Variant report

Variant	rs6470318
Chromosome Location	chr8:125903222-125903223
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

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125900915..125903416-chr8:125906634..125910674,4	K562	blood:
2	chr8:125900299..125904105-chr8:125905303..125908707,4	MCF-7	breast:
3	chr8:125826377..125828891-chr8:125902425..125904376,2	K562	blood:
4	chr8:125903181..125907429-chr8:125925929..125929993,4	K562	blood:
5	chr8:125901791..125903358-chr8:125908573..125910554,2	K562	blood:
6	chr8:125550619..125552268-chr8:125900750..125903343,2	MCF-7	breast:
7	chr8:125900667..125902302-chr8:125902732..125904411,2	MCF-7	breast:
8	chr8:125545642..125547249-chr8:125900302..125903286,2	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11987831	0.82[AMR][1000 genomes]
rs12681718	0.84[AMR][1000 genomes]
rs13252227	0.81[AMR][1000 genomes]
rs4871561	0.84[AMR][1000 genomes]
rs4871566	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6470295	0.82[AMR][1000 genomes]
rs6470297	0.82[AMR][1000 genomes]
rs6470299	0.83[AMR][1000 genomes]
rs6470301	0.83[AMR][1000 genomes]
rs6470304	0.86[AMR][1000 genomes]
rs6470310	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6470312	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6470315	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6470316	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6470317	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7011950	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7016723	0.83[AMR][1000 genomes]
rs7387254	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7388465	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7461228	0.81[AMR][1000 genomes]
rs7463183	0.83[AMR][1000 genomes]
rs7464601	0.81[AMR][1000 genomes]
rs7819873	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7820706	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7834577	0.92[AMR][1000 genomes];1.00[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	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
5	nsv527372	chr8:125902415-125905658	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125901600-125906000	Weak transcription	K562	blood
2	chr8:125902800-125905000	Weak transcription	Left Ventricle	heart
3	chr8:125903000-125905600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:125903000-125907800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:125903000-125908000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:125903000-125908000	Weak transcription	NHEK	skin
7	chr8:125903000-125908200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:125903000-125911000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:125903200-125908400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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