Variant report

Variant	rs4714166
Chromosome Location	chr6:38451612-38451613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38447684..38449733-chr6:38451099..38453869,2	K562	blood:

Variant related genes	Relation type
ENSG00000226533	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12164032	0.87[ASN][1000 genomes]
rs12663177	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs16890743	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4141854	0.83[EUR][1000 genomes]
rs4623233	0.83[ASN][1000 genomes]
rs4631264	0.83[EUR][1000 genomes]
rs4711548	0.97[ASN][1000 genomes]
rs4711555	0.83[EUR][1000 genomes]
rs4714167	0.93[ASN][1000 genomes]
rs73426885	0.89[ASN][1000 genomes]
rs7752972	0.83[EUR][1000 genomes]
rs7753374	0.83[EUR][1000 genomes]
rs9349085	0.84[ASN][1000 genomes]
rs9366965	0.83[EUR][1000 genomes]
rs9369065	0.83[EUR][1000 genomes]
rs9394513	0.83[EUR][1000 genomes]
rs9394514	0.83[EUR][1000 genomes]
rs9394515	0.83[EUR][1000 genomes]
rs9462439	0.83[EUR][1000 genomes]
rs9462441	0.83[EUR][1000 genomes]
rs9462442	0.83[EUR][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	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1022724	chr6:38332368-38454527	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38437000-38455400	Weak transcription	Gastric	stomach
2	chr6:38444600-38496200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr6:38445400-38452600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:38446200-38453400	Weak transcription	Primary T cells from cord blood	blood
5	chr6:38446600-38455400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:38449800-38452400	Enhancers	Primary B cells from cord blood	blood
7	chr6:38449800-38452400	Enhancers	Primary B cells from peripheral blood	blood
8	chr6:38449800-38461600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:38450000-38453200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:38450000-38461000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:38450200-38452000	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:38450600-38451800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:38450600-38469800	Weak transcription	HSMMtube	muscle
14	chr6:38450800-38455200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:38450800-38458000	Weak transcription	Fetal Lung	lung
16	chr6:38450800-38461600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:38451000-38452000	Flanking Active TSS	GM12878-XiMat	blood
18	chr6:38451000-38461000	Weak transcription	Fetal Brain Male	brain
19	chr6:38451400-38452600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr6:38451600-38452200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:38451600-38471000	Weak transcription	Psoas Muscle	Psoas

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