Variant report

Variant	rs11951213
Chromosome Location	chr5:106930743-106930744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10037733	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056406	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948614	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952039	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955029	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957859	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13358500	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35697211	1.00[ASN][1000 genomes]
rs3864266	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3864267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67289942	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878320	1.00[ASN][1000 genomes]
rs6892545	1.00[ASN][1000 genomes]
rs6898233	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72660773	1.00[ASN][1000 genomes]
rs72660774	1.00[ASN][1000 genomes]
rs72660775	1.00[ASN][1000 genomes]
rs72660776	1.00[ASN][1000 genomes]
rs72660777	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72660778	0.84[ASN][1000 genomes]
rs9328005	1.00[ASN][1000 genomes]
rs9328007	1.00[ASN][1000 genomes]
rs9328008	1.00[ASN][1000 genomes]
rs9328009	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106926000-106931400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:106926000-106941000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:106928000-106931200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:106928200-106930800	Enhancers	Fetal Heart	heart
5	chr5:106928200-106931000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:106928600-106938800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:106929000-106938600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:106929200-106937800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:106929200-106937800	Weak transcription	Fetal Brain Female	brain
10	chr5:106929400-106931800	Enhancers	A549	lung
11	chr5:106929400-106937800	Weak transcription	Fetal Brain Male	brain
12	chr5:106929400-106945400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:106929600-106931000	Enhancers	NHEK	skin
14	chr5:106929800-106930800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:106929800-106930800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:106929800-106930800	Enhancers	HMEC	breast
17	chr5:106929800-106931000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:106930000-106930800	Enhancers	Hela-S3	cervix
19	chr5:106930000-106930800	Enhancers	HSMM	muscle
20	chr5:106930000-106931000	Enhancers	Stomach Mucosa	stomach
21	chr5:106930200-106932600	Weak transcription	Aorta	Aorta
22	chr5:106930600-106931400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:106930600-106931800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:106930600-106932000	Weak transcription	GM12878-XiMat	blood
25	chr5:106930600-106934400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr5:106930600-106935400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:106930600-106935400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:106930600-106936600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:106930600-106939800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:106930600-106939800	Weak transcription	Left Ventricle	heart
31	chr5:106930600-106944200	Weak transcription	Esophagus	oesophagus

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