Variant report

Variant	rs2014133
Chromosome Location	chr3:119914483-119914484
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119913264..119914837-chr3:119917896..119920108,2	K562	blood:
2	chr3:119905802..119907944-chr3:119913665..119916564,2	MCF-7	breast:
3	chr3:119813885..119816034-chr3:119913009..119915303,2	MCF-7	breast:
4	chr3:119832637..119834179-chr3:119912112..119915097,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242622	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10049256	0.83[AMR][1000 genomes]
rs10934512	0.85[AFR][1000 genomes]
rs10934514	0.83[AMR][1000 genomes]
rs10934515	0.83[AMR][1000 genomes]
rs10934516	0.83[AMR][1000 genomes]
rs10934517	0.83[AMR][1000 genomes]
rs11707711	0.83[AFR][1000 genomes]
rs11915552	0.80[AMR][1000 genomes]
rs1352458	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1488761	0.85[AFR][1000 genomes]
rs1488762	0.85[AFR][1000 genomes]
rs1488764	0.85[AFR][1000 genomes]
rs1907681	0.81[AFR][1000 genomes]
rs2130000	0.83[AMR][1000 genomes]
rs2171598	0.83[AMR][1000 genomes]
rs2319541	0.85[AFR][1000 genomes]
rs2319542	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2319543	0.83[AMR][1000 genomes]
rs2874022	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2874023	0.83[AMR][1000 genomes]
rs4488869	0.83[AFR][1000 genomes]
rs4676804	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4676809	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4676822	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4676832	0.83[AMR][1000 genomes]
rs6438559	0.83[AFR][1000 genomes]
rs6438561	0.83[AFR][1000 genomes]
rs6438564	0.85[AFR][1000 genomes]
rs6438566	0.85[AFR][1000 genomes]
rs6438567	0.85[AFR][1000 genomes]
rs6764549	0.83[AMR][1000 genomes]
rs6776122	0.85[AFR][1000 genomes]
rs6777971	0.83[AMR][1000 genomes]
rs6782570	0.83[AFR][1000 genomes]
rs6794478	0.83[AFR][1000 genomes]
rs6805050	0.85[AFR][1000 genomes]
rs7637828	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7641838	0.85[AFR][1000 genomes]
rs7642171	0.85[AFR][1000 genomes]
rs7653263	0.85[AFR][1000 genomes]
rs7653396	0.85[AFR][1000 genomes]
rs902790	0.85[AFR][1000 genomes]
rs902791	0.85[AFR][1000 genomes]
rs902792	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs902794	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs923726	0.83[AMR][1000 genomes]
rs923727	0.83[AMR][1000 genomes]
rs923728	0.83[AMR][1000 genomes]
rs9289142	0.85[AFR][1000 genomes]
rs9289143	0.83[AMR][1000 genomes]
rs979682	0.85[AFR][1000 genomes]
rs9813834	0.85[AFR][1000 genomes]
rs9842302	0.83[AMR][1000 genomes]
rs9849023	0.83[AMR][1000 genomes]
rs9853082	0.81[AFR][1000 genomes]
rs9857123	0.85[AFR][1000 genomes]
rs9858566	0.85[AFR][1000 genomes]
rs9868058	0.82[EUR][1000 genomes]
rs9868312	0.85[AFR][1000 genomes]
rs9872165	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv829697	chr3:119802856-119918435	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv1008362	chr3:119901774-119919670	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119896400-119921400	Weak transcription	Ovary	ovary
2	chr3:119897000-119921400	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:119897200-119914800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:119900800-119915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:119911800-119914600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:119911800-119921400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:119912000-119917000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:119914400-119916000	Enhancers	NHEK	skin

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