Variant report

Variant	rs8141399
Chromosome Location	chr22:31102971-31102972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31094824..31097723-chr22:31102778..31104429,2	K562	blood:
2	chr22:31090008..31092969-chr22:31102962..31105324,2	MCF-7	breast:
3	chr22:31097943..31099790-chr22:31101599..31104333,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11913598	1.00[AMR][1000 genomes]
rs11914209	1.00[AMR][1000 genomes]
rs7285542	1.00[AMR][1000 genomes]
rs7291536	1.00[AMR][1000 genomes]
rs8138084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8142043	1.00[AMR][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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31092200-31111000	Weak transcription	Fetal Intestine Small	intestine
2	chr22:31099600-31103200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr22:31099800-31103800	Enhancers	Fetal Brain Male	brain
4	chr22:31100000-31103000	Enhancers	Brain Substantia Nigra	brain
5	chr22:31100800-31103200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr22:31101000-31103000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:31101000-31103000	Enhancers	Brain Cingulate Gyrus	brain
8	chr22:31101200-31108000	Weak transcription	Gastric	stomach
9	chr22:31101600-31103000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:31101600-31103000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr22:31101600-31103000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr22:31101600-31103000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr22:31101600-31103000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr22:31101600-31103000	Enhancers	Brain Hippocampus Middle	brain
15	chr22:31101600-31103000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr22:31101600-31103000	Enhancers	HSMM	muscle
17	chr22:31101600-31103200	Enhancers	HSMMtube	muscle
18	chr22:31101800-31103000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr22:31101800-31103000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:31101800-31103000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr22:31101800-31103000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr22:31101800-31103000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr22:31101800-31103000	Enhancers	NH-A	brain
24	chr22:31101800-31104800	Weak transcription	Pancreas	Pancrea
25	chr22:31102000-31103000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:31102200-31103000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr22:31102200-31103000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr22:31102200-31103000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr22:31102200-31105400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr22:31102600-31103000	Enhancers	Brain Anterior Caudate	brain
31	chr22:31102600-31103000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr22:31102600-31103200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:31102800-31103000	Enhancers	Fetal Brain Female	brain
34	chr22:31102800-31103000	Enhancers	NHLF	lung
35	chr22:31102800-31103000	Enhancers	Osteobl	bone
36	chr22:31102800-31103200	Enhancers	NHDF-Ad	bronchial
37	chr22:31102800-31103800	Enhancers	GM12878-XiMat	blood

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