Variant report

Variant	rs17533489
Chromosome Location	chr4:100518283-100518284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100510941..100516504-chr4:100517458..100521970,4	K562	blood:
2	chr4:100513715..100518811-chr4:100519053..100522722,5	K562	blood:
3	chr4:100510715..100513886-chr4:100514964..100518319,3	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10516447	1.00[YRI][hapmap]
rs10516448	1.00[YRI][hapmap]
rs10516450	1.00[YRI][hapmap]
rs1491237	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1491244	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs1491245	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1491246	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17532992	1.00[YRI][hapmap]
rs17533020	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17533517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17600332	1.00[YRI][hapmap]
rs2035814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2035815	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2035816	0.93[AMR][1000 genomes]
rs2903202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41275715	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532823	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6832119	0.94[AFR][1000 genomes]
rs6832927	0.94[AFR][1000 genomes]
rs6837699	1.00[AFR][1000 genomes]
rs6842339	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6844547	0.88[AFR][1000 genomes]
rs6845301	0.88[AFR][1000 genomes]
rs745074	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs745075	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7668586	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7693865	0.94[AFR][1000 genomes]
rs7698547	0.94[AFR][1000 genomes];1.00[AMR][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	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr4:100507800-100533800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr4:100511400-100520800	Strong transcription	Duodenum Mucosa	Duodenum
3	chr4:100516200-100518800	Strong transcription	Fetal Intestine Large	intestine
4	chr4:100516400-100546200	Strong transcription	Liver	Liver
5	chr4:100516800-100521600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:100516800-100532000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:100517800-100518800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:100518000-100518800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:100518000-100518800	Strong transcription	HepG2	liver
10	chr4:100518000-100519000	Strong transcription	Fetal Intestine Small	intestine
11	chr4:100518200-100518600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr4:100518200-100519200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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