Variant report

Variant	rs8141981
Chromosome Location	chr22:28550600-28550601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13054964	0.93[EUR][1000 genomes]
rs13055218	0.93[EUR][1000 genomes]
rs13055244	0.83[EUR][1000 genomes]
rs13055409	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13056121	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13056319	0.82[AFR][1000 genomes]
rs13057007	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13057353	0.93[EUR][1000 genomes]
rs13057692	0.80[AFR][1000 genomes]
rs13057948	0.95[EUR][1000 genomes]
rs13058493	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28360522	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34013124	0.95[EUR][1000 genomes]
rs34189918	0.98[EUR][1000 genomes]
rs34262300	0.82[AFR][1000 genomes]
rs34364992	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34625726	0.98[EUR][1000 genomes]
rs34925495	0.80[AFR][1000 genomes]
rs34946887	0.86[EUR][1000 genomes]
rs35051985	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs35098100	0.95[EUR][1000 genomes]
rs35182834	0.81[EUR][1000 genomes]
rs35286067	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35568348	0.86[EUR][1000 genomes]
rs35649017	0.93[EUR][1000 genomes]
rs35906248	0.93[EUR][1000 genomes]
rs36060887	0.82[EUR][1000 genomes]
rs41281591	0.81[EUR][1000 genomes]
rs71325269	0.90[EUR][1000 genomes]
rs71325273	0.93[EUR][1000 genomes]
rs71325275	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71325276	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs736531	0.86[EUR][1000 genomes]
rs767919	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8142398	0.87[AFR][1000 genomes]
rs910009	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28533800-28559000	Weak transcription	Aorta	Aorta
2	chr22:28537200-28558800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:28539200-28558400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr22:28540200-28558600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr22:28540200-28567800	Weak transcription	Gastric	stomach
6	chr22:28540800-28567800	Weak transcription	Small Intestine	intestine
7	chr22:28541000-28553000	Weak transcription	Fetal Muscle Leg	muscle
8	chr22:28541000-28557200	Weak transcription	Lung	lung
9	chr22:28543400-28550800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:28543400-28557600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:28543400-28559200	Weak transcription	Fetal Kidney	kidney
12	chr22:28543400-28568800	Weak transcription	NHDF-Ad	bronchial
13	chr22:28543600-28551000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:28543600-28559000	Weak transcription	Pancreas	Pancrea
15	chr22:28543800-28550800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:28543800-28551200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:28543800-28553600	Weak transcription	Brain Hippocampus Middle	brain
18	chr22:28543800-28558600	Weak transcription	Fetal Stomach	stomach
19	chr22:28543800-28567200	Weak transcription	Fetal Heart	heart
20	chr22:28544000-28552000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:28544200-28553200	Weak transcription	Brain Anterior Caudate	brain
22	chr22:28546800-28553400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr22:28547000-28558600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr22:28547000-28558600	Weak transcription	Left Ventricle	heart
25	chr22:28547400-28551600	Weak transcription	Dnd41	blood
26	chr22:28547400-28552000	Weak transcription	Ovary	ovary
27	chr22:28547400-28557200	Weak transcription	Fetal Intestine Small	intestine
28	chr22:28547400-28558000	Weak transcription	Fetal Intestine Large	intestine
29	chr22:28547400-28558600	Weak transcription	Liver	Liver
30	chr22:28547600-28550800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr22:28547600-28551600	Weak transcription	Adipose Nuclei	Adipose
32	chr22:28547600-28559600	Weak transcription	HepG2	liver
33	chr22:28547800-28553000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr22:28547800-28553800	Weak transcription	Fetal Lung	lung
35	chr22:28548400-28558400	Weak transcription	Fetal Brain Female	brain
36	chr22:28548400-28559200	Weak transcription	Fetal Brain Male	brain
37	chr22:28548400-28566600	Weak transcription	Colon Smooth Muscle	Colon
38	chr22:28550200-28552000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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