Variant report

Variant	rs72702285
Chromosome Location	chr1:155080579-155080580
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155079725..155081338-chr1:155087375..155089361,2	MCF-7	breast:
2	chr1:155077810..155080770-chr1:155145258..155147385,2	MCF-7	breast:
3	chr1:155057125..155058757-chr1:155079445..155081096,2	MCF-7	breast:
4	chr1:155079915..155080852-chr1:155139903..155140634,4	MCF-7	breast:
5	chr1:155023645..155026194-chr1:155080276..155083021,2	K562	blood:
6	chr1:155078523..155080864-chr1:155090492..155093049,2	K562	blood:
7	chr1:155073800..155076765-chr1:155079525..155082285,4	MCF-7	breast:
8	chr1:155072871..155075853-chr1:155078675..155081266,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143590	Chromatin interaction
ENSG00000163463	Chromatin interaction
ENSG00000202027	Chromatin interaction
ENSG00000163462	Chromatin interaction
ENSG00000143537	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10908457	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11264324	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11264325	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11264326	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12081692	1.00[EUR][1000 genomes]
rs12126992	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13375955	1.00[EUR][1000 genomes]
rs1462854	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28670060	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57157364	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58925616	0.94[EUR][1000 genomes]
rs66474937	0.98[EUR][1000 genomes]
rs67333363	0.90[EUR][1000 genomes]
rs72702273	0.90[EUR][1000 genomes]
rs72702288	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72702293	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73001391	1.00[EUR][1000 genomes]
rs7517158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7517162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7548383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv872455	chr1:155003954-155106550	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv998756	chr1:155080090-155136545	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155077200-155081800	Enhancers	Fetal Intestine Small	intestine
2	chr1:155077400-155081400	Enhancers	Fetal Intestine Large	intestine
3	chr1:155078600-155080800	Weak transcription	Placenta	Placenta
4	chr1:155078600-155090200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:155078600-155098400	Weak transcription	Right Atrium	heart
6	chr1:155079600-155080600	Enhancers	Stomach Mucosa	stomach
7	chr1:155079600-155081000	Enhancers	Duodenum Mucosa	Duodenum
8	chr1:155080200-155080600	Flanking Active TSS	Liver	Liver
9	chr1:155080400-155081200	Enhancers	HepG2	liver
10	chr1:155080400-155081800	Weak transcription	Lung	lung

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