Variant report

Variant	rs10454898
Chromosome Location	chr5:80816961-80816962
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80812504..80815105-chr5:80816670..80818298,2	K562	blood:
2	chr5:80812937..80815009-chr5:80816402..80819126,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10036712	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10042303	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12153000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188888	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2972228	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2972230	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972232	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2972244	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2972245	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2973341	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2973343	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2973350	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34414290	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6452416	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6878037	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7733938	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9293275	0.84[ASN][1000 genomes]
rs964102	0.84[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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80779000-80830200	Weak transcription	Primary B cells from cord blood	blood
2	chr5:80779000-80834400	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:80797000-80834000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:80798200-80818000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:80798400-80820000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:80798400-80821400	Weak transcription	Thymus	Thymus
7	chr5:80798600-80826600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:80802000-80819600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:80802600-80819800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:80803200-80834400	Weak transcription	Fetal Kidney	kidney
11	chr5:80803200-80835200	Weak transcription	GM12878-XiMat	blood
12	chr5:80803600-80875200	Weak transcription	Fetal Brain Female	brain
13	chr5:80808600-80818600	Weak transcription	Fetal Thymus	thymus
14	chr5:80809600-80820200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:80809800-80820000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:80812400-80826600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:80812400-80829200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:80812600-80821400	Weak transcription	HSMM	muscle
19	chr5:80813600-80818400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:80815200-80817000	Enhancers	Dnd41	blood
21	chr5:80815600-80821400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:80816600-80820200	Enhancers	Pancreatic Islets	Pancreatic Islet

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