Variant report

Variant	rs58223751
Chromosome Location	chr18:43978732-43978733
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	chr18:43912407..43914434-chr18:43977281..43979544,2	MCF-7	breast:
2	chr18:43978606..43980174-chr18:43980566..43982099,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141622	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12606026	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12607371	0.80[EUR][1000 genomes]
rs12607970	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12608433	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12956369	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12963221	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12965332	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16978558	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16978559	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34026934	0.80[EUR][1000 genomes]
rs34046291	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34139708	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34271155	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34311565	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34472213	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34656919	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34960770	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35025356	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35044751	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35897092	0.82[ASN][1000 genomes]
rs35939778	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36020946	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3889942	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57027858	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58843633	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9635947	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3326438	chr18:43974654-43980152	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3405384	chr18:43975654-43980052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3419380	chr18:43976554-43979652	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv14178	chr18:43977083-43978888	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3317399	chr18:43977290-43979181	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3317400	chr18:43977290-43979181	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43964400-43980800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr18:43967800-43981000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:43968000-43980000	Weak transcription	Brain Germinal Matrix	brain
4	chr18:43968800-43981400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:43969200-43985200	Weak transcription	Right Atrium	heart
6	chr18:43970000-43979200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr18:43972200-43979200	Weak transcription	Fetal Brain Male	brain
8	chr18:43973600-43991400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:43974200-43990400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:43974600-43979000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:43974600-43980000	Weak transcription	Left Ventricle	heart
12	chr18:43975200-43983400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr18:43975600-43978800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr18:43976400-43980000	Weak transcription	Fetal Brain Female	brain
15	chr18:43976600-43981000	Enhancers	Fetal Muscle Trunk	muscle
16	chr18:43977000-43979000	Enhancers	Adipose Nuclei	Adipose
17	chr18:43977000-43983200	Enhancers	Fetal Muscle Leg	muscle
18	chr18:43977200-43978800	Enhancers	GM12878-XiMat	blood
19	chr18:43977200-43983000	Weak transcription	Psoas Muscle	Psoas
20	chr18:43977800-43979200	Enhancers	Fetal Heart	heart
21	chr18:43978000-43980600	Enhancers	Right Ventricle	heart
22	chr18:43978200-43978800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr18:43978200-43981000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:43978200-43982800	Weak transcription	Fetal Lung	lung
25	chr18:43978400-43978800	Strong transcription	Fetal Stomach	stomach
26	chr18:43978400-43978800	Weak transcription	K562	blood
27	chr18:43978400-43979600	Weak transcription	Fetal Thymus	thymus
28	chr18:43978400-43980000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr18:43978400-43980200	Enhancers	Spleen	Spleen
30	chr18:43978400-43981000	Weak transcription	Lung	lung
31	chr18:43978400-43982800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr18:43978600-43978800	Enhancers	Stomach Smooth Muscle	stomach
33	chr18:43978600-43979400	Enhancers	Placenta	Placenta
34	chr18:43978600-43985200	Weak transcription	Esophagus	oesophagus

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