Variant report

Variant	rs66969937
Chromosome Location	chr19:19812570-19812571
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	chr19:19809682..19811235-chr19:19811521..19813836,2	K562	blood:

Variant related genes	Relation type
ENSG00000271283	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11878966	0.88[AFR][1000 genomes]
rs11883102	0.88[AFR][1000 genomes]
rs12971661	0.97[ASN][1000 genomes]
rs12972143	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12980676	0.95[EUR][1000 genomes]
rs12984134	0.99[ASN][1000 genomes]
rs12984377	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34352974	0.95[EUR][1000 genomes]
rs34402383	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34554175	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34984663	0.95[EUR][1000 genomes]
rs57474361	0.88[AFR][1000 genomes]
rs60133934	0.88[AFR][1000 genomes]
rs66522026	0.95[EUR][1000 genomes]
rs73539261	0.88[AFR][1000 genomes]
rs73541334	0.88[AFR][1000 genomes]
rs73541344	0.88[AFR][1000 genomes]
rs74181153	0.95[EUR][1000 genomes]
rs8112744	0.88[AFR][1000 genomes]
rs8113100	0.88[AFR][1000 genomes]
rs9676945	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3330851	chr19:19755507-19852881	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv519533	chr19:19789528-19831544	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1065704	chr19:19797999-19865818	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
6	nsv543929	chr19:19797999-19865818	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1062017	chr19:19803482-19865818	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv543930	chr19:19803482-19865818	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1057601	chr19:19803482-19873623	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1063535	chr19:19806386-19863631	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv1062212	chr19:19806386-19869332	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr19:19791200-19816800	Weak transcription	Right Ventricle	heart
2	chr19:19808800-19814600	Weak transcription	Pancreas	Pancrea
3	chr19:19808800-19818200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:19810200-19813200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:19810600-19812800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
6	chr19:19810800-19813200	Weak transcription	Fetal Brain Male	brain
7	chr19:19810800-19830800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr19:19811000-19813600	ZNF genes & repeats	Fetal Stomach	stomach
9	chr19:19811000-19816400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr19:19811200-19812600	ZNF genes & repeats	Fetal Lung	lung
11	chr19:19811400-19812600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:19811400-19812800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
13	chr19:19811600-19833200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:19811800-19812600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
15	chr19:19811800-19812800	ZNF genes & repeats	Colon Smooth Muscle	Colon
16	chr19:19812000-19818000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:19812200-19813000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:19812200-19813600	Weak transcription	Brain Hippocampus Middle	brain
19	chr19:19812200-19815600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:19812200-19815600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr19:19812200-19815800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr19:19812400-19815800	Weak transcription	Dnd41	blood

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