Variant report

Variant	rs12588653
Chromosome Location	chr14:70716966-70716967
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]
rs12590427	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1593376	0.87[ASN][1000 genomes]
rs2162125	1.00[ASN][1000 genomes]
rs2296918	0.96[ASN][1000 genomes]
rs4899340	0.98[ASN][1000 genomes]
rs4902794	1.00[ASN][1000 genomes]
rs59398189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59507789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61654805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61740021	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61745654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7149733	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153452	1.00[ASN][1000 genomes]
rs73280734	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280744	1.00[EUR][1000 genomes];0.96[ASN][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	nsv832826	chr14:70559589-70723464	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70697400-70719400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:70701800-70721200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:70712600-70721000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:70716600-70717200	Enhancers	Primary hematopoietic stem cells	blood
5	chr14:70716600-70717400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:70716600-70717600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:70716800-70717800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:70716800-70718000	Enhancers	H1 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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