Variant report

Variant	rs34364992
Chromosome Location	chr22:28541884-28541885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs13054964	0.95[EUR][1000 genomes]
rs13055218	0.95[EUR][1000 genomes]
rs13055244	0.85[EUR][1000 genomes]
rs13055409	0.98[EUR][1000 genomes]
rs13055548	0.81[EUR][1000 genomes]
rs13057007	1.00[EUR][1000 genomes]
rs13057353	0.95[EUR][1000 genomes]
rs13057948	0.98[EUR][1000 genomes]
rs13058493	0.95[EUR][1000 genomes]
rs28360522	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34013124	0.98[EUR][1000 genomes]
rs34031771	0.81[EUR][1000 genomes]
rs34189918	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34625726	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34946887	0.88[EUR][1000 genomes]
rs34962554	0.88[AFR][1000 genomes]
rs35098100	0.98[EUR][1000 genomes]
rs35182834	0.83[EUR][1000 genomes]
rs35286067	0.93[EUR][1000 genomes]
rs35417721	0.80[EUR][1000 genomes]
rs35568348	0.88[EUR][1000 genomes]
rs35568804	0.81[EUR][1000 genomes]
rs35649017	0.95[EUR][1000 genomes]
rs35750499	0.81[EUR][1000 genomes]
rs35906248	0.95[EUR][1000 genomes]
rs36060887	0.84[EUR][1000 genomes]
rs41281591	0.83[EUR][1000 genomes]
rs71325266	0.81[EUR][1000 genomes]
rs71325269	0.93[EUR][1000 genomes]
rs71325273	0.95[EUR][1000 genomes]
rs71325275	0.93[EUR][1000 genomes]
rs71325276	0.93[EUR][1000 genomes]
rs71325290	0.88[AFR][1000 genomes]
rs736531	0.88[EUR][1000 genomes]
rs767919	1.00[EUR][1000 genomes]
rs8141981	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs910009	0.98[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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28533600-28542800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:28533800-28559000	Weak transcription	Aorta	Aorta
3	chr22:28534200-28545200	Enhancers	Fetal Lung	lung
4	chr22:28534400-28544000	Enhancers	Fetal Brain Male	brain
5	chr22:28536000-28542200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr22:28536000-28544400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:28536200-28542400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr22:28536200-28546600	Weak transcription	Left Ventricle	heart
9	chr22:28536200-28549600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:28536400-28542200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr22:28536800-28543800	Enhancers	Fetal Brain Female	brain
12	chr22:28537200-28558800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:28537400-28542400	Weak transcription	Right Ventricle	heart
14	chr22:28538000-28542200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr22:28538400-28543600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr22:28538400-28544800	Weak transcription	Dnd41	blood
17	chr22:28538800-28549800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr22:28539200-28542400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:28539200-28547000	Weak transcription	Fetal Intestine Small	intestine
20	chr22:28539200-28558400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr22:28539400-28542000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr22:28539600-28549800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr22:28539800-28542000	Weak transcription	Brain Hippocampus Middle	brain
24	chr22:28539800-28542200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:28540000-28542000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:28540000-28542800	Weak transcription	Osteobl	bone
27	chr22:28540200-28542200	Weak transcription	Brain Angular Gyrus	brain
28	chr22:28540200-28542200	Weak transcription	Brain Anterior Caudate	brain
29	chr22:28540200-28542400	Weak transcription	HSMM	muscle
30	chr22:28540200-28543200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr22:28540200-28558600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr22:28540200-28567800	Weak transcription	Gastric	stomach
33	chr22:28540400-28542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr22:28540400-28542800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr22:28540400-28542800	Weak transcription	Fetal Heart	heart
36	chr22:28540400-28543000	Weak transcription	NHDF-Ad	bronchial
37	chr22:28540400-28550000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr22:28540800-28542400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr22:28540800-28542600	Weak transcription	Adipose Nuclei	Adipose
40	chr22:28540800-28542600	Weak transcription	HSMMtube	muscle
41	chr22:28540800-28542800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:28540800-28546200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr22:28540800-28547400	Weak transcription	NHLF	lung
44	chr22:28540800-28549800	Weak transcription	Psoas Muscle	Psoas
45	chr22:28540800-28567800	Weak transcription	Small Intestine	intestine
46	chr22:28541000-28542000	Weak transcription	Fetal Stomach	stomach
47	chr22:28541000-28542200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr22:28541000-28542200	Weak transcription	Fetal Kidney	kidney
49	chr22:28541000-28542400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr22:28541000-28542400	Weak transcription	Ovary	ovary

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