Variant report

Variant	rs4870878
Chromosome Location	chr8:124945736-124945737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124942199..124944103-chr8:124945407..124947140,2	K562	blood:
2	chr8:124934471..124936352-chr8:124945543..124948252,2	K562	blood:
3	chr8:124938106..124940433-chr8:124943541..124946021,2	MCF-7	breast:
4	chr8:124934852..124937473-chr8:124945543..124947894,2	K562	blood:

Variant related genes	Relation type
ENSG00000254000	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1007106	0.93[ASN][1000 genomes]
rs11993828	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13250190	0.93[ASN][1000 genomes]
rs13260673	0.93[ASN][1000 genomes]
rs13267281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268486	0.93[ASN][1000 genomes]
rs16899052	0.93[ASN][1000 genomes]
rs16899082	0.93[ASN][1000 genomes]
rs16899083	0.93[ASN][1000 genomes]
rs34273310	0.93[ASN][1000 genomes]
rs34895349	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35365805	0.92[ASN][1000 genomes]
rs35856179	0.93[ASN][1000 genomes]
rs36044469	0.92[ASN][1000 genomes]
rs4242350	0.92[ASN][1000 genomes]
rs4242351	0.92[ASN][1000 genomes]
rs4285467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4285468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4299983	0.93[ASN][1000 genomes]
rs4299984	0.93[ASN][1000 genomes]
rs4410887	0.93[ASN][1000 genomes]
rs4413758	0.92[ASN][1000 genomes]
rs4428656	0.88[ASN][1000 genomes]
rs4472497	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4478556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4492357	0.92[ASN][1000 genomes]
rs4512365	0.93[ASN][1000 genomes]
rs4537289	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4587311	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4587312	0.92[ASN][1000 genomes]
rs4590427	0.93[ASN][1000 genomes]
rs4870879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871428	0.92[ASN][1000 genomes]
rs4871429	0.92[ASN][1000 genomes]
rs4871430	0.92[ASN][1000 genomes]
rs4871431	0.93[ASN][1000 genomes]
rs4871432	0.93[ASN][1000 genomes]
rs4871433	0.93[ASN][1000 genomes]
rs4871434	0.93[ASN][1000 genomes]
rs4871435	0.93[ASN][1000 genomes]
rs4871436	0.93[ASN][1000 genomes]
rs4871437	0.93[ASN][1000 genomes]
rs4871439	0.93[ASN][1000 genomes]
rs55653196	0.93[ASN][1000 genomes]
rs55921480	0.93[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs57615673	0.90[ASN][1000 genomes]
rs59381180	0.92[ASN][1000 genomes]
rs62518695	0.93[ASN][1000 genomes]
rs62518696	0.93[ASN][1000 genomes]
rs62518727	0.93[ASN][1000 genomes]
rs62518728	0.93[ASN][1000 genomes]
rs6982351	0.93[ASN][1000 genomes]
rs6984557	0.93[ASN][1000 genomes]
rs72709124	0.86[ASN][1000 genomes]
rs7464664	0.92[ASN][1000 genomes]
rs746745	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs746746	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs746747	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7826291	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7838437	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7838453	0.91[ASN][1000 genomes]
rs7838473	0.93[ASN][1000 genomes]
rs7839327	0.93[ASN][1000 genomes]
rs7842762	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033617	chr8:124895516-125012783	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1035035	chr8:124895516-125020472	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv612141	chr8:124895809-125006490	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv612142	chr8:124896389-125006490	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv612143	chr8:124927711-124988267	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1020971	chr8:124939571-124973679	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124944000-124945800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:124944000-124947800	Weak transcription	Stomach Mucosa	stomach
3	chr8:124944200-124948200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:124945600-124945800	Enhancers	Fetal Heart	heart

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