Variant report

Variant	rs73930688
Chromosome Location	chr19:40542426-40542427
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	chr19:40527957..40529948-chr19:40541026..40542619,2	K562	blood:

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

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

rs_ID	r²[population]
rs16974071	1.00[AMR][1000 genomes]
rs55762434	1.00[AMR][1000 genomes]
rs55795637	1.00[AMR][1000 genomes]
rs58622948	1.00[AMR][1000 genomes]
rs73930656	1.00[AMR][1000 genomes]
rs73930673	1.00[AMR][1000 genomes]
rs73930685	1.00[AMR][1000 genomes]
rs73930687	1.00[AMR][1000 genomes]
rs73930693	1.00[AMR][1000 genomes]
rs73930697	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40528600-40543800	ZNF genes & repeats	Liver	Liver
2	chr19:40529000-40543800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:40529200-40543800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:40529200-40543800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:40530600-40543800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:40535000-40543800	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr19:40536000-40543800	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:40536400-40543600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:40536600-40543800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:40537400-40542600	ZNF genes & repeats	Dnd41	blood
11	chr19:40537400-40543000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr19:40537400-40543000	ZNF genes & repeats	Brain Anterior Caudate	brain
13	chr19:40537400-40543800	ZNF genes & repeats	Brain Hippocampus Middle	brain
14	chr19:40537600-40543400	ZNF genes & repeats	A549	lung
15	chr19:40537600-40543600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr19:40537800-40543200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:40538800-40542800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr19:40538800-40543800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr19:40539000-40543600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
20	chr19:40539200-40543800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:40539400-40543600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:40539400-40543600	ZNF genes & repeats	Fetal Lung	lung
23	chr19:40539600-40543400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
24	chr19:40539600-40543600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:40539600-40543600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:40539600-40543800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr19:40539600-40543800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
28	chr19:40539800-40543800	ZNF genes & repeats	Psoas Muscle	Psoas
29	chr19:40540000-40542800	ZNF genes & repeats	Brain Substantia Nigra	brain
30	chr19:40540400-40543400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
31	chr19:40540400-40543800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr19:40540600-40542800	Weak transcription	Pancreas	Pancrea
33	chr19:40540800-40543600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:40541000-40542800	Strong transcription	Brain Germinal Matrix	brain
35	chr19:40541200-40543600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:40541400-40543600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:40541400-40549200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:40541600-40543000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
39	chr19:40541800-40542800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:40541800-40543000	ZNF genes & repeats	Fetal Brain Male	brain
41	chr19:40542000-40542600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
42	chr19:40542000-40542800	Weak transcription	Left Ventricle	heart
43	chr19:40542000-40549000	Weak transcription	Ovary	ovary
44	chr19:40542200-40549200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:40542200-40549200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr19:40542200-40549800	Weak transcription	HSMMtube	muscle
47	chr19:40542400-40543200	Weak transcription	Primary B cells from cord blood	blood
48	chr19:40542400-40543400	Weak transcription	Brain Angular Gyrus	brain
49	chr19:40542400-40549400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:40542400-40549400	Weak transcription	HepG2	liver

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