Variant report

Variant	rs991986
Chromosome Location	chr11:45466720-45466721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10742757	0.90[EUR][1000 genomes]
rs10769152	0.90[EUR][1000 genomes]
rs1157784	0.90[EUR][1000 genomes]
rs1157785	0.90[EUR][1000 genomes]
rs1488664	0.81[EUR][1000 genomes]
rs1994513	0.86[EUR][1000 genomes]
rs1994514	0.86[EUR][1000 genomes]
rs1994515	0.86[EUR][1000 genomes]
rs2122839	0.86[EUR][1000 genomes]
rs2198152	0.81[EUR][1000 genomes]
rs2218877	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2863702	1.00[EUR][1000 genomes]
rs4442522	0.90[EUR][1000 genomes]
rs4755989	0.81[EUR][1000 genomes]
rs4755990	0.90[EUR][1000 genomes]
rs4755994	0.90[EUR][1000 genomes]
rs6485626	0.81[EUR][1000 genomes]
rs7111035	0.90[EUR][1000 genomes]
rs7114666	0.90[EUR][1000 genomes]
rs7949832	0.90[EUR][1000 genomes]
rs896341	0.86[EUR][1000 genomes]
rs896343	0.86[EUR][1000 genomes]
rs901899	0.86[EUR][1000 genomes]
rs901901	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045831	chr11:45419113-45580407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1049520	chr11:45430802-45494235	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv541026	chr11:45430802-45494235	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv1050657	chr11:45455431-45484320	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv1035430	chr11:45455431-45487231	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv1035254	chr11:45457183-45487231	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv1053919	chr11:45457920-45506491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv541027	chr11:45457920-45506491	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45462600-45470600	Weak transcription	Fetal Brain Male	brain
2	chr11:45466200-45466800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr11:45466200-45467000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr11:45466200-45467000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr11:45466200-45467000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:45466200-45467000	Enhancers	HMEC	breast
7	chr11:45466200-45467000	Bivalent Enhancer	NHEK	skin
8	chr11:45466400-45466800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:45466600-45467000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:45466600-45467000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:45466600-45467000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:45466600-45474200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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