Variant report

Variant	nsv508356
Chromosome Location	chr5:52646168-52703120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:52647524..52650136-chr5:52654127..52655864,2	MCF-7	breast:
2	chr5:52647524..52650136-chr5:52654127..52655864,2	MCF-7	breast:
3	chr5:52648239..52650977-chr5:52671343..52673894,2	K562	blood:
4	chr5:52646929..52648945-chr5:52664247..52665920,2	MCF-7	breast:
5	chr5:52642800..52645145-chr5:52658314..52660881,2	K562	blood:
6	chr5:52639118..52641979-chr5:52646001..52647528,2	MCF-7	breast:
7	chr5:52645723..52647612-chr5:52667338..52668850,2	K562	blood:
8	chr5:52629610..52631270-chr5:52660976..52663491,2	MCF-7	breast:
9	chr5:52655792..52658263-chr5:52658603..52660389,2	K562	blood:
10	chr5:52653991..52656439-chr5:52656965..52659829,2	MCF-7	breast:
11	chr5:52655792..52658263-chr5:52658603..52660389,2	K562	blood:
12	chr5:52645723..52647612-chr5:52667338..52668850,2	K562	blood:
13	chr5:52650697..52652220-chr5:52654154..52656158,2	MCF-7	breast:
14	chr5:52646929..52648945-chr5:52664247..52665920,2	MCF-7	breast:
15	chr5:52701301..52702841-chr5:52705588..52707277,2	MCF-7	breast:
16	chr5:52650697..52652220-chr5:52654154..52656158,2	MCF-7	breast:
17	chr5:52653991..52656439-chr5:52656965..52659829,2	MCF-7	breast:
18	chr5:52648239..52650977-chr5:52671343..52673894,2	K562	blood:

No data

Extended variants
information (count: 2272 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2272 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16881348	chr5:52646214-52646215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550460996	chr5:52646225-52646226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532174397	chr5:52646234-52646235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544169538	chr5:52646244-52646245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568842099	chr5:52646299-52646300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374975408	chr5:52646318-52646319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539234990	chr5:52646343-52646344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186438420	chr5:52646344-52646345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368505723	chr5:52646378-52646379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534034419	chr5:52646379-52646380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555689994	chr5:52646387-52646388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556085210	chr5:52646389-52646390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574073097	chr5:52646422-52646423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372626240	chr5:52646437-52646438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375884380	chr5:52646485-52646486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544663341	chr5:52646499-52646500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188637750	chr5:52646545-52646546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141134434	chr5:52646574-52646575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554653352	chr5:52646592-52646593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545556833	chr5:52646612-52646613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150297379	chr5:52646618-52646619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77059322	chr5:52646667-52646668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372064585	chr5:52646697-52646698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181379699	chr5:52646698-52646699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2406619	chr5:52646748-52646749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139129203	chr5:52646749-52646750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370625776	chr5:52646750-52646751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3054636	chr5:52646751-52646752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386687997	chr5:52646752-52646753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2406620	chr5:52646753-52646754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375060411	chr5:52646754-52646755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561496302	chr5:52646783-52646784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528839947	chr5:52646789-52646790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185914759	chr5:52646857-52646858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529247913	chr5:52646900-52646901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568780062	chr5:52646909-52646910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533096896	chr5:52647095-52647096	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs137966703	chr5:52647116-52647117	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143515420	chr5:52647126-52647127	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115917531	chr5:52647133-52647134	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147178663	chr5:52647209-52647210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190661221	chr5:52647224-52647225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529170448	chr5:52647228-52647229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538226064	chr5:52647229-52647230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547824708	chr5:52647249-52647250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556618382	chr5:52647253-52647254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578238511	chr5:52647285-52647286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs37794	chr5:52647301-52647302	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554490954	chr5:52647317-52647318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533646441	chr5:52647323-52647324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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	18641027	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52640000-52646200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:52640800-52646200	Weak transcription	NHEK	skin
3	chr5:52642800-52656000	Weak transcription	Aorta	Aorta
4	chr5:52645200-52646200	Enhancers	Fetal Brain Male	brain
5	chr5:52645600-52646400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:52645600-52646600	Weak transcription	Fetal Brain Female	brain
7	chr5:52645600-52647400	Enhancers	HSMM	muscle
8	chr5:52645600-52647400	Enhancers	NHLF	lung
9	chr5:52645600-52647600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:52645800-52646200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:52645800-52646200	Enhancers	HSMMtube	muscle
12	chr5:52645800-52646400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:52645800-52646600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:52645800-52647000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:52645800-52647200	Enhancers	Fetal Stomach	stomach
16	chr5:52645800-52647400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:52645800-52647400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:52645800-52647400	Enhancers	NHDF-Ad	bronchial
19	chr5:52646000-52646600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:52646000-52647400	Enhancers	HMEC	breast
21	chr5:52646200-52646600	Weak transcription	Fetal Brain Male	brain
22	chr5:52646200-52647000	Enhancers	NHEK	skin
23	chr5:52646200-52647200	Weak transcription	HSMMtube	muscle
24	chr5:52646200-52647400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:52646400-52647000	Enhancers	Colon Smooth Muscle	Colon
26	chr5:52646400-52647400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:52646400-52647600	Enhancers	A549	lung
28	chr5:52646400-52649000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:52646400-52650400	Weak transcription	Osteobl	bone
30	chr5:52646400-52651200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:52646600-52646800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:52646600-52647200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:52646600-52647200	Enhancers	Fetal Brain Female	brain
34	chr5:52646600-52647400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:52646600-52647400	Enhancers	Fetal Brain Male	brain
36	chr5:52646800-52647000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:52647000-52647200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:52647000-52647400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:52647200-52647400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:52647200-52647400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:52647200-52647400	Enhancers	Lung	lung
42	chr5:52647200-52647400	Enhancers	HSMMtube	muscle
43	chr5:52647400-52650600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:52647400-52651000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:52647400-52651000	Weak transcription	NHLF	lung
46	chr5:52647400-52651400	Weak transcription	NHDF-Ad	bronchial
47	chr5:52647400-52651600	Weak transcription	HSMM	muscle
48	chr5:52647600-52654800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:52649000-52649400	Weak transcription	Lung	lung
50	chr5:52649000-52649600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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