Variant report

Variant	rs7004579
Chromosome Location	chr8:125953439-125953440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10097995	1.00[EUR][1000 genomes]
rs1365690	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900168	1.00[EUR][1000 genomes]
rs4870930	0.86[MEX][hapmap]
rs4871557	0.86[MEX][hapmap]
rs4871559	0.80[MEX][hapmap]
rs4871566	0.93[MEX][hapmap]
rs6470293	0.93[MEX][hapmap]
rs6470317	0.80[MEX][hapmap]
rs7387254	0.80[MEX][hapmap]
rs7813655	0.88[AMR][1000 genomes]
rs7820918	1.00[EUR][1000 genomes]
rs7833872	0.93[MEX][hapmap];0.88[AMR][1000 genomes]
rs9987227	0.86[MEX][hapmap]

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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125949200-125954000	Weak transcription	Left Ventricle	heart
2	chr8:125950000-125954200	Weak transcription	Right Ventricle	heart
3	chr8:125950000-125958200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:125950200-125954200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:125951800-125954600	Enhancers	Brain Germinal Matrix	brain
6	chr8:125952600-125954000	Weak transcription	K562	blood
7	chr8:125953000-125954400	Enhancers	Fetal Brain Female	brain
8	chr8:125953200-125954200	Enhancers	Fetal Lung	lung
9	chr8:125953200-125955600	Enhancers	Fetal Heart	heart
10	chr8:125953400-125953800	Enhancers	HSMMtube	muscle
11	chr8:125953400-125954400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:125953400-125954400	Enhancers	Fetal Brain Male	brain

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

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