Variant report

Variant	rs5753146
Chromosome Location	chr22:30842095-30842096
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30841508..30843914-chr22:30845452..30847343,2	K562	blood:
2	chr22:30781821..30783349-chr22:30839370..30842109,2	K562	blood:
3	chr22:30840134..30842525-chr22:30862585..30865175,2	K562	blood:
4	chr22:30841133..30842914-chr22:30970572..30973414,2	MCF-7	breast:
5	chr22:30827529..30829177-chr22:30839737..30842354,2	K562	blood:
6	chr22:30839545..30842321-chr22:30849222..30852849,3	K562	blood:
7	chr22:30751221..30752960-chr22:30840327..30842364,3	K562	blood:
8	chr22:30818867..30823842-chr22:30836918..30842867,11	K562	blood:
9	chr22:30840899..30842135-chr22:30881081..30882272,7	MCF-7	breast:
10	chr22:30841425..30844218-chr22:30849960..30852881,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000099999	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000128242	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000187860	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1047917	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1057995	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11089451	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1465222	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465224	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015166	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2074650	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2240345	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2269963	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2412986	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2412987	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2412988	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2899150	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3804078	0.84[ASN][1000 genomes]
rs4820848	0.97[ASN][1000 genomes]
rs4820850	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4820851	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4820854	0.82[ASN][1000 genomes]
rs4820856	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4820857	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4820858	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5749095	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749096	0.83[AMR][1000 genomes]
rs5749103	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5749104	0.85[ASN][1000 genomes]
rs5749105	0.84[ASN][1000 genomes]
rs5749108	0.82[EUR][1000 genomes]
rs5753141	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753143	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753148	0.88[AMR][1000 genomes]
rs5753150	0.89[ASN][1000 genomes]
rs5753151	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753152	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753156	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753157	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753160	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753161	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753162	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5997650	0.97[ASN][1000 genomes]
rs5997653	0.82[ASN][1000 genomes]
rs5997654	0.82[ASN][1000 genomes]
rs5997655	0.82[ASN][1000 genomes]
rs5997656	0.82[ASN][1000 genomes]
rs757662	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs757663	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8135169	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8141805	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9306260	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9306261	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9620988	0.97[ASN][1000 genomes]
rs9620998	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	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
4	nsv459870	chr22:30836313-30868418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv588886	chr22:30836313-30868418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5753146	SEC14L3	cis	Whole Blood	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30832000-30850000	Weak transcription	Right Atrium	heart
2	chr22:30832200-30852400	Weak transcription	Spleen	Spleen
3	chr22:30839600-30842400	Weak transcription	Esophagus	oesophagus
4	chr22:30840400-30842600	Enhancers	Ovary	ovary
5	chr22:30840600-30842200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:30840600-30843000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr22:30841000-30842200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr22:30841000-30842200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr22:30841000-30842200	Enhancers	NHDF-Ad	bronchial
10	chr22:30841000-30842400	Enhancers	HSMM	muscle
11	chr22:30841000-30842400	Enhancers	NHLF	lung
12	chr22:30841000-30842600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:30841000-30842600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr22:30841000-30842600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr22:30841000-30842600	Enhancers	Liver	Liver
16	chr22:30841200-30842400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr22:30841200-30842600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:30841400-30842400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr22:30841400-30842400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr22:30841800-30843600	Weak transcription	K562	blood
21	chr22:30841800-30846600	Weak transcription	Fetal Intestine Large	intestine
22	chr22:30841800-30850000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:30842000-30842600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:30842000-30844000	Weak transcription	HepG2	liver
25	chr22:30842000-30847400	Weak transcription	Hela-S3	cervix

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