Variant report

Variant	rs12109968
Chromosome Location	chr5:118169172-118169173
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118156828..118159701-chr5:118169028..118171054,2	K562	blood:
2	chr5:118163411..118166198-chr5:118168201..118170026,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12108713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12109512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12109542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12109733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12109982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12109987	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12109992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1366457	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473231	0.84[ASN][1000 genomes]
rs1510969	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144664	1.00[ASN][1000 genomes]
rs17144680	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144684	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144687	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144711	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144732	1.00[ASN][1000 genomes]
rs17144744	1.00[ASN][1000 genomes]
rs17144795	0.92[ASN][1000 genomes]
rs17144813	0.92[ASN][1000 genomes]
rs17144840	0.92[EUR][1000 genomes]
rs17164564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161348	0.96[EUR][1000 genomes]
rs28550966	0.96[EUR][1000 genomes]
rs34164145	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56292256	0.88[EUR][1000 genomes]
rs72784022	0.91[AFR][1000 genomes];1.00[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	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118143400-118178200	Weak transcription	Left Ventricle	heart
2	chr5:118158200-118176400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:118158400-118169200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:118160200-118171600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:118160200-118178200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:118160200-118180200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:118161600-118174600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:118161600-118175600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:118167800-118170800	Weak transcription	Psoas Muscle	Psoas
10	chr5:118167800-118186400	Weak transcription	Liver	Liver
11	chr5:118168000-118171400	Weak transcription	Ovary	ovary
12	chr5:118168400-118169600	Enhancers	GM12878-XiMat	blood

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