Variant report

Variant	rs28452451
Chromosome Location	chr4:54388356-54388357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17083057	1.00[AMR][1000 genomes]
rs28525154	1.00[AMR][1000 genomes]
rs57511626	1.00[AMR][1000 genomes]
rs59214826	1.00[AMR][1000 genomes]
rs60129843	1.00[AMR][1000 genomes]
rs60576071	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54347600-54401800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:54372800-54388400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:54374400-54399000	Weak transcription	Fetal Intestine Large	intestine
4	chr4:54374400-54421000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:54374800-54393600	Weak transcription	Placenta	Placenta
6	chr4:54375000-54393600	Weak transcription	Gastric	stomach
7	chr4:54375000-54398800	Weak transcription	Fetal Intestine Small	intestine
8	chr4:54377600-54412200	Weak transcription	Aorta	Aorta
9	chr4:54384000-54388400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:54384600-54389200	Weak transcription	Pancreas	Pancrea
11	chr4:54384600-54397400	Weak transcription	HSMMtube	muscle
12	chr4:54384600-54424000	Weak transcription	Esophagus	oesophagus
13	chr4:54385200-54408600	Weak transcription	Right Atrium	heart
14	chr4:54385400-54403800	Weak transcription	Left Ventricle	heart
15	chr4:54386400-54397800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:54386600-54392600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:54386800-54392800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:54387200-54389400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:54387400-54392800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:54387600-54393600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:54387600-54393600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:54387600-54395600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:54387600-54395800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:54387800-54391200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:54387800-54391400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:54387800-54391800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:54387800-54392400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:54388200-54388800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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