Variant report

Variant	nsv528880
Chromosome Location	chr5:42940230-42967215
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:27)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:42943601..42947124-chr5:43040849..43043417,3	K562	blood:
2	chr5:42949298..42951347-chr5:43007117..43009700,3	MCF-7	breast:
3	chr5:42930977..42933954-chr5:42950606..42953206,2	MCF-7	breast:
4	chr15:52860677..52861470-chr5:42950399..42950927,2	Hela-S3	cervix:
5	chr5:42961475..42963380-chr5:42978584..42980242,2	K562	blood:
6	chr5:42946321..42948335-chr5:43066573..43068455,2	K562	blood:
7	chr5:42949769..42951285-chr5:42989512..42991530,2	K562	blood:
8	chr5:42962325..42964680-chr5:43067049..43069391,2	K562	blood:
9	chr5:42904231..42907156-chr5:42940925..42943861,2	K562	blood:
10	chr5:42950507..42951264-chr5:134475534..134476311,2	Hela-S3	cervix:
11	chr1:249167058..249167599-chr5:42950376..42951299,2	Hela-S3	cervix:
12	chr5:42939089..42940720-chr5:42941023..42943265,2	MCF-7	breast:
13	chr5:42948996..42951624-chr5:43068211..43070769,2	MCF-7	breast:
14	chr5:42941021..42945683-chr5:42991872..42995259,5	K562	blood:
15	chr19:49138548..49139536-chr5:42949981..42950933,2	Hela-S3	cervix:
16	chr18:44676633..44677401-chr5:42950458..42951078,2	Hela-S3	cervix:
17	chr5:42958938..42960616-chr5:42961964..42963478,2	MCF-7	breast:
18	chr5:42942640..42945683-chr5:42991617..42995259,4	K562	blood:
19	chr5:42939089..42940720-chr5:42941023..42943265,2	MCF-7	breast:
20	chr11:66056545..66057202-chr5:42950293..42951110,2	Hela-S3	cervix:
21	chr5:42950468..42952623-chr5:43006794..43010300,4	MCF-7	breast:
22	chr17:8023704..8024472-chr5:42950367..42950876,2	Hela-S3	cervix:
23	chr5:42953773..42956177-chr5:43040486..43043453,2	K562	blood:
24	chr5:42958938..42960616-chr5:42961964..42963478,2	MCF-7	breast:
25	chr15:65587975..65588974-chr5:42950581..42951338,2	Hela-S3	cervix:
26	chr5:42949709..42952302-chr5:42999079..43000906,2	MCF-7	breast:
27	chr18:3447374..3450339-chr5:42958722..42960710,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF131-4	chr5:42950963-42959174	XLOC_004362
2	lnc-ZNF131-4	chr5:42960426-42960649	XLOC_004362

No data

Variant related genes	Relation type
ENSG00000215068	chromatin interactions
ENSG00000174851	chromatin interactions
ENSG00000177738	chromatin interactions
ENSG00000177426	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000128989	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000271788	chromatin interactions
ENSG00000167220	chromatin interactions
ENSG00000177721	chromatin interactions

Extended variants
information (count: 1190 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1190 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188693	chr5:42940230-42940231	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373250079	chr5:42940244-42940245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182782394	chr5:42940264-42940265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530796174	chr5:42940297-42940298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187429122	chr5:42940299-42940300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142717047	chr5:42940300-42940301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16872962	chr5:42940303-42940304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146925161	chr5:42940306-42940307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550903718	chr5:42940312-42940313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193067876	chr5:42940354-42940355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6451659	chr5:42940368-42940369	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs113354646	chr5:42940389-42940390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185878564	chr5:42940394-42940395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576345695	chr5:42940398-42940399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111844491	chr5:42940423-42940424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6867941	chr5:42940431-42940432	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187569125	chr5:42940458-42940459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568041041	chr5:42940461-42940462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370318428	chr5:42940462-42940463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115587565	chr5:42940517-42940518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577990790	chr5:42940530-42940531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553821593	chr5:42940566-42940567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77091604	chr5:42940571-42940572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563638109	chr5:42940577-42940578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199753156	chr5:42940578-42940579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530835761	chr5:42940605-42940606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374590156	chr5:42940616-42940617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192559204	chr5:42940674-42940675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139706196	chr5:42940734-42940735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561178453	chr5:42940829-42940830	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs386687673	chr5:42940849-42940850	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546704590	chr5:42940852-42940853	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149474651	chr5:42940855-42940856	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538314476	chr5:42940857-42940858	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550172205	chr5:42940870-42940871	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144048254	chr5:42940935-42940936	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2548380	chr5:42940951-42940952	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs2603650	chr5:42940955-42940956	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs183797975	chr5:42940960-42940961	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557629079	chr5:42940967-42940968	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534882886	chr5:42941006-42941007	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148651505	chr5:42941009-42941010	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141741132	chr5:42941032-42941033	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545478423	chr5:42941040-42941041	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146284281	chr5:42941056-42941057	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575700304	chr5:42941064-42941065	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372973407	chr5:42941073-42941074	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542942532	chr5:42941084-42941085	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75655601	chr5:42941093-42941094	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576228593	chr5:42941162-42941163	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Bladder cancer	21909424	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:757 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42940200-42940400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:42940200-42940800	Enhancers	A549	lung
3	chr5:42940400-42941600	Enhancers	HepG2	liver
4	chr5:42940400-42948800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:42940600-42940800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:42940800-42941400	Flanking Active TSS	A549	lung
7	chr5:42940800-42944000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:42941400-42941800	Enhancers	A549	lung
9	chr5:42941400-42942200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:42941800-42942800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr5:42941800-42945200	Weak transcription	A549	lung
12	chr5:42943400-42943600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:42943400-42944200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
14	chr5:42943600-42943800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:42943600-42943800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:42943600-42943800	Active TSS	NH-A	brain
17	chr5:42943600-42943800	Enhancers	NHDF-Ad	bronchial
18	chr5:42943600-42943800	Enhancers	NHLF	lung
19	chr5:42943600-42943800	Enhancers	Osteobl	bone
20	chr5:42943600-42944000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:42943600-42944600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:42943600-42944800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:42943800-42944000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:42943800-42944000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:42943800-42944000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr5:42943800-42944000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr5:42943800-42944000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:42943800-42944000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:42943800-42944000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:42943800-42944000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
31	chr5:42943800-42944000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:42943800-42944000	Enhancers	Adipose Nuclei	Adipose
33	chr5:42943800-42944000	Bivalent Enhancer	Brain Anterior Caudate	brain
34	chr5:42943800-42944000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr5:42943800-42944000	Flanking Active TSS	NH-A	brain
36	chr5:42943800-42944000	Flanking Active TSS	NHDF-Ad	bronchial
37	chr5:42943800-42944200	Bivalent Enhancer	Brain Angular Gyrus	brain
38	chr5:42943800-42944200	Bivalent Enhancer	Colon Smooth Muscle	Colon
39	chr5:42943800-42944400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr5:42943800-42944400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
41	chr5:42943800-42944400	Bivalent Enhancer	Brain Substantia Nigra	brain
42	chr5:42943800-42944600	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr5:42943800-42944600	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr5:42943800-42944600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:42943800-42944600	Bivalent Enhancer	Fetal Stomach	stomach
46	chr5:42943800-42944600	Flanking Active TSS	NHLF	lung
47	chr5:42943800-42944800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:42943800-42944800	Flanking Active TSS	Osteobl	bone
49	chr5:42944000-42944200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
50	chr5:42944000-42944200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell

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