Variant report

Variant	rs13119321
Chromosome Location	chr4:20841650-20841651
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10452120	0.96[ASN][1000 genomes]
rs11932876	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12649113	0.95[ASN][1000 genomes]
rs12649167	0.82[ASN][1000 genomes]
rs12650552	0.98[ASN][1000 genomes]
rs13102410	0.98[ASN][1000 genomes]
rs1388317	0.98[ASN][1000 genomes]
rs1388318	0.82[ASN][1000 genomes]
rs1491368	0.98[ASN][1000 genomes]
rs16870105	0.93[EUR][1000 genomes]
rs16870108	0.82[ASN][1000 genomes]
rs16870109	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17555380	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2130918	0.82[ASN][1000 genomes]
rs2322771	0.82[ASN][1000 genomes]
rs2322772	0.98[ASN][1000 genomes]
rs34177173	0.98[ASN][1000 genomes]
rs34995239	1.00[ASN][1000 genomes]
rs35005202	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36075118	0.98[ASN][1000 genomes]
rs36124206	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4391029	0.98[ASN][1000 genomes]
rs56413951	0.81[EUR][1000 genomes]
rs58284323	0.94[ASN][1000 genomes]
rs6811826	0.98[ASN][1000 genomes]
rs71607041	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised 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 target site	7 gene(s)	inside rSNPs	diseases
5	nsv869522	chr4:20724433-20938248	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1013365	chr4:20834054-21609078	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20834800-20850800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:20835800-20841800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:20839600-20843200	Enhancers	HUVEC	blood vessel
4	chr4:20841000-20842400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:20841200-20842000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:20841200-20842400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:20841200-20842400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:20841200-20842400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:20841200-20842600	Enhancers	HMEC	breast
10	chr4:20841400-20841800	Enhancers	Rectal Smooth Muscle	rectum
11	chr4:20841400-20842200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:20841400-20842200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:20841400-20842200	Enhancers	NHLF	lung
14	chr4:20841400-20842400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:20841400-20842400	Enhancers	HSMM	muscle
16	chr4:20841400-20842400	Enhancers	NH-A	brain
17	chr4:20841600-20841800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:20841600-20841800	Enhancers	NHEK	skin
19	chr4:20841600-20842200	Enhancers	Colon Smooth Muscle	Colon
20	chr4:20841600-20842400	Enhancers	HSMMtube	muscle

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