Variant report

Variant	rs56058454
Chromosome Location	chr4:186609431-186609432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10004511	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10007109	0.88[ASN][1000 genomes]
rs10026539	0.89[ASN][1000 genomes]
rs10031144	0.88[ASN][1000 genomes]
rs10434304	0.84[EUR][1000 genomes]
rs13115051	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13127592	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13131969	0.89[ASN][1000 genomes]
rs13132598	0.89[ASN][1000 genomes]
rs13140805	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13150700	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369184	0.88[ASN][1000 genomes]
rs34150318	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35803875	0.96[ASN][1000 genomes]
rs4493590	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55889604	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67212481	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][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	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186587200-186610600	Weak transcription	Lung	lung
2	chr4:186596800-186610600	Weak transcription	Gastric	stomach
3	chr4:186597200-186626000	Weak transcription	HepG2	liver
4	chr4:186598400-186613200	Weak transcription	Fetal Stomach	stomach
5	chr4:186598600-186610400	Weak transcription	Aorta	Aorta
6	chr4:186598600-186610600	Weak transcription	Pancreas	Pancrea
7	chr4:186598600-186615800	Weak transcription	Fetal Intestine Small	intestine
8	chr4:186599600-186621200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:186601000-186615400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:186602400-186614800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:186603800-186614800	Weak transcription	NH-A	brain
12	chr4:186604000-186613400	Weak transcription	HUVEC	blood vessel
13	chr4:186604200-186614400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:186606000-186610400	Weak transcription	Right Atrium	heart
15	chr4:186606200-186610400	Weak transcription	Liver	Liver
16	chr4:186606200-186618400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:186606200-186621000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:186607000-186610400	Weak transcription	Right Ventricle	heart
19	chr4:186607000-186616400	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:186607800-186621200	Weak transcription	Osteobl	bone
21	chr4:186607800-186621800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:186608000-186626000	Weak transcription	HSMM	muscle
23	chr4:186608600-186610400	Weak transcription	Left Ventricle	heart
24	chr4:186608600-186616800	Weak transcription	HSMMtube	muscle
25	chr4:186609000-186615400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:186609200-186610000	Weak transcription	Fetal Heart	heart

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