Variant report

Variant	rs7254625
Chromosome Location	chr19:44359136-44359137
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	chr19:44355034..44358030-chr19:44358600..44360589,3	K562	blood:
2	chr19:44352671..44354386-chr19:44358392..44361083,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1124737	1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs16976860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16976861	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16976863	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16976889	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs17449078	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2191562	0.90[YRI][hapmap]
rs2191563	0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs56870791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57500373	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs59935787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60582855	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs61022716	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61277064	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs61528694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6509121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs766959	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs8103693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8105412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8106317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8107364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8108832	1.00[AFR][1000 genomes];1.00[AMR][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	nsv458710	chr19:44339960-44410846	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv579853	chr19:44339960-44410846	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv524460	chr19:44352688-44372015	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv912108	chr19:44358761-44435167	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44335200-44368200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:44335400-44366600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:44355600-44359200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:44356800-44359200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:44357000-44359600	Weak transcription	Brain Angular Gyrus	brain
6	chr19:44357000-44360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:44357200-44359200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr19:44358000-44359200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:44358000-44360800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr19:44358000-44365000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:44358000-44368800	ZNF genes & repeats	Liver	Liver
12	chr19:44358200-44359200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:44358600-44369200	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr19:44358800-44359600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:44358800-44360000	ZNF genes & repeats	Aorta	Aorta
16	chr19:44358800-44360400	ZNF genes & repeats	Ovary	ovary
17	chr19:44358800-44362000	ZNF genes & repeats	Left Ventricle	heart
18	chr19:44359000-44359800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:44359000-44359800	ZNF genes & repeats	Psoas Muscle	Psoas
20	chr19:44359000-44359800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
21	chr19:44359000-44360000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
22	chr19:44359000-44361200	ZNF genes & repeats	Brain Anterior Caudate	brain
23	chr19:44359000-44361200	ZNF genes & repeats	Brain Hippocampus Middle	brain
24	chr19:44359000-44362000	ZNF genes & repeats	Fetal Lung	lung

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