Variant report

Variant	rs7749348
Chromosome Location	chr6:127451817-127451818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6904065	1.00[AMR][1000 genomes]
rs6911725	1.00[AMR][1000 genomes]
rs6936212	1.00[AMR][1000 genomes]
rs6942082	1.00[AMR][1000 genomes]
rs7771652	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024206	chr6:126873187-127475713	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538438	chr6:126873187-127475713	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127442800-127456800	Weak transcription	Psoas Muscle	Psoas
2	chr6:127443000-127452200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:127447200-127452000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:127449600-127453000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:127449600-127453200	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:127450200-127452000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:127450400-127453600	Enhancers	Adipose Nuclei	Adipose
8	chr6:127450600-127452600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:127451200-127452200	Enhancers	A549	lung
10	chr6:127451800-127455800	Enhancers	Fetal Lung	lung

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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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