Variant report

Variant	rs73930994
Chromosome Location	chr19:37953762-37953763
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37944275..37946882-chr19:37951958..37954402,2	K562	blood:

Variant related genes	Relation type
ENSG00000196437	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57264082	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930979	1.00[AMR][1000 genomes]
rs73930982	1.00[AMR][1000 genomes]
rs73930989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930992	0.91[AFR][1000 genomes]
rs73930993	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription 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	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong 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	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37898000-37956400	ZNF genes & repeats	Liver	Liver
2	chr19:37910800-37956000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37911200-37954600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:37938000-37956000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:37938200-37956200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:37940800-37954200	ZNF genes & repeats	Brain Hippocampus Middle	brain
7	chr19:37940800-37956800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:37942400-37954400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
9	chr19:37942400-37954600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
10	chr19:37942400-37956000	ZNF genes & repeats	Fetal Lung	lung
11	chr19:37942400-37956200	ZNF genes & repeats	Fetal Brain Female	brain
12	chr19:37942400-37957200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:37942600-37953800	ZNF genes & repeats	Brain Substantia Nigra	brain
14	chr19:37942600-37956000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:37942600-37956600	ZNF genes & repeats	Dnd41	blood
16	chr19:37943600-37954000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:37943600-37956800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:37944200-37957000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:37944600-37954000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
20	chr19:37944600-37954400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
21	chr19:37944600-37954800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
22	chr19:37944600-37956200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chr19:37944600-37956400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:37944600-37957000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr19:37944800-37954000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr19:37944800-37954600	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr19:37944800-37956200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:37944800-37956200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
29	chr19:37944800-37957000	ZNF genes & repeats	A549	lung
30	chr19:37946200-37957400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr19:37946800-37956800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:37946800-37957000	Weak transcription	NH-A	brain
33	chr19:37946800-37957200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:37947600-37954200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:37947600-37955600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:37948800-37954200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
37	chr19:37949000-37954400	ZNF genes & repeats	Brain Anterior Caudate	brain
38	chr19:37949200-37955800	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr19:37949600-37954000	Weak transcription	HSMMtube	muscle
40	chr19:37949600-37957000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr19:37950000-37953800	ZNF genes & repeats	Brain Angular Gyrus	brain
42	chr19:37950000-37955400	Weak transcription	HUVEC	blood vessel
43	chr19:37950400-37954000	Weak transcription	NHDF-Ad	bronchial
44	chr19:37950400-37954400	ZNF genes & repeats	Brain Germinal Matrix	brain
45	chr19:37950400-37955400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr19:37950600-37955400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:37950800-37954600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
48	chr19:37950800-37956200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:37951000-37953800	ZNF genes & repeats	Small Intestine	intestine
50	chr19:37951000-37954000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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