Variant report

Variant	nsv598326
Chromosome Location	chr5:61569169-61576324
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:61571147..61572996-chr5:61698680..61700895,2	K562	blood:
2	chr5:61570852..61575397-chr5:61600002..61603728,9	K562	blood:
3	chr5:61560442..61563605-chr5:61575064..61578930,3	K562	blood:
4	chr5:61573722..61577065-chr5:61577950..61581609,5	K562	blood:
5	chr5:61571856..61574619-chr5:61696505..61699367,2	K562	blood:
6	chr5:61570852..61575074-chr5:61600002..61604457,10	K562	blood:
7	chr5:61574738..61576264-chr5:61698125..61699775,2	K562	blood:
8	chr5:61568618..61571084-chr5:61573101..61574954,2	K562	blood:
9	chr5:61574146..61576082-chr5:61601811..61603666,2	MCF-7	breast:
10	chr5:61570576..61576152-chr5:61577980..61582631,7	K562	blood:
11	chr5:61565090..61569863-chr5:61600797..61604336,5	K562	blood:
12	chr5:61567057..61569712-chr5:61601806..61604336,2	K562	blood:
13	chr5:61568618..61571084-chr5:61573101..61574954,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000086189	chromatin interactions
ENSG00000068796	chromatin interactions
ENSG00000086200	chromatin interactions

Extended variants
information (count: 295 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12659814	chr5:61569169-61569170	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs199773307	chr5:61569183-61569184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201237262	chr5:61569184-61569185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs75255982	chr5:61569197-61569198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs75526531	chr5:61569198-61569199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574571204	chr5:61569202-61569203	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543204551	chr5:61569203-61569204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563479891	chr5:61569211-61569212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35672643	chr5:61569249-61569250	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs545939873	chr5:61569253-61569254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559372575	chr5:61569270-61569271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113681164	chr5:61569282-61569283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548856685	chr5:61569323-61569324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562294393	chr5:61569400-61569401	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs13172740	chr5:61569421-61569422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs13172741	chr5:61569425-61569426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs13172878	chr5:61569458-61569459	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs13154917	chr5:61569464-61569465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531240200	chr5:61569468-61569469	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs13172881	chr5:61569474-61569475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs13172479	chr5:61569480-61569481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550722476	chr5:61569483-61569484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs570727498	chr5:61569488-61569489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs539525865	chr5:61569514-61569515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs71617426	chr5:61569516-61569517	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566847390	chr5:61569557-61569558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs368048592	chr5:61569564-61569565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140641265	chr5:61569719-61569720	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs112073331	chr5:61569761-61569762	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191313636	chr5:61569768-61569769	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs574602573	chr5:61569795-61569796	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537356726	chr5:61569843-61569844	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545297900	chr5:61569861-61569862	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs557162951	chr5:61569899-61569900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181333610	chr5:61569912-61569913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75505009	chr5:61569954-61569955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185601686	chr5:61569979-61569980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547889197	chr5:61569991-61569992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572794360	chr5:61570063-61570064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542293501	chr5:61570095-61570096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371850564	chr5:61570096-61570097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541415543	chr5:61570351-61570352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561734443	chr5:61570421-61570422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531077592	chr5:61570594-61570595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560854186	chr5:61570600-61570601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528080383	chr5:61570616-61570617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550890141	chr5:61570619-61570620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374253288	chr5:61570621-61570622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150481637	chr5:61570651-61570652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73119506	chr5:61570700-61570701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Intellectual disability	22102821	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
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	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	20729466	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
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
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61565200-61569600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:61567400-61569600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:61568000-61569800	Weak transcription	K562	blood
4	chr5:61569600-61570000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:61569600-61570000	Enhancers	Fetal Muscle Leg	muscle
6	chr5:61569600-61570200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:61569600-61570200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:61569800-61570200	Enhancers	Brain Anterior Caudate	brain
9	chr5:61569800-61570400	Enhancers	K562	blood
10	chr5:61570000-61571400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:61570400-61571200	Weak transcription	K562	blood
12	chr5:61571000-61574400	Enhancers	Primary hematopoietic stem cells	blood
13	chr5:61571200-61572600	Enhancers	K562	blood
14	chr5:61571400-61571600	Enhancers	Fetal Intestine Small	intestine
15	chr5:61571400-61572400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:61571600-61577400	Weak transcription	Fetal Intestine Small	intestine
17	chr5:61571800-61572800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:61572200-61572600	Enhancers	HUVEC	blood vessel
19	chr5:61572400-61572600	Enhancers	GM12878-XiMat	blood
20	chr5:61572400-61572800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr5:61572400-61573200	Enhancers	Fetal Intestine Large	intestine
22	chr5:61572400-61573400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:61572400-61573600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:61572400-61573600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:61572400-61573600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:61572400-61574800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:61572600-61572800	Flanking Active TSS	HUVEC	blood vessel
28	chr5:61572600-61573000	Enhancers	HSMM	muscle
29	chr5:61572600-61573000	Active TSS	K562	blood
30	chr5:61572600-61573400	Flanking Active TSS	GM12878-XiMat	blood
31	chr5:61572600-61573600	Enhancers	A549	lung
32	chr5:61572600-61573800	Enhancers	HMEC	breast
33	chr5:61572600-61573800	Enhancers	NHEK	skin
34	chr5:61572800-61573000	Enhancers	HUVEC	blood vessel
35	chr5:61572800-61573200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr5:61572800-61573200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:61572800-61573200	Enhancers	Fetal Heart	heart
38	chr5:61572800-61573200	Enhancers	Hela-S3	cervix
39	chr5:61572800-61573400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:61572800-61573400	Enhancers	Primary T cells from cord blood	blood
41	chr5:61572800-61573400	Enhancers	Fetal Kidney	kidney
42	chr5:61572800-61573400	Enhancers	NH-A	brain
43	chr5:61573000-61573200	Flanking Active TSS	HUVEC	blood vessel
44	chr5:61573000-61573400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr5:61573000-61573400	Flanking Active TSS	K562	blood
46	chr5:61573000-61573600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:61573000-61573800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:61573200-61573800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr5:61573200-61573800	Enhancers	HUVEC	blood vessel
50	chr5:61573200-61575000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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