Variant report

Variant	rs712083
Chromosome Location	chr1:224727289-224727290
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1989305	1.00[AMR][1000 genomes]
rs4654044	1.00[AMR][1000 genomes]
rs712067	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712077	1.00[AMR][1000 genomes]
rs712078	1.00[AMR][1000 genomes]
rs712091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224694200-224727600	Weak transcription	Brain Anterior Caudate	brain
2	chr1:224712000-224730800	Weak transcription	Spleen	Spleen
3	chr1:224717600-224727800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:224720400-224727400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:224725200-224730400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:224726800-224732400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:224727200-224727400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:224727200-224727400	Enhancers	Pancreas	Pancrea
9	chr1:224727200-224727600	Flanking Active TSS	NHDF-Ad	bronchial
10	chr1:224727200-224727800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:224727200-224728200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:224727200-224728200	Enhancers	Fetal Thymus	thymus
13	chr1:224727200-224728400	Flanking Active TSS	Dnd41	blood
14	chr1:224727200-224729800	Enhancers	NH-A	brain
15	chr1:224727200-224731600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:224727200-224731600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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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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