Variant report

Variant	rs73002412
Chromosome Location	chr1:76766533-76766534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76758604..76761482-chr1:76764775..76767017,2	K562	blood:

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

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

rs_ID	r²[population]
rs2035611	1.00[AMR][1000 genomes]
rs4353143	1.00[AMR][1000 genomes]
rs57964070	0.89[AFR][1000 genomes]
rs58266418	1.00[AMR][1000 genomes]
rs72998539	1.00[AMR][1000 genomes]
rs72998547	1.00[AMR][1000 genomes]
rs72998553	1.00[AMR][1000 genomes]
rs72998571	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998579	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998584	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998597	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73000416	1.00[AMR][1000 genomes]
rs73000483	1.00[AMR][1000 genomes]
rs73002405	1.00[AMR][1000 genomes]
rs73002414	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73004241	1.00[AMR][1000 genomes]
rs73006152	1.00[AMR][1000 genomes]
rs73006167	1.00[AMR][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	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76755800-76783000	Weak transcription	Fetal Lung	lung
2	chr1:76759800-76766600	Weak transcription	Brain Substantia Nigra	brain
3	chr1:76760400-76779200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:76761200-76768200	Enhancers	Primary T cells from cord blood	blood
5	chr1:76763200-76767600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:76763800-76767000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:76763800-76768600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr1:76764000-76769000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:76764000-76769200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr1:76764000-76769600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:76764200-76768200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr1:76764600-76766600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr1:76764600-76767800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:76764800-76768400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:76765000-76767200	Enhancers	Fetal Heart	heart
16	chr1:76765000-76769400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:76765200-76766800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:76765200-76775400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:76766000-76766600	Enhancers	Fetal Thymus	thymus
20	chr1:76766200-76766800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:76766400-76766800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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