Variant report

Variant	rs34013124
Chromosome Location	chr22:28449827-28449828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13053179	1.00[AFR][1000 genomes]
rs13054964	0.98[EUR][1000 genomes]
rs13055218	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13055244	0.83[EUR][1000 genomes]
rs13055409	0.95[EUR][1000 genomes]
rs13056425	1.00[AFR][1000 genomes]
rs13057007	0.98[EUR][1000 genomes]
rs13057353	0.98[EUR][1000 genomes]
rs13057948	1.00[EUR][1000 genomes]
rs13058473	1.00[AFR][1000 genomes]
rs13058493	0.98[EUR][1000 genomes]
rs28360522	0.98[EUR][1000 genomes]
rs34176007	1.00[AFR][1000 genomes]
rs34189918	0.98[EUR][1000 genomes]
rs34364992	0.98[EUR][1000 genomes]
rs34625726	0.98[EUR][1000 genomes]
rs34946887	0.86[EUR][1000 genomes]
rs35098100	1.00[EUR][1000 genomes]
rs35182834	0.81[EUR][1000 genomes]
rs35286067	0.90[EUR][1000 genomes]
rs35417721	1.00[AFR][1000 genomes]
rs35523745	1.00[AFR][1000 genomes]
rs35568348	0.86[EUR][1000 genomes]
rs35649017	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35906248	0.98[EUR][1000 genomes]
rs36060887	0.82[EUR][1000 genomes]
rs41281591	0.81[EUR][1000 genomes]
rs71325269	0.90[EUR][1000 genomes]
rs71325273	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71325275	0.90[EUR][1000 genomes]
rs71325276	0.90[EUR][1000 genomes]
rs736531	0.90[EUR][1000 genomes]
rs767919	0.98[EUR][1000 genomes]
rs8141981	0.95[EUR][1000 genomes]
rs910009	1.00[EUR][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28431200-28459600	Weak transcription	Aorta	Aorta
2	chr22:28432000-28469000	Weak transcription	Primary T cells from cord blood	blood
3	chr22:28439800-28450000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr22:28440000-28450000	Weak transcription	Ovary	ovary
5	chr22:28440200-28450000	Weak transcription	NHDF-Ad	bronchial
6	chr22:28441000-28452200	Weak transcription	Fetal Intestine Large	intestine
7	chr22:28443800-28459200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr22:28444400-28458800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr22:28445200-28462200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:28445200-28470400	Weak transcription	Pancreas	Pancrea
11	chr22:28445400-28459200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr22:28445400-28470800	Weak transcription	Lung	lung
13	chr22:28445800-28462800	Weak transcription	Left Ventricle	heart
14	chr22:28446200-28458000	Weak transcription	Fetal Intestine Small	intestine
15	chr22:28446200-28467800	Weak transcription	Fetal Muscle Leg	muscle
16	chr22:28446400-28454000	Weak transcription	Dnd41	blood
17	chr22:28447600-28450600	Enhancers	Fetal Brain Male	brain
18	chr22:28448400-28458000	Weak transcription	Fetal Stomach	stomach
19	chr22:28448800-28450200	Enhancers	Osteobl	bone
20	chr22:28448800-28450800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr22:28449200-28454000	Weak transcription	Fetal Lung	lung
22	chr22:28449400-28450000	Enhancers	NHLF	lung
23	chr22:28449400-28450400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:28449400-28459400	Weak transcription	Fetal Brain Female	brain
25	chr22:28449600-28450000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr22:28449600-28450200	Enhancers	Adipose Nuclei	Adipose
27	chr22:28449600-28450400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr22:28449600-28450400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr22:28449600-28450600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr22:28449600-28458600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:28449600-28479200	Weak transcription	Brain Germinal Matrix	brain
32	chr22:28449600-28488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr22:28449800-28450000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr22:28449800-28450000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:28449800-28450000	Enhancers	Colon Smooth Muscle	Colon
36	chr22:28449800-28450200	Enhancers	Stomach Smooth Muscle	stomach
37	chr22:28449800-28450400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr22:28449800-28450600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr22:28449800-28450800	Enhancers	HUVEC	blood vessel

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