Variant report

Variant	rs73912618
Chromosome Location	chr20:52738341-52738342
allele	A/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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:64384319..64386677-chr20:52737059..52738607,2	MCF-7	breast:
2	chr17:57913131..57926939-chr20:52735776..52751538,42	MCF-7	breast:
3	chr12:88974229..88976516-chr20:52738104..52740254,2	MCF-7	breast:
4	chr20:45984111..45986428-chr20:52738221..52740326,2	MCF-7	breast:
5	chr20:52209317..52211049-chr20:52738296..52740504,2	MCF-7	breast:
6	chr14:69261742..69264202-chr20:52737833..52740709,2	MCF-7	breast:
7	chr20:46704284..46707013-chr20:52736934..52742122,6	MCF-7	breast:
8	chr17:57913208..57918053-chr20:52738316..52741830,5	MCF-7	breast:
9	chr20:52736945..52738908-chr20:55839090..55840893,2	MCF-7	breast:
10	chr20:52738322..52739999-chr3:64085915..64088568,2	MCF-7	breast:
11	chr17:56856602..56858649-chr20:52736908..52739674,2	MCF-7	breast:
12	chr17:59476041..59479959-chr20:52736191..52740630,8	MCF-7	breast:
13	chr20:52721636..52723251-chr20:52738132..52740436,2	K562	blood:
14	chr2:61697261..61699327-chr20:52736867..52739442,2	MCF-7	breast:
15	chr20:46410772..46417533-chr20:52734712..52743268,16	MCF-7	breast:
16	chr17:57919381..57925904-chr20:52733643..52740812,10	MCF-7	breast:
17	chr17:56704127..56711907-chr20:52729106..52752952,70	MCF-7	breast:
18	chr17:56706370..56714481-chr20:52725604..52746501,43	MCF-7	breast:
19	chr17:56735072..56739506-chr20:52736262..52741999,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171940	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000115464	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000270820	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000049130	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000252850	Chromatin interaction
ENSG00000266826	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6097800	1.00[AMR][1000 genomes]
rs61730999	1.00[AMR][1000 genomes]
rs73912629	1.00[AMR][1000 genomes]

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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52725000-52740200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:52732000-52739400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:52732200-52739400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:52732400-52738800	Enhancers	HepG2	liver
5	chr20:52733000-52738800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr20:52733000-52739400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr20:52733400-52738600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr20:52733400-52739800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr20:52736800-52738800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr20:52737000-52738400	Enhancers	A549	lung
11	chr20:52737600-52742200	Enhancers	HMEC	breast
12	chr20:52737600-52742400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr20:52737800-52741600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:52738000-52739600	Enhancers	Hela-S3	cervix
15	chr20:52738000-52740400	Enhancers	NHEK	skin
16	chr20:52738000-52740600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr20:52738000-52740800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr20:52738000-52741200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr20:52738000-52741200	Enhancers	Placenta	Placenta
20	chr20:52738200-52738400	Enhancers	HSMMtube	muscle
21	chr20:52738200-52740600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr20:52738200-52740600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr20:52738200-52740600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr20:52738200-52740600	Enhancers	NHDF-Ad	bronchial
25	chr20:52738200-52740600	Enhancers	NHLF	lung
26	chr20:52738200-52740600	Enhancers	Osteobl	bone
27	chr20:52738200-52740800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr20:52738200-52741000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr20:52738200-52741000	Enhancers	NH-A	brain
30	chr20:52738200-52741200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr20:52738200-52741800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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