Variant report

Variant	rs57715170
Chromosome Location	chr7:128066106-128066107
allele	C/T
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128045147..128050080-chr7:128061541..128066850,10	MCF-7	breast:
2	chr7:128035982..128041518-chr7:128062564..128068284,7	MCF-7	breast:
3	chr7:128065135..128067914-chr7:128098635..128100685,2	K562	blood:
4	chr7:128065959..128066518-chr7:128101125..128101678,2	K562	blood:
5	chr7:128044223..128046200-chr7:128065399..128067060,2	MCF-7	breast:
6	chr7:128038309..128039271-chr7:128065515..128066612,14	MCF-7	breast:
7	chr7:128065568..128066529-chr7:128099108..128100221,4	K562	blood:
8	chr7:128050107..128052046-chr7:128063361..128066207,2	MCF-7	breast:
9	chr7:128066083..128070069-chr7:128074107..128077404,7	MCF-7	breast:
10	chr7:128065976..128066788-chr7:128098979..128099577,2	MCF-7	breast:
11	chr7:127987318..127988500-chr7:128065383..128066423,5	K562	blood:
12	chr7:128063888..128067571-chr7:128068051..128071487,5	MCF-7	breast:
13	chr7:128060108..128063097-chr7:128063704..128066560,3	K562	blood:
14	chr7:128044912..128048334-chr7:128062375..128066541,5	K562	blood:
15	chr7:127987691..127988308-chr7:128065542..128066256,3	MCF-7	breast:
16	chr7:128027409..128028270-chr7:128065556..128066474,2	K562	blood:
17	chr7:127987466..127988187-chr7:128065959..128066607,2	MCF-7	breast:
18	chr7:128038254..128039329-chr7:128065492..128067551,10	K562	blood:
19	chr7:128048374..128053724-chr7:128060919..128066147,7	K562	blood:
20	chr7:128026398..128027002-chr7:128065950..128066764,2	K562	blood:
21	chr7:128063091..128065550-chr7:128065722..128067520,2	K562	blood:
22	chr7:128038276..128039228-chr7:128065303..128066760,7	MCF-7	breast:
23	chr7:128020879..128021848-chr7:128065540..128066113,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106348	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1048531	0.90[AMR][1000 genomes]
rs10954185	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11763326	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11764599	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11766548	0.86[ASN][1000 genomes]
rs11766743	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11769087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769168	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11769333	0.86[ASN][1000 genomes]
rs11771063	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11771514	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532613	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12540060	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12540762	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1864232	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2288550	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2288554	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35501542	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3793164	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55706726	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57124454	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58727049	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62481099	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62481100	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62481103	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62481115	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62481116	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62481123	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62481124	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66511422	0.86[ASN][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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
2	chr7:128063000-128071600	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:128064000-128067400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:128064000-128067600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:128064200-128067600	Weak transcription	A549	lung
6	chr7:128064200-128070800	Weak transcription	Adipose Nuclei	Adipose
7	chr7:128064800-128067600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:128064800-128067600	Weak transcription	HepG2	liver
9	chr7:128065000-128067600	Weak transcription	Hela-S3	cervix
10	chr7:128065000-128067800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:128065400-128067400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:128065400-128067400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr7:128066000-128066200	Enhancers	Primary monocytes fromperipheralblood	blood

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