Variant report

Variant	rs530579713
Chromosome Location	chr20:52720019-52720020
allele	C/G
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:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52719655..52720664-chr20:53263098..53264661,7	MCF-7	breast:
2	chr20:52719936..52720994-chr20:52815851..52816435,3	K562	blood:
3	chr20:52718236..52723040-chr20:52810797..52817780,169	MCF-7	breast:
4	chr20:52719452..52720637-chr20:52810871..52812940,11	MCF-7	breast:
5	chr17:56706304..56710637-chr20:52708902..52722942,22	MCF-7	breast:
6	chr20:52718652..52720166-chr3:12597603..12600058,2	MCF-7	breast:
7	chr20:52718018..52720477-chr8:101320363..101322308,2	MCF-7	breast:
8	chr20:46294406..46296720-chr20:52718393..52720596,2	MCF-7	breast:
9	chr20:52719617..52720591-chr20:52808400..52809287,2	MCF-7	breast:
10	chr17:57921397..57924347-chr20:52716590..52720160,4	MCF-7	breast:
11	chr20:46410730..46421216-chr20:52711028..52724253,28	MCF-7	breast:
12	chr19:34268579..34269432-chr20:52719698..52720625,2	MCF-7	breast:
13	chr12:5205178..5205947-chr20:52719696..52720558,2	MCF-7	breast:
14	chr20:52718541..52720185-chr20:52811223..52812435,5	MCF-7	breast:
15	chr20:52719730..52720372-chr20:52809181..52810139,2	MCF-7	breast:
16	chr15:72765795..72766555-chr20:52719666..52720170,2	MCF-7	breast:
17	chr17:57914067..57916662-chr20:52718746..52720834,2	MCF-7	breast:
18	chr20:52718473..52720185-chr20:52811223..52812490,9	MCF-7	breast:
19	chr20:52719607..52720196-chr20:53263139..53264090,2	K562	blood:
20	chr20:52719672..52720540-chr20:52778220..52779096,2	MCF-7	breast:
21	chr17:57859882..57862542-chr20:52718438..52720258,2	MCF-7	breast:
22	chr20:52719656..52720194-chr7:1703958..1704885,2	MCF-7	breast:
23	chr20:52719698..52720606-chr20:52825591..52826191,3	MCF-7	breast:
24	chr16:626188..627113-chr20:52719567..52720167,2	MCF-7	breast:
25	chr20:52719704..52720659-chr20:53262955..53264259,5	MCF-7	breast:
26	chr20:46415094..46415857-chr20:52719914..52720888,3	MCF-7	breast:
27	chr20:52718858..52721683-chr20:52813902..52815240,37	MCF-7	breast:
28	chr20:52701238..52701958-chr20:52719706..52720239,2	MCF-7	breast:
29	chr17:56735120..56739266-chr20:52717504..52723217,7	MCF-7	breast:
30	chr17:58114056..58114922-chr20:52719703..52720409,2	MCF-7	breast:
31	chr20:46413674..46416590-chr20:52720007..52722158,2	MCF-7	breast:
32	chr20:52719757..52720375-chr20:52789285..52789943,2	MCF-7	breast:
33	chr20:52719648..52721333-chr20:52815742..52817223,22	MCF-7	breast:
34	chr20:52719650..52721026-chr20:52823754..52824804,13	MCF-7	breast:
35	chr17:57924197..57927092-chr20:52718696..52721514,3	MCF-7	breast:
36	chr17:57969091..57971172-chr20:52719133..52720803,2	MCF-7	breast:
37	chr20:52719433..52720183-chr20:52814161..52815155,3	MCF-7	breast:
38	chr20:52719804..52720546-chr20:52738673..52740127,5	MCF-7	breast:
39	chr17:56703018..56712407-chr20:52697460..52725685,93	MCF-7	breast:
40	chr17:57081984..57082856-chr20:52719792..52720584,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000202077	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000101132	Chromatin interaction
ENSG00000034677	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000267637	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000266826	Chromatin interaction
ENSG00000075975	Chromatin interaction
ENSG00000108423	Chromatin interaction
ENSG00000108443	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv586280	chr20:52718555-52758416	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52714000-52721200	Weak transcription	HMEC	breast
2	chr20:52714000-52721800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:52718000-52720200	Enhancers	Placenta	Placenta
4	chr20:52718800-52721200	Weak transcription	NHEK	skin
5	chr20:52719000-52723800	Enhancers	Liver	Liver
6	chr20:52719200-52720400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr20:52719400-52724000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr20:52719600-52721800	Enhancers	A549	lung
9	chr20:52719800-52720200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr20:52719800-52720400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr20:52719800-52720400	Enhancers	Osteobl	bone
12	chr20:52719800-52721200	Enhancers	Fetal Intestine Large	intestine
13	chr20:52719800-52721200	Flanking Active TSS	HepG2	liver
14	chr20:52720000-52720200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr20:52720000-52720400	Enhancers	Esophagus	oesophagus
16	chr20:52720000-52720400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr20:52720000-52721200	Enhancers	Duodenum Mucosa	Duodenum
18	chr20:52720000-52724200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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