Variant report

Variant	rs2252343
Chromosome Location	chr10:22111229-22111230
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10740997	0.80[ASN][1000 genomes]
rs1086896	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1086897	0.82[AMR][1000 genomes]
rs1086899	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11816415	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2066270	0.89[EUR][1000 genomes]
rs2066271	0.89[EUR][1000 genomes]
rs2457954	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2487512	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2666750	0.86[EUR][1000 genomes]
rs2666753	0.82[EUR][1000 genomes]
rs2666759	0.80[ASN][1000 genomes]
rs2666760	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2666761	0.80[ASN][1000 genomes]
rs2666763	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2666769	0.89[EUR][1000 genomes]
rs2666771	0.89[EUR][1000 genomes]
rs2666775	0.80[EUR][1000 genomes]
rs2666779	0.89[EUR][1000 genomes]
rs2666781	0.84[EUR][1000 genomes]
rs2793341	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793351	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2793352	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2807978	0.80[ASN][1000 genomes]
rs2807980	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2807982	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2807983	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2807988	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6650129	0.80[ASN][1000 genomes]
rs6650130	0.80[ASN][1000 genomes]
rs7904395	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs792452	0.93[ASN][1000 genomes]
rs792453	0.83[EUR][1000 genomes]
rs792455	0.86[EUR][1000 genomes]
rs792457	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs792458	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052464	chr10:21856531-22220087	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv1802317	chr10:21866085-22288132	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv894947	chr10:21869609-22117913	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv1793816	chr10:22088054-22285371	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2252343	MLLT10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22048800-22114000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:22066000-22113000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:22074800-22123200	Weak transcription	Left Ventricle	heart
4	chr10:22095000-22114200	Weak transcription	Fetal Lung	lung
5	chr10:22100400-22122000	Weak transcription	HSMM	muscle
6	chr10:22100800-22113200	Weak transcription	K562	blood
7	chr10:22102200-22113800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:22103000-22113000	Weak transcription	Liver	Liver
9	chr10:22103000-22114400	Weak transcription	Fetal Heart	heart
10	chr10:22103800-22114400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:22104400-22114600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr10:22104600-22113800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:22106000-22114600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr10:22107600-22116000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:22110200-22112800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:22110200-22113600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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