Variant report

Variant	rs2053128
Chromosome Location	chr8:103614835-103614836
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103613378..103615290-chr8:103763595..103765178,2	MCF-7	breast:
2	chr8:103605858..103620203-chr8:103816083..103827169,111	MCF-7	breast:
3	chr17:56734943..56737715-chr8:103614003..103616887,2	MCF-7	breast:
4	chr8:102503061..102505840-chr8:103613493..103615750,2	MCF-7	breast:
5	chr8:103613642..103617354-chr8:103617536..103621858,4	K562	blood:
6	chr7:27990095..27992843-chr8:103613526..103615268,2	MCF-7	breast:
7	chr8:103610633..103618537-chr8:103662081..103669570,24	MCF-7	breast:
8	chr8:103588260..103591760-chr8:103612435..103616119,7	MCF-7	breast:
9	chr8:103610502..103616206-chr8:103792660..103796842,13	MCF-7	breast:
10	chr13:42607470..42610336-chr8:103613588..103616105,2	MCF-7	breast:
11	chr8:103422674..103425478-chr8:103613269..103615408,3	MCF-7	breast:
12	chr8:103613145..103615412-chr8:103740896..103743488,3	MCF-7	breast:
13	chr8:103495758..103497650-chr8:103613429..103615117,2	MCF-7	breast:
14	chr8:103249682..103253435-chr8:103611734..103616089,6	MCF-7	breast:
15	chr8:102618432..102620239-chr8:103613397..103615204,2	MCF-7	breast:
16	chr8:103610542..103615201-chr8:103799392..103803025,12	MCF-7	breast:
17	chr8:103612645..103615158-chr8:103875756..103877314,2	MCF-7	breast:
18	chr8:103613879..103615577-chr8:103873601..103875436,2	MCF-7	breast:
19	chr8:103613738..103615729-chr8:103803530..103805618,2	MCF-7	breast:
20	chr8:103611739..103615321-chr8:103653896..103661701,12	MCF-7	breast:
21	chr8:103583555..103586428-chr8:103613292..103614892,2	MCF-7	breast:
22	chr8:103606751..103617128-chr8:103816392..103825354,41	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000048392	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10955288	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs12546601	0.91[CHB][hapmap]
rs12674767	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs1318752	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs16869664	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs16869676	0.91[CHB][hapmap]
rs16869695	0.87[CHB][hapmap]
rs2511718	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs2511752	1.00[CEU][hapmap]
rs35509459	0.91[ASN][1000 genomes]
rs55750587	0.89[ASN][1000 genomes]
rs56398883	0.87[ASN][1000 genomes]
rs60320584	0.81[ASN][1000 genomes]
rs72683098	0.91[ASN][1000 genomes]
rs72683100	0.91[ASN][1000 genomes]
rs72683101	0.89[ASN][1000 genomes]
rs72683102	0.89[ASN][1000 genomes]
rs72685103	0.87[ASN][1000 genomes]
rs72685104	0.87[ASN][1000 genomes]
rs9642791	0.91[ASN][1000 genomes]
rs9642979	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103613800-103616600	Enhancers	Placenta	Placenta
2	chr8:103614000-103615400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:103614200-103615400	Weak transcription	Fetal Intestine Large	intestine
4	chr8:103614200-103615400	Weak transcription	K562	blood
5	chr8:103614200-103615600	Weak transcription	Fetal Intestine Small	intestine
6	chr8:103614400-103615800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:103614800-103615800	Weak transcription	Liver	Liver
8	chr8:103614800-103615800	Weak transcription	Right Ventricle	heart

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