Variant report

Variant	nsv968978
Chromosome Location	chr5:114620599-114625007
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114619634..114629040-chr5:114629951..114633566,14	MCF-7	breast:
2	chr5:114598335..114600352-chr5:114624872..114627572,2	K562	blood:
3	chr5:114618112..114620464-chr5:114620662..114622678,3	K562	blood:
4	chr5:114619029..114622106-chr5:114630499..114633053,3	K562	blood:
5	chr5:114614199..114617138-chr5:114617359..114621851,4	K562	blood:
6	chr5:114623240..114626730-chr5:114627807..114632536,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PGGT1B-5	chr5:114624733-114625027	NONHSAT103302

No data

Variant related genes	Relation type
ENSG00000164219	chromatin interactions
ENSG00000164221	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189371209	chr5:114620614-114620615	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148811520	chr5:114620652-114620653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369092827	chr5:114620656-114620657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs573602583	chr5:114620696-114620697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542708698	chr5:114620724-114620725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562604320	chr5:114620725-114620726	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145253358	chr5:114620735-114620736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545271594	chr5:114620736-114620737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565175920	chr5:114620750-114620751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs527551669	chr5:114620771-114620772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547675847	chr5:114620778-114620779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561100093	chr5:114620791-114620792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs530124316	chr5:114620828-114620829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549849606	chr5:114620854-114620855	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569860824	chr5:114620864-114620865	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs532555170	chr5:114620896-114620897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552310538	chr5:114620905-114620906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566263542	chr5:114620959-114620960	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181020342	chr5:114620995-114620996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73780096	chr5:114621011-114621012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186502490	chr5:114621060-114621061	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs17137603	chr5:114621090-114621091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556291804	chr5:114621237-114621238	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576247300	chr5:114621255-114621256	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs57979677	chr5:114621270-114621271	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569870767	chr5:114621310-114621311	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs369948353	chr5:114621318-114621319	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558420445	chr5:114621366-114621367	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs190427624	chr5:114621411-114621412	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs540936060	chr5:114621454-114621455	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182686864	chr5:114621501-114621502	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544386021	chr5:114621566-114621567	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530016530	chr5:114621569-114621570	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs185933155	chr5:114621570-114621571	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs377613422	chr5:114621594-114621595	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs59891755	chr5:114621597-114621598	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs369712435	chr5:114621603-114621604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs532420872	chr5:114621610-114621611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs146507524	chr5:114621627-114621628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190698522	chr5:114621650-114621651	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs141138611	chr5:114621705-114621706	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs548577529	chr5:114621715-114621716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568783368	chr5:114621746-114621747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536246442	chr5:114621772-114621773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs546161545	chr5:114621993-114621994	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs68086593	chr5:114622017-114622018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs533256385	chr5:114622028-114622029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369620113	chr5:114622039-114622040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569672596	chr5:114622049-114622050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs2963772	chr5:114622055-114622056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:77)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114599000-114624000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:114599000-114626600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:114599000-114630800	Weak transcription	Psoas Muscle	Psoas
4	chr5:114599000-114631200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:114599000-114631200	Weak transcription	HSMM	muscle
6	chr5:114599000-114631400	Weak transcription	Left Ventricle	heart
7	chr5:114599200-114622000	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:114599200-114631200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:114599400-114621800	Weak transcription	Brain Angular Gyrus	brain
10	chr5:114601200-114631200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:114601200-114631400	Weak transcription	Aorta	Aorta
12	chr5:114602800-114621800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:114604000-114622400	Weak transcription	NHDF-Ad	bronchial
14	chr5:114604000-114630600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:114610000-114621400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:114610400-114621400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:114610800-114621800	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:114611200-114621800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:114611200-114622000	Weak transcription	Adipose Nuclei	Adipose
20	chr5:114611200-114622000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:114611200-114630400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:114611200-114630400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr5:114611200-114630800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr5:114611400-114621200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:114611400-114624200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:114611400-114627600	Weak transcription	Primary B cells from cord blood	blood
27	chr5:114611400-114628600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:114611600-114622200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:114611600-114623200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:114612400-114621600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:114612400-114625000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:114612800-114621200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr5:114612800-114622400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:114612800-114630200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:114615800-114621400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:114620000-114622800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:114620800-114621600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:114621000-114622000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:114621200-114621400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:114621200-114621400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr5:114621200-114622400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr5:114621400-114621600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:114621400-114622000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:114621400-114622000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr5:114621400-114622200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:114621400-114628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr5:114621600-114622200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr5:114621600-114628400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:114621600-114630400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:114621800-114622000	Enhancers	Brain Angular Gyrus	brain

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