5:54018025-54018026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566080592	chr5:54018027-54018028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561532120	chr5:54018069-54018070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183362251	chr5:54018074-54018075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540783820	chr5:54018078-54018079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554925705	chr5:54018088-54018089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116450182	chr5:54018097-54018098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7717989	chr5:54018103-54018104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556444705	chr5:54018125-54018126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577865922	chr5:54018131-54018132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188521691	chr5:54018190-54018191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192943971	chr5:54018209-54018210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572031612	chr5:54018215-54018216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375770869	chr5:54018217-54018218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs3886214	chr5:54018232-54018233	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs371315444	chr5:54018260-54018261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531350309	chr5:54018291-54018292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142307520	chr5:54018292-54018293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145951243	chr5:54018301-54018302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371963407	chr5:54018388-54018389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71622147	chr5:54018406-54018407	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs548091755	chr5:54018447-54018448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139513739	chr5:54018462-54018463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184738227	chr5:54018502-54018503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149700087	chr5:54018505-54018506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570063736	chr5:54018536-54018537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149951807	chr5:54018559-54018560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371541264	chr5:54018560-54018561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145805002	chr5:54018575-54018576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs60066599	chr5:54018581-54018582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10051041	chr5:54018596-54018597	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs112122700	chr5:54018605-54018606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78262930	chr5:54018609-54018610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553912707	chr5:54018656-54018657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
abnormal development	18461090	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54013200-54020800	Enhancers	Fetal Heart	heart
2	chr5:54014600-54023000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr5:54015800-54018000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:54015800-54021600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:54016000-54018000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:54016000-54021400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:54016000-54022000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:54016200-54018200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:54016400-54018400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:54016400-54018600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:54016400-54018600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:54016400-54021800	Weak transcription	HSMMtube	muscle
13	chr5:54016600-54018000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:54016600-54018200	Weak transcription	Osteobl	bone
15	chr5:54016600-54018600	Weak transcription	NHDF-Ad	bronchial
16	chr5:54016600-54021600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:54016800-54018200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:54016800-54018200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:54016800-54018600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:54016800-54021400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:54016800-54021600	Weak transcription	NH-A	brain
22	chr5:54016800-54021600	Weak transcription	NHLF	lung
23	chr5:54017000-54018600	Weak transcription	Ovary	ovary
24	chr5:54017000-54038000	Weak transcription	Aorta	Aorta
25	chr5:54017400-54018800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:54017600-54018000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:54017600-54021600	Weak transcription	Fetal Brain Male	brain
28	chr5:54018000-54018200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:54018000-54018200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:54018000-54018400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr5:54018000-54019200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:54018200-54018600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:54018200-54018800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:54018200-54019200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:54018200-54019200	Enhancers	Osteobl	bone
36	chr5:54018400-54019400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr5:54018600-54018800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:54018600-54018800	Enhancers	Ovary	ovary
39	chr5:54018600-54019000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:54018600-54019000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:54018600-54019200	Enhancers	NHDF-Ad	bronchial
42	chr5:54018600-54021600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:54018800-54019000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:54018800-54021600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links