Variant report

Variant	rs2953651
Chromosome Location	chr1:227561273-227561274
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10916132	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10916134	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12030548	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3014257	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3014258	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3014268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3014270	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761380	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72761392	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7529685	0.86[AMR][1000 genomes]
rs7546896	0.86[AMR][1000 genomes];0.82[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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr1:227545800-227571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:227557200-227565400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:227558600-227565400	Weak transcription	HSMMtube	muscle
4	chr1:227558600-227565600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:227559000-227565800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:227560000-227565200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:227560000-227565400	Weak transcription	K562	blood
8	chr1:227560600-227565400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:227561000-227565200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:227561200-227565400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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