Variant report

Variant	rs324109
Chromosome Location	chr19:52919361-52919362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52918097..52920312-chr19:52920533..52923080,2	MCF-7	breast:
2	chr19:52918301..52920285-chr19:52922376..52925176,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10401152	1.00[EUR][1000 genomes]
rs11883016	1.00[EUR][1000 genomes]
rs162121	1.00[EUR][1000 genomes]
rs162122	1.00[EUR][1000 genomes]
rs2560994	1.00[EUR][1000 genomes]
rs2608512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2608516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs324090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7249342	1.00[EUR][1000 genomes]
rs7252819	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833873	chr19:52788939-52937281	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription 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	24 gene(s)	inside rSNPs	diseases
3	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv912300	chr19:52832830-52928039	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv912302	chr19:52859828-52928039	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv912303	chr19:52874140-52928039	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv828615	chr19:52888767-52936555	ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv2762048	chr19:52895166-52997571	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3412133	chr19:52907745-52935907	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52902800-52924200	ZNF genes & repeats	Liver	Liver
2	chr19:52905000-52920800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:52905000-52923800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:52906400-52920600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
5	chr19:52906600-52921000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
6	chr19:52908200-52919400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:52908600-52920800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:52911400-52922000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr19:52911800-52923600	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:52912000-52919600	ZNF genes & repeats	Left Ventricle	heart
11	chr19:52912200-52920000	ZNF genes & repeats	Fetal Lung	lung
12	chr19:52912600-52920400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
13	chr19:52913000-52922000	ZNF genes & repeats	Fetal Brain Female	brain
14	chr19:52913400-52920000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
15	chr19:52913400-52920200	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr19:52913800-52919600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:52914200-52919400	ZNF genes & repeats	Brain Anterior Caudate	brain
18	chr19:52915600-52919600	ZNF genes & repeats	Brain Hippocampus Middle	brain
19	chr19:52915800-52920800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
20	chr19:52916000-52919800	ZNF genes & repeats	Brain Substantia Nigra	brain
21	chr19:52916200-52920400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
22	chr19:52917600-52919800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
23	chr19:52917600-52920200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr19:52918000-52919400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr19:52918800-52920800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood

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