Variant report

Variant	rs34374598
Chromosome Location	chr5:42553231-42553232
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	chr5:42545086..42547088-chr5:42551708..42554423,2	MCF-7	breast:
2	chr5:42553184..42555973-chr5:42557554..42559637,2	K562	blood:

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

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

rs_ID	r²[population]
rs10941578	0.93[EUR][1000 genomes]
rs10941579	0.91[EUR][1000 genomes]
rs11739444	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740415	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949751	0.90[EUR][1000 genomes]
rs11955075	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516901	0.91[EUR][1000 genomes]
rs12521020	0.91[EUR][1000 genomes]
rs13176410	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28943881	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs34466913	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs34535288	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34895721	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35090794	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4365846	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4368736	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4395642	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496716	0.83[EUR][1000 genomes]
rs4504390	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs55696942	0.90[EUR][1000 genomes]
rs61197005	0.88[EUR][1000 genomes]
rs6865492	0.95[EUR][1000 genomes]
rs6896667	0.83[EUR][1000 genomes]
rs7707913	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712701	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714392	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735889	0.92[EUR][1000 genomes]
rs7736209	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42546400-42553800	Enhancers	Adipose Nuclei	Adipose
2	chr5:42549600-42554400	Weak transcription	Fetal Lung	lung
3	chr5:42549600-42561400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:42549800-42553600	Enhancers	Psoas Muscle	Psoas
5	chr5:42550800-42554200	Enhancers	Right Ventricle	heart
6	chr5:42551000-42553600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr5:42551000-42553800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr5:42551400-42555200	Weak transcription	Fetal Heart	heart
9	chr5:42552000-42553600	Enhancers	Ovary	ovary
10	chr5:42552400-42562200	Weak transcription	Right Atrium	heart
11	chr5:42552800-42553600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:42553000-42553800	Enhancers	Aorta	Aorta
13	chr5:42553000-42554200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:42553200-42553600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:42553200-42553600	Enhancers	Left Ventricle	heart
16	chr5:42553200-42553800	Flanking Active TSS	Liver	Liver
17	chr5:42553200-42553800	Enhancers	Fetal Intestine Large	intestine

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