Variant report

Variant	rs1991973
Chromosome Location	chr4:54502486-54502487
allele	A/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	0.95[ASN][1000 genomes]
rs10006267	0.95[ASN][1000 genomes]
rs10010205	0.95[ASN][1000 genomes]
rs10021678	0.93[ASN][1000 genomes]
rs10027185	0.97[ASN][1000 genomes]
rs10027544	0.96[ASN][1000 genomes]
rs10031525	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10031866	0.94[ASN][1000 genomes]
rs1039985	0.83[ASN][1000 genomes]
rs12645402	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13146347	1.00[ASN][1000 genomes]
rs13148245	0.95[ASN][1000 genomes]
rs1477878	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1477880	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17083218	0.95[ASN][1000 genomes]
rs17083272	0.84[ASN][1000 genomes]
rs17083277	0.83[ASN][1000 genomes]
rs1991972	1.00[ASN][1000 genomes]
rs2086048	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2219742	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3942650	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4864809	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6554120	0.98[ASN][1000 genomes]
rs6554121	0.97[ASN][1000 genomes]
rs6816209	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6818959	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6822736	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6843799	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6849381	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6858782	0.98[ASN][1000 genomes]
rs750695	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7688605	1.00[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54485200-54505800	Weak transcription	Esophagus	oesophagus
2	chr4:54494600-54507000	Weak transcription	Right Ventricle	heart
3	chr4:54499200-54503000	Enhancers	Ovary	ovary
4	chr4:54501200-54502600	Enhancers	Fetal Lung	lung
5	chr4:54501200-54502800	Enhancers	Pancreas	Pancrea
6	chr4:54501200-54503000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:54501400-54503000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:54501400-54506400	Weak transcription	Stomach Mucosa	stomach
9	chr4:54501400-54507000	Weak transcription	Left Ventricle	heart
10	chr4:54501400-54507000	Weak transcription	Lung	lung
11	chr4:54501400-54510800	Weak transcription	Right Atrium	heart
12	chr4:54501600-54507000	Weak transcription	Fetal Intestine Large	intestine
13	chr4:54501800-54503400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:54502000-54502600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:54502000-54502800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr4:54502000-54502800	Enhancers	Brain Hippocampus Middle	brain
17	chr4:54502000-54502800	Enhancers	Brain Substantia Nigra	brain
18	chr4:54502200-54502800	Enhancers	Adipose Nuclei	Adipose
19	chr4:54502200-54506600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:54502200-54507000	Weak transcription	Gastric	stomach
21	chr4:54502400-54502800	Enhancers	GM12878-XiMat	blood

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