Variant report

Variant	rs6421839
Chromosome Location	chr5:111888352-111888353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:111886306..111888838-chr5:111889426..111891005,2	K562	blood:
2	chr5:111887607..111889700-chr5:111892241..111894417,2	K562	blood:
3	chr5:111887498..111890102-chr5:112044744..112046649,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10040932	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10055490	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13163826	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs163445	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs163447	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs338860	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs338861	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs338862	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs338865	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs338866	0.82[ASN][1000 genomes]
rs338868	0.89[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3934641	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58167369	0.83[AMR][1000 genomes]
rs6421840	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6421841	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6421842	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6421843	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6594608	0.89[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6594609	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6594610	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6594611	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6594612	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7443366	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7446737	0.82[ASN][1000 genomes]
rs7449028	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7702372	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7708839	0.81[ASN][1000 genomes]
rs7711803	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7721904	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7723866	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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:22 , 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	chr5:111887400-111888600	Enhancers	HepG2	liver
7	chr5:111887400-111888800	Enhancers	Fetal Intestine Small	intestine
8	chr5:111887400-111889000	Enhancers	Brain Cingulate Gyrus	brain
9	chr5:111887400-111889000	Enhancers	Brain Substantia Nigra	brain
10	chr5:111887600-111888400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr5:111887600-111888400	Enhancers	Fetal Intestine Large	intestine
12	chr5:111887600-111888800	Enhancers	Brain Hippocampus Middle	brain
13	chr5:111887600-111888800	Enhancers	Fetal Muscle Leg	muscle
14	chr5:111887600-111889800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:111887600-111890200	Weak transcription	Fetal Brain Female	brain
16	chr5:111887800-111890800	Weak transcription	Fetal Heart	heart
17	chr5:111888000-111888600	Weak transcription	Brain Angular Gyrus	brain
18	chr5:111888000-111889600	Weak transcription	Adipose Nuclei	Adipose
19	chr5:111888000-111889600	Weak transcription	Brain Germinal Matrix	brain
20	chr5:111888000-111891200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr5:111888200-111888600	Weak transcription	Fetal Stomach	stomach
22	chr5:111888200-111889600	Weak transcription	Brain Anterior Caudate	brain

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