Variant report

Variant	rs4574588
Chromosome Location	chr5:111888948-111888949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111887607..111889700-chr5:111892241..111894417,2	K562	blood:
2	chr5:111887498..111890102-chr5:112044744..112046649,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11740414	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11745418	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11748780	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13154524	0.81[ASN][1000 genomes]
rs1422541	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1445934	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1445935	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs163456	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs338843	0.80[EUR][1000 genomes]
rs338854	0.82[AMR][1000 genomes]
rs338863	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs338864	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs338867	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs338869	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs338873	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap]
rs401722	0.80[EUR][1000 genomes]
rs430143	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs437318	0.80[EUR][1000 genomes]
rs4376316	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7443518	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv882715	chr5:111836278-111894491	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv882716	chr5:111848890-111894491	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr5:111884400-111890200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:111885000-111889800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:111886400-111891800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:111886600-111889000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:111887000-111889800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:111887400-111889000	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:111887400-111889000	Enhancers	Brain Substantia Nigra	brain
8	chr5:111887600-111889800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:111887600-111890200	Weak transcription	Fetal Brain Female	brain
10	chr5:111887800-111890800	Weak transcription	Fetal Heart	heart
11	chr5:111888000-111889600	Weak transcription	Adipose Nuclei	Adipose
12	chr5:111888000-111889600	Weak transcription	Brain Germinal Matrix	brain
13	chr5:111888000-111891200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:111888200-111889600	Weak transcription	Brain Anterior Caudate	brain
15	chr5:111888400-111889400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:111888600-111889000	Enhancers	Fetal Stomach	stomach
17	chr5:111888800-111889600	Weak transcription	Brain Angular Gyrus	brain
18	chr5:111888800-111889600	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:111888800-111889800	Weak transcription	Brain Hippocampus Middle	brain

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