Variant report

Variant	rs6858782
Chromosome Location	chr4:54513819-54513820
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10005578	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10006267	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10010205	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10021678	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10027185	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10027544	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10031525	0.98[ASN][1000 genomes]
rs10031866	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1039985	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12645402	0.94[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13146347	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13148245	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1477878	0.85[ASN][1000 genomes]
rs1477880	0.86[ASN][1000 genomes]
rs17083218	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17083272	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17083277	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1991972	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1991973	0.98[ASN][1000 genomes]
rs2086048	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2219742	0.85[ASN][1000 genomes]
rs28678201	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3942650	0.98[ASN][1000 genomes]
rs4864809	0.98[ASN][1000 genomes]
rs6554120	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6554121	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6816209	0.98[ASN][1000 genomes]
rs6818959	0.98[ASN][1000 genomes]
rs6843799	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6849381	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs750695	0.99[ASN][1000 genomes]
rs7688605	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54507800-54517000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:54507800-54520600	Weak transcription	Gastric	stomach
3	chr4:54508000-54519200	Weak transcription	Fetal Heart	heart
4	chr4:54511400-54514000	Enhancers	Small Intestine	intestine
5	chr4:54511400-54515600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:54511400-54515800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:54511400-54517200	Weak transcription	NHEK	skin
8	chr4:54511400-54520600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:54511600-54514800	Weak transcription	Left Ventricle	heart
10	chr4:54511600-54515600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:54511600-54515600	Weak transcription	Esophagus	oesophagus
12	chr4:54511600-54517400	Weak transcription	Lung	lung
13	chr4:54511600-54518800	Weak transcription	Liver	Liver
14	chr4:54511800-54515800	Weak transcription	Placenta	Placenta
15	chr4:54511800-54515800	Weak transcription	Right Atrium	heart
16	chr4:54511800-54516000	Weak transcription	Right Ventricle	heart
17	chr4:54511800-54518400	Weak transcription	GM12878-XiMat	blood
18	chr4:54512000-54517400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:54512200-54517000	Weak transcription	Fetal Intestine Small	intestine
20	chr4:54512600-54515800	Weak transcription	Psoas Muscle	Psoas
21	chr4:54512600-54518600	Weak transcription	Colonic Mucosa	Colon
22	chr4:54513400-54515600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:54513400-54515800	Weak transcription	Adipose Nuclei	Adipose
24	chr4:54513400-54515800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr4:54513400-54515800	Weak transcription	Fetal Intestine Large	intestine
26	chr4:54513400-54515800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:54513400-54516200	Weak transcription	Pancreas	Pancrea
28	chr4:54513400-54519600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:54513600-54515800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:54513800-54514000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr4:54513800-54515600	Weak transcription	Stomach Mucosa	stomach

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