Variant report

Variant	rs2389892
Chromosome Location	chr4:120577583-120577584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10434032	0.86[ASN][1000 genomes]
rs10434033	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518333	1.00[CHB][hapmap]
rs17051276	1.00[CHB][hapmap]
rs17359764	0.82[ASN][1000 genomes]
rs17359910	0.86[ASN][1000 genomes]
rs1962195	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389872	0.82[ASN][1000 genomes]
rs2389876	0.82[ASN][1000 genomes]
rs2389877	0.82[ASN][1000 genomes]
rs2389878	0.82[ASN][1000 genomes]
rs2389881	0.91[ASN][1000 genomes]
rs2389883	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389890	0.80[AFR][1000 genomes]
rs2389891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2953290	0.82[ASN][1000 genomes]
rs4146266	1.00[CHB][hapmap]
rs4834795	0.80[AFR][1000 genomes]
rs58613543	0.86[ASN][1000 genomes]
rs59225699	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62321166	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6823633	0.87[AFR][1000 genomes]
rs72922580	0.86[ASN][1000 genomes]
rs72922588	0.86[ASN][1000 genomes]
rs72922598	0.86[ASN][1000 genomes]
rs72924305	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72924312	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73842685	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7670803	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7670921	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7671191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684853	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8180147	1.00[CHB][hapmap]
rs9991735	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1802546	chr4:120558608-120675026	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120568600-120582200	Weak transcription	Fetal Brain Male	brain
2	chr4:120573800-120578600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:120574200-120577600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:120574600-120577800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:120574600-120578200	Weak transcription	NHDF-Ad	bronchial
6	chr4:120574800-120577600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:120574800-120578000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:120575600-120581400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:120576200-120579000	Enhancers	HUVEC	blood vessel
10	chr4:120576400-120578600	Enhancers	Fetal Lung	lung
11	chr4:120576600-120579000	Enhancers	NHLF	lung
12	chr4:120576800-120577800	Enhancers	Fetal Stomach	stomach
13	chr4:120576800-120578400	Enhancers	Aorta	Aorta
14	chr4:120576800-120579400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:120577200-120579000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:120577200-120580800	Weak transcription	Small Intestine	intestine
17	chr4:120577200-120581400	Enhancers	Osteobl	bone
18	chr4:120577400-120577600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:120577400-120578000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:120577400-120578400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:120577400-120578800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:120577400-120579000	Enhancers	NH-A	brain

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