Variant report

Variant	rs324111
Chromosome Location	chr19:52964493-52964494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1465559	0.81[AFR][1000 genomes]
rs1651539	1.00[AMR][1000 genomes]
rs1673912	0.85[AFR][1000 genomes]
rs324112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4802953	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv580026	chr19:52937100-53059872	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1063648	chr19:52938131-53041119	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3415774	chr19:52938189-52970794	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52956000-52969600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr19:52956000-52986200	ZNF genes & repeats	Liver	Liver
3	chr19:52957400-52964600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:52957400-52970200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:52957600-52964800	ZNF genes & repeats	Fetal Lung	lung
6	chr19:52957600-52967200	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr19:52957600-52967400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:52957800-52967000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:52957800-52968800	ZNF genes & repeats	Brain Germinal Matrix	brain
10	chr19:52957800-52969600	ZNF genes & repeats	Fetal Brain Female	brain
11	chr19:52957800-52970000	ZNF genes & repeats	Brain Anterior Caudate	brain
12	chr19:52957800-52990400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr19:52959600-52966800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr19:52961400-52965400	Weak transcription	Aorta	Aorta
15	chr19:52961400-52965600	Weak transcription	Pancreas	Pancrea
16	chr19:52961600-52969200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:52962200-52965800	ZNF genes & repeats	Psoas Muscle	Psoas
18	chr19:52962400-52966000	ZNF genes & repeats	Fetal Brain Male	brain
19	chr19:52963400-52987600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr19:52963600-52965200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr19:52964400-52964600	ZNF genes & repeats	HSMM	muscle
22	chr19:52964400-52965400	Weak transcription	Left Ventricle	heart

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