Variant report

Variant	rs1505680
Chromosome Location	chr4:62197770-62197771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17090431	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6818172	0.89[YRI][hapmap]
rs6826967	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs73216306	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216313	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216315	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73216328	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7698359	0.91[AFR][1000 genomes];1.00[AMR][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	nsv879075	chr4:62124531-62354791	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv461376	chr4:62187646-62274626	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv594327	chr4:62187646-62274626	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv3325937	chr4:62196057-62199355	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3452093	chr4:62196607-62199205	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62186600-62202800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:62190200-62200600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:62194000-62202000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:62194800-62200600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:62196200-62198400	Weak transcription	Fetal Lung	lung

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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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