Variant report

Variant	nsv912946
Chromosome Location	chr20:52758416-52772741
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:161)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:161 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr20:52596205..52597011-chr20:52765364..52765924,2	MCF-7	breast:
2	chr20:52743021..52744541-chr20:52765021..52766396,99	MCF-7	breast:
3	chr20:52765258..52766191-chr20:52811713..52812860,8	MCF-7	breast:
4	chr20:52739905..52740841-chr20:52768331..52768949,5	MCF-7	breast:
5	chr20:52771990..52772801-chr20:52812053..52812659,2	MCF-7	breast:
6	chr20:52765406..52766301-chr3:64563800..64564318,2	MCF-7	breast:
7	chr20:52765302..52765883-chr3:64476876..64477385,2	MCF-7	breast:
8	chr20:52739714..52741315-chr20:52765202..52766341,36	MCF-7	breast:
9	chr17:56707980..56710863-chr20:52758916..52761865,4	MCF-7	breast:
10	chr14:50053219..50054072-chr20:52758417..52759334,2	MCF-7	breast:
11	chr20:52765064..52766063-chr20:52814244..52815054,2	MCF-7	breast:
12	chr20:52703317..52704240-chr20:52765410..52766285,3	MCF-7	breast:
13	chr20:52765274..52766299-chr20:55837767..55838761,6	MCF-7	breast:
14	chr20:52765346..52766284-chr20:52810960..52812568,13	MCF-7	breast:
15	chr20:52724187..52724972-chr20:52765344..52766235,2	MCF-7	breast:
16	chr20:45946579..45948783-chr20:52760451..52762848,2	MCF-7	breast:
17	chr17:56716658..56718401-chr20:52765233..52766626,125	MCF-7	breast:
18	chr20:52771221..52772175-chr20:55683922..55684551,2	MCF-7	breast:
19	chr14:95288063..95290182-chr20:52767433..52769417,2	MCF-7	breast:
20	chr20:52748821..52749601-chr20:52765286..52765999,2	MCF-7	breast:
21	chr20:52701305..52702094-chr20:52765727..52766247,2	MCF-7	breast:
22	chr17:56706368..56709577-chr20:52768047..52771187,3	MCF-7	breast:
23	chr20:52739738..52741068-chr20:52764992..52766400,210	MCF-7	breast:
24	chr20:47481025..47481946-chr20:52765386..52766208,6	MCF-7	breast:
25	chr20:52224532..52225159-chr20:52765348..52766166,2	MCF-7	breast:
26	chr1:16161756..16162662-chr20:52765346..52766321,2	Hela-S3	cervix:
27	chr2:28789364..28790287-chr20:52761151..52762142,2	MCF-7	breast:
28	chr20:52421541..52422373-chr20:52765421..52765961,2	MCF-7	breast:
29	chr20:52720206..52720853-chr20:52765402..52766295,3	MCF-7	breast:
30	chr20:52765300..52766232-chr20:52803775..52804625,4	MCF-7	breast:
31	chr20:52701305..52702013-chr20:52765578..52766227,2	MCF-7	breast:
32	chr20:52765685..52766234-chr3:64042063..64042860,2	MCF-7	breast:
33	chr20:52747406..52750042-chr20:52765504..52767989,2	K562	blood:
34	chr11:79064642..79065268-chr20:52765531..52766169,2	MCF-7	breast:
35	chr20:52715778..52716806-chr20:52765023..52766341,13	MCF-7	breast:
36	chr17:59489837..59492539-chr20:52768488..52770171,2	MCF-7	breast:
37	chr20:52765378..52765954-chr20:52813444..52814379,4	MCF-7	breast:
38	chr20:52769915..52770509-chr20:52876789..52877482,2	MCF-7	breast:
39	chr20:52756212..52758727-chr20:55838230..55840160,2	MCF-7	breast:
40	chr20:52765302..52766219-chr20:52784081..52784986,2	MCF-7	breast:
41	chr20:52739042..52740781-chr20:52765292..52766226,10	MCF-7	breast:
42	chr20:52768122..52769040-chr20:52811641..52812560,3	MCF-7	breast:
43	chr20:47481025..47481886-chr20:52765424..52766208,3	MCF-7	breast:
44	chr17:56716690..56718038-chr20:52765233..52766444,54	MCF-7	breast:
45	chr20:45973741..45974624-chr20:52765376..52766129,2	MCF-7	breast:
46	chr20:49343643..49344527-chr20:52765356..52766275,9	MCF-7	breast:
47	chr20:52701441..52702056-chr20:52765306..52765991,2	MCF-7	breast:
48	chr20:52224570..52225410-chr20:52765349..52765883,2	MCF-7	breast:
49	chr17:56735424..56738028-chr20:52767765..52769885,2	MCF-7	breast:
50	chr20:52211908..52215151-chr20:52766884..52771883,4	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CYP24A1	hsa-miR-125b-5p	chr20:52771264-52771285
2	CYP24A1	hsa-miR-26b-5p	chr20:52770528-52770547

Variant related genes	Relation type
ENSG00000108443	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000157240	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000198518	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000087586	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000266826	chromatin interactions
ENSG00000203499	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000101138	chromatin interactions
ENSG00000267882	chromatin interactions
ENSG00000235415	chromatin interactions
ENSG00000173218	chromatin interactions
ENSG00000179743	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000247137	chromatin interactions
ENSG00000258486	chromatin interactions
ENSG00000137494	chromatin interactions
ENSG00000091136	chromatin interactions

Extended variants
information (count: 538 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:538 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6068809	chr20:52758416-52758417	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570818165	chr20:52758438-52758439	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs142976548	chr20:52758445-52758446	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs147466387	chr20:52758446-52758447	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs376569924	chr20:52758494-52758495	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs2585412	chr20:52758649-52758650	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs138312101	chr20:52758684-52758685	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs554726210	chr20:52758694-52758695	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs574689910	chr20:52758746-52758747	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs534083576	chr20:52758752-52758753	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs546154549	chr20:52758753-52758754	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs564903458	chr20:52758766-52758767	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs576430912	chr20:52758767-52758768	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs192756920	chr20:52758788-52758789	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs527237564	chr20:52758789-52758790	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs562257247	chr20:52758815-52758816	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs575718265	chr20:52758821-52758822	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs541164303	chr20:52758822-52758823	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs542049109	chr20:52758913-52758914	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs562307505	chr20:52758914-52758915	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs2762925	chr20:52758929-52758930	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548079623	chr20:52758946-52758947	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs534436759	chr20:52758975-52758976	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs143900646	chr20:52758976-52758977	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs533387437	chr20:52758997-52758998	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs873216	chr20:52759006-52759007	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs570190652	chr20:52759007-52759008	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs535949331	chr20:52759013-52759014	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs183718825	chr20:52759077-52759078	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs144289097	chr20:52759081-52759082	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs533699814	chr20:52759094-52759095	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs554053797	chr20:52759186-52759187	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs8124440	chr20:52759197-52759198	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs148654315	chr20:52759199-52759200	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs555719792	chr20:52759210-52759211	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs575780621	chr20:52759245-52759246	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs563444167	chr20:52759278-52759279	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs549172334	chr20:52759290-52759291	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs561590566	chr20:52759313-52759314	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs572604527	chr20:52759381-52759382	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs541238374	chr20:52759469-52759470	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs142190128	chr20:52759487-52759488	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533644068	chr20:52759517-52759518	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs75762834	chr20:52759547-52759548	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs563663937	chr20:52759559-52759560	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs529262802	chr20:52759606-52759607	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs6091821	chr20:52759628-52759629	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs368491670	chr20:52759697-52759698	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs566009495	chr20:52759724-52759725	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs527494974	chr20:52759745-52759746	Weak transcription	Chromatin interactive region	2 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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52755600-52758600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr20:52755600-52758600	Enhancers	NH-A	brain
3	chr20:52755600-52758800	Enhancers	HMEC	breast
4	chr20:52755600-52759000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:52756000-52758600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:52757200-52758600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr20:52758000-52758600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr20:52758000-52759000	ZNF genes & repeats	A549	lung
9	chr20:52758000-52764200	Weak transcription	NHLF	lung
10	chr20:52758200-52758600	ZNF genes & repeats	Placenta	Placenta
11	chr20:52758200-52758800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr20:52758400-52759600	Enhancers	Fetal Muscle Trunk	muscle
13	chr20:52758600-52759000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:52758600-52759000	Enhancers	Fetal Muscle Leg	muscle
15	chr20:52758600-52768800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:52759000-52759200	Weak transcription	Fetal Muscle Leg	muscle
17	chr20:52759000-52762400	Weak transcription	A549	lung
18	chr20:52759000-52765400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr20:52759200-52759600	Enhancers	Fetal Muscle Leg	muscle
20	chr20:52759600-52760800	Weak transcription	Fetal Muscle Leg	muscle
21	chr20:52760800-52761000	Enhancers	Fetal Muscle Leg	muscle
22	chr20:52762400-52765400	Enhancers	A549	lung
23	chr20:52764800-52766400	Enhancers	HepG2	liver
24	chr20:52764800-52766600	Enhancers	Hela-S3	cervix
25	chr20:52765400-52765600	Flanking Active TSS	A549	lung
26	chr20:52765400-52765800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr20:52765400-52766400	Enhancers	Fetal Intestine Large	intestine
28	chr20:52765400-52766600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr20:52765600-52766000	Enhancers	A549	lung
30	chr20:52765600-52766000	Enhancers	NHEK	skin
31	chr20:52765600-52766400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr20:52765600-52766400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr20:52765800-52766400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr20:52765800-52766400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr20:52765800-52768400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr20:52766000-52766800	Flanking Active TSS	A549	lung
37	chr20:52766000-52768800	Weak transcription	NHEK	skin
38	chr20:52766200-52766400	Bivalent Enhancer	Small Intestine	intestine
39	chr20:52766400-52768600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr20:52766400-52768800	Weak transcription	HepG2	liver
41	chr20:52766800-52768600	Enhancers	A549	lung
42	chr20:52767000-52768000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr20:52768000-52768200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
44	chr20:52768200-52769400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr20:52768400-52768800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr20:52768400-52769800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr20:52768600-52768800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr20:52768600-52768800	Genic enhancers	A549	lung
49	chr20:52768600-52768800	Enhancers	Osteobl	bone
50	chr20:52768600-52769000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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