Variant report

Variant	rs6470316
Chromosome Location	chr8:125902221-125902222
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: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	chr8:125900915..125903416-chr8:125906634..125910674,4	K562	blood:
2	chr8:125900299..125904105-chr8:125905303..125908707,4	MCF-7	breast:
3	chr8:125900667..125902302-chr8:125902732..125904411,2	MCF-7	breast:
4	chr8:125901791..125903358-chr8:125908573..125910554,2	K562	blood:
5	chr8:125550619..125552268-chr8:125900750..125903343,2	MCF-7	breast:
6	chr8:125893623..125896589-chr8:125899803..125902568,2	MCF-7	breast:
7	chr8:125545642..125547249-chr8:125900302..125903286,2	MCF-7	breast:
8	chr8:125863185..125866167-chr8:125900364..125902687,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147687	Chromatin interaction
ENSG00000147684	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10956221	0.84[AMR][1000 genomes]
rs11987831	0.92[AMR][1000 genomes]
rs12681718	0.82[CHB][hapmap];0.90[AMR][1000 genomes]
rs13252227	0.90[AMR][1000 genomes]
rs4870929	0.82[CHB][hapmap]
rs4870930	0.81[CHB][hapmap]
rs4871557	0.81[CHB][hapmap]
rs4871559	0.81[CHB][hapmap]
rs4871561	0.81[CHB][hapmap];0.90[AMR][1000 genomes]
rs4871566	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4871567	0.81[CHB][hapmap]
rs6470293	0.81[CHB][hapmap]
rs6470295	0.92[AMR][1000 genomes]
rs6470297	0.82[CHB][hapmap];0.92[AMR][1000 genomes]
rs6470299	0.88[AMR][1000 genomes]
rs6470301	0.88[AMR][1000 genomes]
rs6470304	0.96[AMR][1000 genomes]
rs6470310	1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6470312	0.98[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6470315	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6470317	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6470318	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7011950	1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7016723	0.88[AMR][1000 genomes]
rs7387254	1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7388465	1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7461228	0.90[AMR][1000 genomes]
rs7463183	0.88[AMR][1000 genomes]
rs7464601	0.90[AMR][1000 genomes]
rs7464910	0.84[AMR][1000 genomes]
rs7819873	1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7820706	1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7820918	0.84[AMR][1000 genomes]
rs7821070	0.81[AMR][1000 genomes]
rs7834577	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7845589	0.88[AMR][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 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	chr8:125900000-125903200	Enhancers	HMEC	breast
2	chr8:125900200-125902400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:125900200-125902400	Enhancers	NHEK	skin
4	chr8:125900200-125902600	Enhancers	Esophagus	oesophagus
5	chr8:125900200-125903000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:125900200-125903200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:125900600-125903200	Weak transcription	Right Atrium	heart
8	chr8:125901600-125906000	Weak transcription	K562	blood
9	chr8:125901800-125902800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:125902200-125903000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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