Variant report

Variant	rs2443976
Chromosome Location	chr15:45078844-45078845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44949692..44958566-chr15:45073635..45082479,18	K562	blood:
2	chr15:45078360..45081782-chr15:45082145..45085958,6	K562	blood:
3	chr15:45078400..45082133-chr15:45082665..45085139,3	K562	blood:
4	chr15:45074115..45076771-chr15:45078811..45081683,3	K562	blood:

Variant related genes	Relation type
ENSG00000104133	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1060392	0.84[EUR][1000 genomes]
rs1295358	0.90[AFR][1000 genomes]
rs14711	0.88[EUR][1000 genomes]
rs1901534	0.93[EUR][1000 genomes]
rs2123149	0.93[EUR][1000 genomes]
rs2254831	0.84[EUR][1000 genomes]
rs2254835	0.84[EUR][1000 genomes]
rs2290330	0.86[EUR][1000 genomes]
rs2290331	0.95[EUR][1000 genomes]
rs2444003	0.93[EUR][1000 genomes]
rs2444009	0.95[EUR][1000 genomes]
rs2444010	0.99[EUR][1000 genomes]
rs2468074	0.98[EUR][1000 genomes]
rs2468075	1.00[EUR][1000 genomes]
rs2468077	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2470914	0.98[EUR][1000 genomes]
rs3100139	0.93[EUR][1000 genomes]
rs3100142	0.95[EUR][1000 genomes]
rs3110172	0.93[EUR][1000 genomes]
rs3110173	0.93[EUR][1000 genomes]
rs3110176	0.93[EUR][1000 genomes]
rs3110182	0.87[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs3110662	0.93[EUR][1000 genomes]
rs3110675	0.96[EUR][1000 genomes]
rs6493108	0.81[EUR][1000 genomes]
rs7172083	0.83[EUR][1000 genomes]
rs935886	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv832990	chr15:44990765-45162714	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
5	nsv457123	chr15:45074519-45099142	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
6	nsv569302	chr15:45074519-45099142	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2443976	TRIM69	cis	Adipose Subcutaneous	GTEx
rs2443976	TRIM69	Cis_1M	lymphoblastoid	RTeQTL
rs2443976	TRIM69	cis	Muscle Skeletal	GTEx
rs2443976	TRIM69	cis	Esophagus Muscularis	GTEx
rs2443976	TRIM69	cis	Artery Tibial	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45077000-45081000	Weak transcription	Pancreas	Pancrea
2	chr15:45077000-45081000	Weak transcription	Spleen	Spleen
3	chr15:45077200-45080000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:45077200-45080400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:45077600-45079200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:45077600-45079400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr15:45077600-45080600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr15:45077600-45080800	Weak transcription	K562	blood
9	chr15:45077600-45081000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr15:45077600-45081000	Weak transcription	HUVEC	blood vessel
11	chr15:45077800-45080600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr15:45077800-45080800	Weak transcription	Dnd41	blood
13	chr15:45077800-45081000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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