Variant report

Variant	rs5997340
Chromosome Location	chr22:28544847-28544848
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12157776	1.00[AMR][1000 genomes]
rs12158391	1.00[AMR][1000 genomes]
rs12159201	1.00[AMR][1000 genomes]
rs12159396	1.00[AMR][1000 genomes]
rs5997329	1.00[AMR][1000 genomes]
rs5997339	1.00[AMR][1000 genomes]
rs6005707	1.00[AMR][1000 genomes]
rs6005718	1.00[AMR][1000 genomes]
rs6005753	1.00[AMR][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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28533800-28559000	Weak transcription	Aorta	Aorta
2	chr22:28534200-28545200	Enhancers	Fetal Lung	lung
3	chr22:28536200-28546600	Weak transcription	Left Ventricle	heart
4	chr22:28536200-28549600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr22:28537200-28558800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr22:28538800-28549800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:28539200-28547000	Weak transcription	Fetal Intestine Small	intestine
8	chr22:28539200-28558400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr22:28539600-28549800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr22:28540200-28558600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr22:28540200-28567800	Weak transcription	Gastric	stomach
12	chr22:28540400-28550000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:28540800-28546200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr22:28540800-28547400	Weak transcription	NHLF	lung
15	chr22:28540800-28549800	Weak transcription	Psoas Muscle	Psoas
16	chr22:28540800-28567800	Weak transcription	Small Intestine	intestine
17	chr22:28541000-28547200	Weak transcription	Right Atrium	heart
18	chr22:28541000-28553000	Weak transcription	Fetal Muscle Leg	muscle
19	chr22:28541000-28557200	Weak transcription	Lung	lung
20	chr22:28542600-28546400	Weak transcription	HSMM	muscle
21	chr22:28542800-28548000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr22:28543000-28546800	Weak transcription	Ovary	ovary
23	chr22:28543000-28549600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr22:28543200-28548200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr22:28543200-28548200	Weak transcription	Right Ventricle	heart
26	chr22:28543400-28546400	Weak transcription	Colon Smooth Muscle	Colon
27	chr22:28543400-28548200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr22:28543400-28548200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr22:28543400-28550800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:28543400-28557600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:28543400-28559200	Weak transcription	Fetal Kidney	kidney
32	chr22:28543400-28568800	Weak transcription	NHDF-Ad	bronchial
33	chr22:28543600-28546600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr22:28543600-28546600	Weak transcription	Adipose Nuclei	Adipose
35	chr22:28543600-28551000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr22:28543600-28559000	Weak transcription	Pancreas	Pancrea
37	chr22:28543800-28545800	Weak transcription	Fetal Brain Female	brain
38	chr22:28543800-28546800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:28543800-28550800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr22:28543800-28551200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr22:28543800-28553600	Weak transcription	Brain Hippocampus Middle	brain
42	chr22:28543800-28558600	Weak transcription	Fetal Stomach	stomach
43	chr22:28543800-28567200	Weak transcription	Fetal Heart	heart
44	chr22:28544000-28546400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr22:28544000-28552000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:28544200-28546600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr22:28544200-28553200	Weak transcription	Brain Anterior Caudate	brain
48	chr22:28544400-28546800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr22:28544400-28549800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:28544600-28545600	Weak transcription	Fetal Brain Male	brain

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