Variant report

Variant	rs12037199
Chromosome Location	chr1:184957255-184957256
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000116668	Chromatin interaction
ENSG00000116679	Chromatin interaction
ENSG00000121486	Chromatin interaction
ENSG00000273004	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10489582	1.00[EUR][1000 genomes]
rs12023631	0.92[ASN][1000 genomes]
rs12024255	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12026308	1.00[EUR][1000 genomes]
rs12033761	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12038977	1.00[EUR][1000 genomes]
rs12041641	1.00[EUR][1000 genomes]
rs12045533	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16823734	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16823739	1.00[EUR][1000 genomes]
rs2025228	1.00[EUR][1000 genomes]
rs2144664	1.00[EUR][1000 genomes]
rs41377350	1.00[EUR][1000 genomes]
rs57266144	1.00[EUR][1000 genomes]
rs61379702	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61537994	1.00[EUR][1000 genomes]
rs7540216	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1012048	chr1:184913958-184959967	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184951400-184959400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:184956600-184957600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr1:184956600-184958000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:184956600-184958000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:184956800-184958000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:184956800-184958000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:184957200-184957400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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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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