Variant report

Variant	rs712088
Chromosome Location	chr1:224732900-224732901
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13376387	1.00[TSI][hapmap]
rs1573088	1.00[MEX][hapmap]
rs2648740	1.00[EUR][1000 genomes]
rs2648741	1.00[EUR][1000 genomes]
rs2786561	1.00[EUR][1000 genomes]
rs56879180	1.00[EUR][1000 genomes]
rs60936981	1.00[EUR][1000 genomes]
rs61631299	1.00[EUR][1000 genomes]
rs712089	1.00[EUR][1000 genomes]
rs74146223	1.00[EUR][1000 genomes]
rs74146268	1.00[EUR][1000 genomes]
rs7512165	1.00[TSI][hapmap]

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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224729000-224733000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:224730800-224733400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:224731000-224733000	Enhancers	NHLF	lung
4	chr1:224731200-224733200	Enhancers	HUVEC	blood vessel
5	chr1:224731200-224733800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:224731600-224734000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:224731600-224734400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:224731600-224734600	Weak transcription	Pancreas	Pancrea
9	chr1:224731600-224746400	Weak transcription	Psoas Muscle	Psoas
10	chr1:224732400-224734600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:224732800-224733400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:224732800-224734000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:224732800-224734600	Weak transcription	HMEC	breast
14	chr1:224732800-224734800	Enhancers	NHDF-Ad	bronchial

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Input of quick search could be:

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

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