Variant report

Variant	rs11712863
Chromosome Location	chr3:119249659-119249660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119248972..119251681-chr3:119263402..119265133,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1131265	0.84[AFR][1000 genomes]
rs11713200	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2178318	0.81[EUR][1000 genomes]
rs2282171	0.81[EUR][1000 genomes]
rs2293370	0.84[AFR][1000 genomes]
rs3195852	0.81[EUR][1000 genomes]
rs35078244	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3772136	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3932422	0.82[EUR][1000 genomes]
rs4687859	0.81[EUR][1000 genomes]
rs4688003	0.81[EUR][1000 genomes]
rs57271503	0.88[AFR][1000 genomes]
rs6438532	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6763561	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6797866	0.81[EUR][1000 genomes]
rs7629750	0.81[EUR][1000 genomes]
rs9713715	0.81[EUR][1000 genomes]
rs9833154	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9843355	0.87[AFR][1000 genomes]
rs9846088	0.81[EUR][1000 genomes]
rs9855347	0.81[EUR][1000 genomes]
rs9872589	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119228000-119250000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:119231800-119257200	Strong transcription	GM12878-XiMat	blood
3	chr3:119237800-119251400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:119237800-119255800	Weak transcription	Spleen	Spleen
5	chr3:119239600-119253000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:119239800-119252400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr3:119243200-119251400	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:119243600-119250800	Weak transcription	Brain Anterior Caudate	brain
9	chr3:119244200-119253400	Weak transcription	Brain Substantia Nigra	brain
10	chr3:119244600-119253200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:119244800-119253400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:119244800-119257200	Weak transcription	Primary B cells from cord blood	blood
13	chr3:119245200-119276600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr3:119245400-119253400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:119247400-119250800	Weak transcription	Primary T cells from cord blood	blood
16	chr3:119248800-119249800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:119249000-119254000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr3:119249200-119251000	Active TSS	Fetal Lung	lung

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