Variant report

Variant	rs5752697
Chromosome Location	chr22:28516628-28516629
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10483141	1.00[AMR][1000 genomes]
rs10483148	0.90[AMR][1000 genomes]
rs130411	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs135637	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs135638	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs135641	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs135643	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs135644	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs135645	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs135647	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs135649	0.90[AMR][1000 genomes]
rs135655	0.90[AMR][1000 genomes]
rs135659	1.00[AMR][1000 genomes]
rs16985862	0.81[AMR][1000 genomes]
rs16985870	0.81[AMR][1000 genomes]
rs16985909	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16985925	0.90[AMR][1000 genomes]
rs16985933	0.90[AMR][1000 genomes]
rs16985951	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16986244	0.90[AMR][1000 genomes]
rs16986248	0.90[AMR][1000 genomes]
rs16986251	0.90[AMR][1000 genomes]
rs16986254	0.90[AMR][1000 genomes]
rs16986257	0.90[AMR][1000 genomes]
rs16986266	0.90[AMR][1000 genomes]
rs17391737	0.90[AMR][1000 genomes]
rs17481471	0.90[AMR][1000 genomes]
rs17482652	0.90[AMR][1000 genomes]
rs17483227	0.90[AMR][1000 genomes]
rs17483998	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2038286	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2345011	0.81[AMR][1000 genomes]
rs2881204	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7286237	0.90[AMR][1000 genomes]
rs7290640	0.90[AMR][1000 genomes]
rs8135697	0.81[AMR][1000 genomes];0.92[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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr22:28496600-28517200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr22:28501600-28517000	Weak transcription	Brain Angular Gyrus	brain
4	chr22:28502400-28535800	Weak transcription	Right Ventricle	heart
5	chr22:28509000-28517200	Weak transcription	Stomach Mucosa	stomach
6	chr22:28509400-28516800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:28513000-28519000	Weak transcription	Ovary	ovary
8	chr22:28513200-28516800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr22:28513200-28517800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:28513200-28521400	Weak transcription	Fetal Stomach	stomach
11	chr22:28513200-28527400	Weak transcription	Left Ventricle	heart
12	chr22:28513200-28538000	Weak transcription	Dnd41	blood
13	chr22:28514000-28520000	Weak transcription	NHEK	skin
14	chr22:28515000-28516800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr22:28515200-28518200	Enhancers	Fetal Brain Male	brain
16	chr22:28515600-28520200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr22:28515600-28522000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr22:28515800-28516800	Enhancers	Fetal Brain Female	brain
19	chr22:28516400-28516800	Enhancers	Aorta	Aorta
20	chr22:28516400-28516800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr22:28516400-28517200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr22:28516400-28517400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr22:28516400-28517400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr22:28516400-28517400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr22:28516400-28517400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:28516400-28517400	Enhancers	Adipose Nuclei	Adipose
27	chr22:28516400-28517400	Enhancers	Fetal Muscle Leg	muscle
28	chr22:28516400-28517400	Enhancers	HSMM	muscle
29	chr22:28516400-28517400	Enhancers	NHDF-Ad	bronchial
30	chr22:28516400-28517600	Enhancers	Fetal Heart	heart
31	chr22:28516400-28517600	Enhancers	NH-A	brain
32	chr22:28516400-28517800	Enhancers	Fetal Lung	lung
33	chr22:28516600-28516800	Enhancers	Colon Smooth Muscle	Colon
34	chr22:28516600-28516800	Enhancers	HSMMtube	muscle
35	chr22:28516600-28517000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr22:28516600-28517200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr22:28516600-28517200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr22:28516600-28517200	Flanking Active TSS	Osteobl	bone
39	chr22:28516600-28517400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr22:28516600-28517400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr22:28516600-28517400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr22:28516600-28517400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr22:28516600-28517600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr22:28516600-28517600	Enhancers	Psoas Muscle	Psoas
45	chr22:28516600-28517800	Enhancers	HUES6 Cell Line	embryonic stem cell

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