Variant report

Variant	nsv586281
Chromosome Location	chr20:52765349-52771171
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:140)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:140 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr20:52715778..52716806-chr20:52765023..52766341,13	MCF-7	breast:
2	chr20:52765360..52765921-chr20:55837760..55838820,3	MCF-7	breast:
3	chr20:49343643..49344527-chr20:52765356..52766275,9	MCF-7	breast:
4	chr20:52724187..52724972-chr20:52765344..52766235,2	MCF-7	breast:
5	chr20:52718746..52719361-chr20:52765699..52766209,2	MCF-7	breast:
6	chr20:52720353..52721347-chr20:52765343..52766302,16	MCF-7	breast:
7	chr20:52739714..52741315-chr20:52765202..52766341,36	MCF-7	breast:
8	chr20:52769773..52772486-chr20:52904523..52906497,2	MCF-7	breast:
9	chr20:52720353..52721343-chr20:52765343..52766302,5	MCF-7	breast:
10	chr20:52765675..52766267-chr3:61793285..61793911,2	MCF-7	breast:
11	chr20:52768122..52769040-chr20:52811641..52812560,3	MCF-7	breast:
12	chr20:52743247..52744381-chr20:52765148..52766346,109	MCF-7	breast:
13	chr20:52765420..52766267-chr3:61793285..61794037,3	MCF-7	breast:
14	chr20:52224532..52225159-chr20:52765348..52766166,2	MCF-7	breast:
15	chr17:56735044..56737972-chr20:52763206..52766874,4	MCF-7	breast:
16	chr20:52765702..52767695-chr20:52867432..52869251,2	MCF-7	breast:
17	chr20:52765146..52765883-chr3:61793158..61794130,2	MCF-7	breast:
18	chr20:52765182..52766890-chr20:52811098..52812679,34	MCF-7	breast:
19	chr20:52701305..52702094-chr20:52765727..52766247,2	MCF-7	breast:
20	chr20:52731963..52732914-chr20:52765695..52766299,2	MCF-7	breast:
21	chr17:59484836..59487609-chr20:52766414..52769329,2	MCF-7	breast:
22	chr20:52765499..52766221-chr3:64598795..64599626,3	MCF-7	breast:
23	chr20:52765608..52766203-chr20:52813377..52814070,2	MCF-7	breast:
24	chr10:61594823..61595369-chr20:52765425..52766238,2	MCF-7	breast:
25	chr20:52763448..52765793-chr20:55839476..55841287,2	MCF-7	breast:
26	chr20:52740259..52740856-chr20:52768240..52768937,2	MCF-7	breast:
27	chr1:116184607..116186215-chr20:52763883..52765833,2	MCF-7	breast:
28	chr20:49380313..49381331-chr20:52765364..52766289,7	MCF-7	breast:
29	chr20:52224532..52225329-chr20:52765348..52766166,4	MCF-7	breast:
30	chr20:52766754..52768697-chr8:144820849..144823437,2	MCF-7	breast:
31	chr20:52764971..52766731-chr20:52811022..52812911,766	MCF-7	breast:
32	chr12:114833601..114834101-chr20:52765377..52766183,2	MCF-7	breast:
33	chr20:52703317..52704188-chr20:52765410..52766248,3	MCF-7	breast:
34	chr17:59800131..59801317-chr20:52765395..52766291,6	MCF-7	breast:
35	chr20:49343643..49344493-chr20:52765356..52766275,6	MCF-7	breast:
36	chr20:52743021..52744541-chr20:52765021..52766396,99	MCF-7	breast:
37	chr20:52765356..52766316-chr20:52812052..52812624,3	MCF-7	breast:
38	chr20:52765406..52766301-chr3:64563800..64564318,2	MCF-7	breast:
39	chr20:52765013..52767443-chr20:55839272..55842153,3	MCF-7	breast:
40	chr1:112055772..112056731-chr20:52765685..52766299,2	MCF-7	breast:
41	chr20:52768988..52769787-chr20:52779061..52780220,3	MCF-7	breast:
42	chr17:56716658..56718401-chr20:52765233..52766626,125	MCF-7	breast:
43	chr11:79064642..79065268-chr20:52765531..52766169,2	MCF-7	breast:
44	chr20:52739465..52740961-chr20:52765012..52766665,338	MCF-7	breast:
45	chr1:178749990..178750895-chr20:52764971..52765894,2	MCF-7	breast:
46	chr20:41007695..41010681-chr20:52764867..52766401,2	MCF-7	breast:
47	chr20:52747406..52750042-chr20:52765504..52767989,2	K562	blood:
48	chr20:52596205..52597011-chr20:52765364..52765924,2	MCF-7	breast:
49	chr20:52715770..52716680-chr20:52765375..52766276,3	MCF-7	breast:
50	chr20:52765761..52766290-chr20:52913080..52913871,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CYP24A1	hsa-miR-26b-5p	chr20:52770528-52770547

Variant related genes	Relation type
ENSG00000101138	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000203499	chromatin interactions
ENSG00000179743	chromatin interactions
ENSG00000087586	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000235415	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000266826	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000091136	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000173218	chromatin interactions

Extended variants
information (count: 216 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4809955	chr20:52765349-52765350	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6097799	chr20:52765430-52765431	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs545857298	chr20:52765441-52765442	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs574394874	chr20:52765442-52765443	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs4809956	chr20:52765472-52765473	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs151164040	chr20:52765569-52765570	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs576505847	chr20:52765571-52765572	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs6097800	chr20:52765604-52765605	Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs6022985	chr20:52765613-52765614	Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531769787	chr20:52765622-52765623	Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs548865088	chr20:52765623-52765624	Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs562218301	chr20:52765656-52765657	Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs527702294	chr20:52765692-52765693	Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs139111609	chr20:52765712-52765713	Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs370358504	chr20:52765721-52765722	Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs570985796	chr20:52765749-52765750	Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs113257291	chr20:52765836-52765837	Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs191935662	chr20:52765843-52765844	Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs6022986	chr20:52765870-52765871	Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs6064051	chr20:52765877-52765878	Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs537599326	chr20:52765880-52765881	Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs550704917	chr20:52765894-52765895	Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs554863031	chr20:52765905-52765906	Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs568246773	chr20:52765923-52765924	Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs147923363	chr20:52765935-52765936	Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs16999037	chr20:52765979-52765980	Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs78801370	chr20:52766066-52766067	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs35749422	chr20:52766070-52766071	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs2762928	chr20:52766085-52766086	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs374525168	chr20:52766089-52766090	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs376351912	chr20:52766090-52766091	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs576599624	chr20:52766108-52766109	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs183726030	chr20:52766171-52766172	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs2762929	chr20:52766195-52766196	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs570543380	chr20:52766220-52766221	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs188959937	chr20:52766238-52766239	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs541487671	chr20:52766246-52766247	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs66870448	chr20:52766340-52766341	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141757936	chr20:52766349-52766350	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs8118441	chr20:52766385-52766386	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs570017670	chr20:52766408-52766409	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs531565789	chr20:52766416-52766417	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs548056967	chr20:52766459-52766460	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs533280184	chr20:52766513-52766514	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs547029794	chr20:52766518-52766519	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs146030482	chr20:52766519-52766520	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs568387566	chr20:52766528-52766529	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs147104141	chr20:52766580-52766581	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs539424010	chr20:52766599-52766600	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs570115524	chr20:52766625-52766626	Weak transcription Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myelodysplastic syndrome	21251322	CNVD
Ductal carcinoma	22052326	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Ovarian cancer	22174824	CNVD
Lung cancer	16740712	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16620391	CNVD
Okamoto syndrome	17623483	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cervical cancer	16585170	CNVD
Ovarian cancer	20844748	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20459607	CNVD
Gastric cancer	18160780	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52758600-52768800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:52759000-52765400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr20:52762400-52765400	Enhancers	A549	lung
4	chr20:52764800-52766400	Enhancers	HepG2	liver
5	chr20:52764800-52766600	Enhancers	Hela-S3	cervix
6	chr20:52765400-52765600	Flanking Active TSS	A549	lung
7	chr20:52765400-52765800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:52765400-52766400	Enhancers	Fetal Intestine Large	intestine
9	chr20:52765400-52766600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr20:52765600-52766000	Enhancers	A549	lung
11	chr20:52765600-52766000	Enhancers	NHEK	skin
12	chr20:52765600-52766400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr20:52765600-52766400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr20:52765800-52766400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr20:52765800-52766400	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr20:52765800-52768400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr20:52766000-52766800	Flanking Active TSS	A549	lung
18	chr20:52766000-52768800	Weak transcription	NHEK	skin
19	chr20:52766200-52766400	Bivalent Enhancer	Small Intestine	intestine
20	chr20:52766400-52768600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr20:52766400-52768800	Weak transcription	HepG2	liver
22	chr20:52766800-52768600	Enhancers	A549	lung
23	chr20:52767000-52768000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr20:52768000-52768200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
25	chr20:52768200-52769400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr20:52768400-52768800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr20:52768400-52769800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr20:52768600-52768800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr20:52768600-52768800	Genic enhancers	A549	lung
30	chr20:52768600-52768800	Enhancers	Osteobl	bone
31	chr20:52768600-52769000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr20:52768600-52769200	Enhancers	Esophagus	oesophagus
33	chr20:52768600-52769800	Enhancers	HMEC	breast
34	chr20:52768800-52769000	Flanking Active TSS	Osteobl	bone
35	chr20:52768800-52769200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr20:52768800-52769400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr20:52768800-52769400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr20:52768800-52769400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr20:52768800-52769400	Flanking Active TSS	NHEK	skin
40	chr20:52768800-52769600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr20:52768800-52769800	Enhancers	HepG2	liver
42	chr20:52768800-52790200	Transcr. at gene 5' and 3'	A549	lung
43	chr20:52769000-52769200	Active TSS	Osteobl	bone
44	chr20:52769000-52769400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr20:52769000-52769400	Enhancers	Left Ventricle	heart
46	chr20:52769000-52769600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr20:52769000-52769800	Enhancers	Placenta	Placenta
48	chr20:52769200-52769400	Flanking Active TSS	Osteobl	bone
49	chr20:52769200-52769600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr20:52769200-52789400	Weak transcription	Esophagus	oesophagus

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