Variant report

Variant	rs28380115
Chromosome Location	chr4:122074173-122074174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10030846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17051303	1.00[EUR][1000 genomes]
rs17051304	1.00[EUR][1000 genomes]
rs17051306	1.00[EUR][1000 genomes]
rs17051309	1.00[EUR][1000 genomes]
rs17051311	1.00[EUR][1000 genomes]
rs17051312	1.00[EUR][1000 genomes]
rs17051313	1.00[EUR][1000 genomes]
rs17051314	1.00[EUR][1000 genomes]
rs17051315	1.00[EUR][1000 genomes]
rs17051316	1.00[EUR][1000 genomes]
rs28465139	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28562240	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6837539	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72668912	1.00[EUR][1000 genomes]
rs73847413	1.00[EUR][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	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3386870	chr4:121867625-122208448	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879860	chr4:122030864-122126808	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island 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	chr4:122070400-122075000	Weak transcription	Fetal Lung	lung
2	chr4:122071400-122075000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr4:122071600-122074800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:122071600-122074800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr4:122071600-122075000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr4:122071800-122074800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr4:122072000-122074800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:122072000-122075000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr4:122072400-122074800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr4:122073000-122074800	Enhancers	Dnd41	blood
11	chr4:122073000-122076400	Enhancers	Fetal Thymus	thymus
12	chr4:122073200-122075000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:122073200-122075600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:122073200-122077600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:122073400-122076600	Weak transcription	Osteobl	bone
16	chr4:122073600-122075600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:122073600-122076400	Weak transcription	NHDF-Ad	bronchial
18	chr4:122073600-122076600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:122074000-122074200	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr4:122074000-122074200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr4:122074000-122075000	Enhancers	Thymus	Thymus
22	chr4:122074000-122077000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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