Variant report

Variant	rs72683101
Chromosome Location	chr8:103623940-103623941
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103622288..103624110-chr8:103624252..103626001,2	MCF-7	breast:
2	chr8:103622599..103625908-chr8:103664442..103667918,3	MCF-7	breast:
3	chr8:103622636..103626514-chr8:103628433..103631339,3	K562	blood:
4	chr8:103622538..103626629-chr8:103626817..103631339,6	K562	blood:
5	chr8:103622570..103626040-chr8:103626583..103631374,6	MCF-7	breast:
6	chr8:103623532..103635312-chr8:103817499..103824242,24	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction
ENSG00000155090	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10955288	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12546601	1.00[AFR][1000 genomes]
rs12547574	0.83[AFR][1000 genomes]
rs12674646	0.83[AFR][1000 genomes]
rs12674767	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12680598	0.83[AFR][1000 genomes]
rs1318752	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16869664	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2053128	0.89[ASN][1000 genomes]
rs2388192	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35509459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55750587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55814340	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56398883	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60320584	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72683098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72683100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72683102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685103	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72685104	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72685109	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72685110	0.83[AFR][1000 genomes]
rs72685118	0.83[AFR][1000 genomes]
rs72685123	0.83[AFR][1000 genomes]
rs72685128	0.83[AFR][1000 genomes]
rs73276720	1.00[AFR][1000 genomes]
rs9642791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9642792	0.89[ASN][1000 genomes]
rs9642979	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs980112	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103621800-103624400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:103622400-103624000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:103622400-103624400	Weak transcription	HSMM	muscle
4	chr8:103622400-103624600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:103622400-103626000	Weak transcription	K562	blood
6	chr8:103622600-103624400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:103622800-103626000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:103622800-103628600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:103622800-103646400	Weak transcription	Psoas Muscle	Psoas
10	chr8:103623000-103624000	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:103623600-103626600	Enhancers	Placenta	Placenta
12	chr8:103623600-103627200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:103623800-103630400	Enhancers	Primary B cells from cord blood	blood

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