Variant report

Variant	rs12085220
Chromosome Location	chr1:185594435-185594436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10911760	1.00[AFR][1000 genomes]
rs10911774	1.00[AFR][1000 genomes]
rs10911777	1.00[AFR][1000 genomes]
rs12064776	1.00[AFR][1000 genomes]
rs12092575	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9783082	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3350575	chr1:185580344-185614213	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185588400-185601400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:185593200-185594600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:185593800-185596000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:185593800-185596000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:185594000-185595000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:185594000-185596600	Enhancers	Placenta	Placenta
7	chr1:185594200-185594800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:185594200-185594800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:185594200-185595000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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