Variant report

Variant	rs738398
Chromosome Location	chr22:28647423-28647424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11090520	1.00[AFR][1000 genomes]
rs12484825	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17409164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17409195	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4638899	0.83[EUR][1000 genomes]
rs738474	1.00[AFR][1000 genomes]
rs9608663	1.00[AFR][1000 genomes]
rs9608666	1.00[AFR][1000 genomes]
rs9608672	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9608675	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9608690	1.00[AFR][1000 genomes]
rs9613558	1.00[AFR][1000 genomes]
rs9613560	1.00[AFR][1000 genomes]
rs9613569	1.00[AFR][1000 genomes]
rs9613573	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9613575	0.86[AMR][1000 genomes]
rs9613589	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9613590	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9613591	1.00[AFR][1000 genomes]
rs9613601	0.83[EUR][1000 genomes]
rs9613613	1.00[AFR][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	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
2	chr22:28635600-28650800	Weak transcription	Dnd41	blood
3	chr22:28641000-28655800	Weak transcription	Fetal Kidney	kidney
4	chr22:28641200-28648400	Weak transcription	Fetal Brain Male	brain
5	chr22:28642000-28648200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr22:28642400-28649400	Weak transcription	Fetal Intestine Large	intestine
7	chr22:28643400-28649400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr22:28643400-28651800	Weak transcription	HSMMtube	muscle
9	chr22:28643600-28652400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr22:28643600-28652600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:28644000-28653200	Weak transcription	NHLF	lung
12	chr22:28644200-28648400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr22:28644200-28648600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:28644200-28652600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr22:28644200-28656600	Weak transcription	Left Ventricle	heart
16	chr22:28644200-28661400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr22:28644400-28649400	Weak transcription	Gastric	stomach
18	chr22:28644400-28652600	Weak transcription	Fetal Lung	lung
19	chr22:28644400-28652600	Weak transcription	Fetal Muscle Leg	muscle
20	chr22:28644400-28652600	Weak transcription	Fetal Stomach	stomach
21	chr22:28644400-28662400	Weak transcription	Psoas Muscle	Psoas
22	chr22:28644600-28655400	Weak transcription	Brain Substantia Nigra	brain
23	chr22:28645000-28655600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr22:28645200-28648600	Weak transcription	Brain Hippocampus Middle	brain
25	chr22:28645400-28649600	Weak transcription	Fetal Intestine Small	intestine
26	chr22:28645800-28649400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:28645800-28650400	Weak transcription	NHDF-Ad	bronchial
28	chr22:28645800-28652400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr22:28646000-28664000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr22:28646200-28649400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr22:28646200-28649400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:28646400-28652400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr22:28646400-28652600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:28646600-28650200	Weak transcription	NH-A	brain
35	chr22:28646600-28650800	Weak transcription	Osteobl	bone
36	chr22:28647000-28647600	Enhancers	Stomach Mucosa	stomach
37	chr22:28647200-28651200	Weak transcription	Small Intestine	intestine
38	chr22:28647400-28647800	Enhancers	HepG2	liver

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