Variant report

Variant	rs13118189
Chromosome Location	chr4:56485369-56485370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10002268	0.85[ASN][1000 genomes]
rs10003113	0.85[ASN][1000 genomes]
rs10003211	0.85[ASN][1000 genomes]
rs10011137	0.93[ASN][1000 genomes]
rs10033028	0.85[ASN][1000 genomes]
rs10517356	0.85[ASN][1000 genomes]
rs1077103	0.83[ASN][1000 genomes]
rs1077104	0.83[ASN][1000 genomes]
rs11133404	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11735910	0.85[ASN][1000 genomes]
rs11931026	0.85[ASN][1000 genomes]
rs11935806	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11945558	0.85[ASN][1000 genomes]
rs12498734	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12499623	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12510588	0.83[ASN][1000 genomes]
rs12512220	0.83[ASN][1000 genomes]
rs1488939	0.83[ASN][1000 genomes]
rs1809643	0.83[ASN][1000 genomes]
rs1844219	0.85[ASN][1000 genomes]
rs1844220	0.85[ASN][1000 genomes]
rs1906677	0.89[ASN][1000 genomes]
rs1971991	0.85[ASN][1000 genomes]
rs28377791	0.96[ASN][1000 genomes]
rs28434169	0.89[ASN][1000 genomes]
rs28448373	0.85[ASN][1000 genomes]
rs28626806	0.85[ASN][1000 genomes]
rs28644417	0.85[ASN][1000 genomes]
rs28694060	0.95[ASN][1000 genomes]
rs4865020	0.86[ASN][1000 genomes]
rs61072181	0.97[ASN][1000 genomes]
rs6827359	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6839462	0.82[ASN][1000 genomes]
rs7658532	0.85[ASN][1000 genomes]
rs7680941	0.85[ASN][1000 genomes]
rs7690375	0.85[ASN][1000 genomes]
rs7690566	0.82[ASN][1000 genomes]
rs7697972	0.83[ASN][1000 genomes]
rs9312664	0.89[ASN][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	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv998179	chr4:56425126-56694339	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv932636	chr4:56438618-56667329	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv2762435	chr4:56478362-56494039	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv879021	chr4:56482750-56648713	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3393088	chr4:56484073-56503988	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56473600-56491600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr4:56478200-56491600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:56484200-56491600	Weak transcription	K562	blood
4	chr4:56485000-56485400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr4:56485000-56485400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr4:56485000-56485400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr4:56485000-56485400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr4:56485000-56485400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:56485200-56485400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:56485200-56487600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:56485200-56491400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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