Variant report

Variant	rs541082
Chromosome Location	chr1:93478944-93478945
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2928182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2992964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs487317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs693562	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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr1:93474200-93479000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:93474200-93490600	Weak transcription	K562	blood
3	chr1:93478000-93479000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:93478000-93479600	Enhancers	GM12878-XiMat	blood
5	chr1:93478200-93481400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr1:93478200-93481600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr1:93478200-93482600	Enhancers	Fetal Muscle Leg	muscle
8	chr1:93478400-93479600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:93478400-93479600	Weak transcription	Fetal Thymus	thymus
10	chr1:93478800-93480200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:93478800-93480400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:93478800-93480800	Enhancers	Psoas Muscle	Psoas
13	chr1:93478800-93482400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:93478800-93482400	Enhancers	HSMMtube	muscle

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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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