Variant report

Variant	rs10133386
Chromosome Location	chr14:103824001-103824002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:103821519..103824408-chr14:103850595..103853885,3	K562	blood:
2	chr14:103822657..103824377-chr14:103851274..103853889,2	MCF-7	breast:
3	chr14:103819385..103824278-chr14:103849291..103854654,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075413	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10132290	1.00[AMR][1000 genomes]
rs10135716	1.00[AMR][1000 genomes]
rs10138651	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138842	1.00[AMR][1000 genomes]
rs10141919	1.00[AMR][1000 genomes]
rs10145990	1.00[AMR][1000 genomes]
rs10146864	1.00[AMR][1000 genomes]
rs10147675	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148672	1.00[AMR][1000 genomes]
rs10151314	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11851727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13379294	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13379421	1.00[AMR][1000 genomes]
rs28631776	1.00[AMR][1000 genomes]
rs35273920	1.00[AMR][1000 genomes]
rs35586956	1.00[AMR][1000 genomes]
rs56134485	1.00[AMR][1000 genomes]
rs56305318	1.00[AMR][1000 genomes]
rs59330484	1.00[AMR][1000 genomes]
rs59988848	1.00[AMR][1000 genomes]
rs60236703	1.00[AMR][1000 genomes]
rs61651942	1.00[AMR][1000 genomes]
rs73353049	1.00[AMR][1000 genomes]
rs73359944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8022746	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042714	chr14:103085298-103860730	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
3	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
4	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103821000-103825200	Enhancers	NHEK	skin
2	chr14:103822400-103824400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:103822400-103826800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:103822600-103824400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:103822600-103827000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:103822600-103828200	Weak transcription	A549	lung
7	chr14:103822800-103824200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:103822800-103824200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:103822800-103824200	Weak transcription	HMEC	breast
10	chr14:103822800-103824400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:103822800-103824400	Enhancers	K562	blood
12	chr14:103822800-103824600	Enhancers	NHLF	lung
13	chr14:103822800-103828200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:103822800-103828200	Weak transcription	Dnd41	blood
15	chr14:103823000-103827600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr14:103823000-103827800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr14:103823400-103824200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:103823400-103824600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:103823600-103826400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:103823800-103826600	Weak transcription	HepG2	liver
21	chr14:103823800-103827000	Weak transcription	Hela-S3	cervix
22	chr14:103823800-103828000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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