Variant report

Variant	rs7511189
Chromosome Location	chr22:28650162-28650163
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28649522..28652291-chr22:28652428..28654001,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10483147	1.00[AMR][1000 genomes]
rs16986165	1.00[AMR][1000 genomes]
rs16986186	1.00[AMR][1000 genomes]
rs16986234	1.00[AMR][1000 genomes]
rs57490474	1.00[AMR][1000 genomes]
rs60360755	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882717	0.92[AFR][1000 genomes]
rs73882719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882722	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882723	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882724	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882738	0.84[AFR][1000 genomes]
rs995486	1.00[AFR][1000 genomes];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:29 , 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	chr22:28643400-28651800	Weak transcription	HSMMtube	muscle
5	chr22:28643600-28652400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr22:28643600-28652600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr22:28644000-28653200	Weak transcription	NHLF	lung
8	chr22:28644200-28652600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr22:28644200-28656600	Weak transcription	Left Ventricle	heart
10	chr22:28644200-28661400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:28644400-28652600	Weak transcription	Fetal Lung	lung
12	chr22:28644400-28652600	Weak transcription	Fetal Muscle Leg	muscle
13	chr22:28644400-28652600	Weak transcription	Fetal Stomach	stomach
14	chr22:28644400-28662400	Weak transcription	Psoas Muscle	Psoas
15	chr22:28644600-28655400	Weak transcription	Brain Substantia Nigra	brain
16	chr22:28645000-28655600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr22:28645800-28650400	Weak transcription	NHDF-Ad	bronchial
18	chr22:28645800-28652400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr22:28646000-28664000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr22:28646400-28652400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr22:28646400-28652600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:28646600-28650200	Weak transcription	NH-A	brain
23	chr22:28646600-28650800	Weak transcription	Osteobl	bone
24	chr22:28647200-28651200	Weak transcription	Small Intestine	intestine
25	chr22:28649400-28650600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr22:28649400-28651200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:28649600-28650400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr22:28650000-28650600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:28650000-28651200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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