Variant report

Variant	rs5753141
Chromosome Location	chr22:30838270-30838271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30821818..30823815-chr22:30836918..30838469,2	K562	blood:
2	chr22:30818867..30823842-chr22:30836918..30842867,11	K562	blood:
3	chr22:30837994..30839939-chr22:30986496..30988737,2	K562	blood:

Variant related genes	Relation type
ENSG00000242114	Chromatin interaction
ENSG00000100029	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1465222	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1465224	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2899150	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5749095	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753143	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753146	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753148	0.84[AMR][1000 genomes]
rs5753156	0.82[EUR][1000 genomes]
rs8141805	0.80[EUR][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
rs5753141	SEC14L3	cis	Whole Blood	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30824400-30839000	Weak transcription	Hela-S3	cervix
2	chr22:30831800-30841000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:30832000-30841600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:30832000-30850000	Weak transcription	Right Atrium	heart
5	chr22:30832200-30852400	Weak transcription	Spleen	Spleen
6	chr22:30836000-30838400	Enhancers	Ovary	ovary
7	chr22:30836400-30839000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr22:30836400-30839000	Weak transcription	HMEC	breast
9	chr22:30836400-30839200	Weak transcription	Esophagus	oesophagus
10	chr22:30836400-30840600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:30836600-30838400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:30837200-30839200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:30837200-30839600	Enhancers	K562	blood
14	chr22:30837400-30841200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr22:30837600-30839000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr22:30837600-30839400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
17	chr22:30837800-30838600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr22:30837800-30838800	Enhancers	Primary B cells from peripheral blood	blood
19	chr22:30837800-30839000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
20	chr22:30837800-30839200	Weak transcription	Left Ventricle	heart
21	chr22:30837800-30839400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr22:30838000-30838800	Flanking Active TSS	GM12878-XiMat	blood
23	chr22:30838000-30839000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr22:30838000-30839000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr22:30838000-30839200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr22:30838000-30839400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr22:30838000-30839400	Enhancers	Osteobl	bone
28	chr22:30838000-30839800	Enhancers	Dnd41	blood
29	chr22:30838200-30838400	Enhancers	NH-A	brain
30	chr22:30838200-30838600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr22:30838200-30839400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr22:30838200-30839400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr22:30838200-30839400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr22:30838200-30839400	Enhancers	Muscle Satellite Cultured Cells	--

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