Variant report

Variant	rs28454169
Chromosome Location	chr4:121959393-121959394
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1376104	1.00[AMR][1000 genomes]
rs1376106	1.00[AMR][1000 genomes]
rs1450477	1.00[AMR][1000 genomes]
rs1901137	1.00[AMR][1000 genomes]
rs1901138	1.00[AMR][1000 genomes]
rs4305542	1.00[AMR][1000 genomes]
rs4336253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6836209	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121952200-121979600	Weak transcription	Psoas Muscle	Psoas
2	chr4:121952400-121961400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:121953600-121968600	Weak transcription	NHDF-Ad	bronchial
4	chr4:121954000-121962800	Weak transcription	Left Ventricle	heart
5	chr4:121955600-121967000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:121957200-121959400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:121957200-121959400	Strong transcription	Fetal Lung	lung
8	chr4:121957200-121963200	Strong transcription	Fetal Intestine Large	intestine
9	chr4:121957400-121962400	Weak transcription	Fetal Kidney	kidney
10	chr4:121957400-121963200	Strong transcription	Ovary	ovary
11	chr4:121957800-121961000	Strong transcription	Lung	lung
12	chr4:121958200-121961800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr4:121958200-121962600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:121958400-121960000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:121958400-121971400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:121958600-121961000	Weak transcription	Fetal Stomach	stomach
17	chr4:121958600-121962600	Weak transcription	Adipose Nuclei	Adipose
18	chr4:121958800-121959400	Weak transcription	Fetal Intestine Small	intestine
19	chr4:121958800-121960800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:121958800-121962600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:121959000-121962400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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