Variant report

Variant	rs57849401
Chromosome Location	chr12:67030559-67030560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12310597	0.80[EUR][1000 genomes]
rs12316662	0.80[EUR][1000 genomes]
rs56134325	0.93[AFR][1000 genomes]
rs56188466	0.80[EUR][1000 genomes]
rs56307984	0.86[EUR][1000 genomes]
rs73127184	0.93[AFR][1000 genomes]
rs7968342	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv469461	chr12:67007070-67038595	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv559208	chr12:67007070-67038595	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67023400-67033000	Weak transcription	Fetal Kidney	kidney
2	chr12:67029200-67040000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:67030000-67030600	Enhancers	Colon Smooth Muscle	Colon
4	chr12:67030000-67030800	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr12:67030000-67031800	Enhancers	Adipose Nuclei	Adipose
6	chr12:67030200-67030600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr12:67030200-67030600	Enhancers	HSMMtube	muscle
8	chr12:67030200-67031200	Enhancers	Fetal Brain Male	brain
9	chr12:67030200-67031800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:67030200-67032800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:67030400-67030800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:67030400-67031000	Enhancers	Left Ventricle	heart
13	chr12:67030400-67031000	Enhancers	Pancreas	Pancrea

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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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