Variant report

Variant	rs2629973
Chromosome Location	chr4:22680415-22680416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1842097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2581966	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2581982	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2581993	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2618924	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2618928	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2618929	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2618945	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2618947	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2618948	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2618949	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2618952	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv829883	chr4:22666326-22842517	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr4:22670600-22681800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:22677200-22681000	Weak transcription	Fetal Lung	lung
3	chr4:22677200-22682200	Enhancers	Colon Smooth Muscle	Colon
4	chr4:22678400-22681000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:22678600-22681600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:22678600-22681800	Weak transcription	Primary B cells from cord blood	blood
7	chr4:22678600-22687000	Weak transcription	Thymus	Thymus
8	chr4:22678800-22680800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:22678800-22680800	Weak transcription	Fetal Intestine Small	intestine
10	chr4:22678800-22687200	Weak transcription	Fetal Thymus	thymus
11	chr4:22679000-22681000	Weak transcription	Primary T cells from cord blood	blood
12	chr4:22679400-22682000	Enhancers	Rectal Smooth Muscle	rectum
13	chr4:22679400-22682200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:22679800-22680800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:22680000-22680800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:22680000-22681400	Enhancers	Fetal Intestine Large	intestine
17	chr4:22680000-22682400	Enhancers	Liver	Liver
18	chr4:22680000-22682600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:22680200-22680600	Enhancers	Fetal Muscle Trunk	muscle
20	chr4:22680200-22680600	Enhancers	Fetal Muscle Leg	muscle
21	chr4:22680200-22681400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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