Variant report

Variant	rs56223983
Chromosome Location	chr14:81814754-81814755
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1006405	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10450894	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10450939	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10450940	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11621378	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435764	0.84[EUR][1000 genomes]
rs12436146	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2012796	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28818872	0.96[EUR][1000 genomes]
rs55921727	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55991247	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56161464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59969857	0.84[EUR][1000 genomes]
rs61560331	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61986593	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61986597	0.85[EUR][1000 genomes]
rs61986598	0.83[EUR][1000 genomes]
rs61986599	0.84[EUR][1000 genomes]
rs6574646	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6574647	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs68143923	0.95[EUR][1000 genomes]
rs7146802	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7147254	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7151434	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7153469	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72703728	0.80[EUR][1000 genomes]
rs8007219	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8008024	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8009083	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8009171	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8010181	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8011477	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011609	0.87[EUR][1000 genomes]
rs8011624	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8016255	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020575	0.83[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	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81803800-81832200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:81804200-81820000	Weak transcription	K562	blood
3	chr14:81808000-81820600	Weak transcription	Fetal Kidney	kidney
4	chr14:81808400-81829200	Weak transcription	HMEC	breast
5	chr14:81808600-81820200	Weak transcription	NHEK	skin
6	chr14:81808800-81830200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:81809400-81817600	Weak transcription	Brain Anterior Caudate	brain
8	chr14:81811800-81818800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:81811800-81821000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:81812200-81820000	Weak transcription	Psoas Muscle	Psoas
11	chr14:81813000-81815800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:81813400-81829800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:81814000-81814800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr14:81814200-81814800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:81814200-81815000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:81814600-81815000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:81814600-81815200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr14:81814600-81816600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:81814600-81821200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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