Variant report

Variant	rs71331262
Chromosome Location	chr22:31094178-31094179
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31088691..31091818-chr22:31094131..31098942,6	MCF-7	breast:
2	chr22:31063745..31065263-chr22:31093337..31095261,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184792	Chromatin interaction
ENSG00000167065	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11703133	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11703252	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13053148	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs13053186	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13053277	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13054609	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13055971	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13056033	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13057481	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs13058171	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16988966	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34366470	0.81[AMR][1000 genomes]
rs35317322	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41279967	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71331258	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71331260	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71331261	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8142472	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8142842	0.90[AMR][1000 genomes];0.97[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs71331262	SF3A1	cis	cerebellar cortex	BrainEAC

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31091400-31094800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr22:31091600-31097800	Weak transcription	NHLF	lung
3	chr22:31091800-31102000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr22:31092000-31101000	Weak transcription	Gastric	stomach
5	chr22:31092200-31094800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr22:31092200-31098000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr22:31092200-31102200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr22:31092200-31111000	Weak transcription	Fetal Intestine Small	intestine
9	chr22:31092400-31094200	Enhancers	Fetal Brain Male	brain
10	chr22:31092400-31101800	Weak transcription	Colon Smooth Muscle	Colon
11	chr22:31092400-31101800	Weak transcription	Spleen	Spleen
12	chr22:31092600-31094200	Enhancers	Brain Germinal Matrix	brain
13	chr22:31092800-31097800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr22:31093200-31094200	Enhancers	Brain Substantia Nigra	brain
15	chr22:31093200-31095400	Weak transcription	NHDF-Ad	bronchial
16	chr22:31093200-31095600	Enhancers	Brain Cingulate Gyrus	brain
17	chr22:31093200-31099800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:31093600-31094200	Flanking Active TSS	Brain Angular Gyrus	brain
19	chr22:31093800-31094200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr22:31093800-31094200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr22:31093800-31094200	Enhancers	Duodenum Mucosa	Duodenum
22	chr22:31093800-31094200	Enhancers	Lung	lung
23	chr22:31093800-31094200	Enhancers	Pancreas	Pancrea
24	chr22:31094000-31094200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:31094000-31094200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:31094000-31094200	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr22:31094000-31094200	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr22:31094000-31094200	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr22:31094000-31094200	Active TSS	Fetal Brain Female	brain
30	chr22:31094000-31094200	Enhancers	K562	blood
31	chr22:31094000-31097600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:31094000-31101800	Weak transcription	H9 Cell Line	embryonic stem cell

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