Variant report

Variant	rs2484697
Chromosome Location	chr1:221094718-221094719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2050525	0.81[EUR][1000 genomes]
rs2784253	0.81[EUR][1000 genomes]
rs2784255	0.81[EUR][1000 genomes]
rs2784270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2784271	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs2784272	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs2784274	0.82[EUR][1000 genomes]
rs2807863	0.81[EUR][1000 genomes]
rs2807865	0.81[EUR][1000 genomes]
rs2807867	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2807869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7542375	0.92[ASN][1000 genomes]
rs945448	0.82[EUR][1000 genomes]
rs949839	0.81[EUR][1000 genomes]
rs949840	0.81[EUR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr1:221089000-221096200	Weak transcription	Spleen	Spleen
2	chr1:221089200-221094800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:221089200-221095400	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:221092800-221095200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:221093400-221095200	Enhancers	Liver	Liver
6	chr1:221093600-221095400	Enhancers	HepG2	liver
7	chr1:221093800-221097000	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:221094200-221097200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:221094400-221099200	Weak transcription	Psoas Muscle	Psoas
10	chr1:221094600-221096600	Enhancers	HUES64 Cell Line	embryonic stem cell

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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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