Variant report

Variant	rs73128632
Chromosome Location	chr1:223051986-223051987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17163519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2378614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28834670	1.00[EUR][1000 genomes]
rs34080450	0.90[AFR][1000 genomes]
rs73126884	1.00[EUR][1000 genomes]
rs73126893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73126902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128611	1.00[EUR][1000 genomes]
rs73128618	1.00[EUR][1000 genomes]
rs73128629	1.00[EUR][1000 genomes]
rs73128633	1.00[EUR][1000 genomes]
rs73128635	1.00[EUR][1000 genomes]
rs73128639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128643	1.00[EUR][1000 genomes]
rs73128645	1.00[EUR][1000 genomes]
rs73128668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128682	1.00[EUR][1000 genomes]
rs73128692	1.00[EUR][1000 genomes]
rs73130611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription 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 target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:223029800-223066800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:223035000-223054000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:223046600-223064200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:223048600-223054200	Weak transcription	Fetal Intestine Small	intestine
5	chr1:223051000-223052600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:223051200-223052000	Enhancers	Brain Substantia Nigra	brain
7	chr1:223051200-223052600	Enhancers	Rectal Smooth Muscle	rectum
8	chr1:223051400-223052200	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr1:223051400-223052600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:223051400-223052800	Enhancers	Colon Smooth Muscle	Colon
11	chr1:223051600-223052400	Enhancers	HepG2	liver
12	chr1:223051600-223070600	Weak transcription	Small Intestine	intestine
13	chr1:223051800-223052800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:223051800-223066000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:223051800-223070000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:223051800-223070000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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