Variant report

Variant	rs28591554
Chromosome Location	chr4:54370954-54370955
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]
rs10001337	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17658423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1865510	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28644315	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9992650	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54329600-54373600	Weak transcription	Brain Germinal Matrix	brain
2	chr4:54329800-54374000	Weak transcription	Left Ventricle	heart
3	chr4:54333000-54374800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:54343000-54385600	Weak transcription	Fetal Brain Female	brain
5	chr4:54343200-54376800	Weak transcription	Brain Anterior Caudate	brain
6	chr4:54346400-54374000	Weak transcription	Right Ventricle	heart
7	chr4:54347600-54401800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:54355200-54378600	Weak transcription	Fetal Brain Male	brain
9	chr4:54356600-54373400	Weak transcription	Right Atrium	heart
10	chr4:54362400-54374200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:54362800-54373000	Weak transcription	Liver	Liver
12	chr4:54362800-54376000	Weak transcription	Brain Angular Gyrus	brain
13	chr4:54363200-54373400	Weak transcription	Gastric	stomach
14	chr4:54363200-54384200	Weak transcription	Esophagus	oesophagus
15	chr4:54363800-54371400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:54363800-54371800	Weak transcription	Fetal Intestine Large	intestine
17	chr4:54363800-54384000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:54364200-54373200	Weak transcription	Adipose Nuclei	Adipose
19	chr4:54364200-54373200	Weak transcription	NHDF-Ad	bronchial
20	chr4:54364400-54371800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:54365400-54374200	Weak transcription	Fetal Stomach	stomach
22	chr4:54365600-54372000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:54365600-54374000	Weak transcription	Aorta	Aorta
24	chr4:54365800-54374000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:54366600-54373200	Weak transcription	HSMM	muscle
26	chr4:54366600-54373400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:54366600-54373400	Weak transcription	Fetal Muscle Leg	muscle
28	chr4:54366600-54373800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr4:54366600-54384200	Weak transcription	Pancreas	Pancrea
30	chr4:54366800-54373400	Weak transcription	HSMMtube	muscle
31	chr4:54368000-54372600	Weak transcription	Fetal Intestine Small	intestine
32	chr4:54368000-54376600	Weak transcription	Ovary	ovary
33	chr4:54370600-54371200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:54370600-54373200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:54370800-54374800	Strong transcription	Placenta	Placenta

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