Variant report

Variant	rs73547648
Chromosome Location	chr19:40522073-40522074
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr19:40519569-40522135	U2OS	brain:	n/a	n/a
2	POLR2A	chr19:40519945-40522295	K562	blood:	n/a	n/a
3	POLR2A	chr19:40521969-40523402	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr19:40517320-40525363	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr19:40522001-40522085	A549	lung:	n/a	n/a
6	GATA3	chr19:40519564-40522205	A549	lung:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40520246..40523221-chr19:40527503..40530294,2	K562	blood:
2	chr19:40520341..40522642-chr19:40525632..40527204,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF780B-1	chr19:40521102-40522954	NONHSAT066336

No data

Variant related genes	Relation type
ENSG00000268166	TF binding region
ENSG00000268166	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7258510	1.00[AMR][1000 genomes]
rs73543984	1.00[AFR][1000 genomes]
rs73553673	1.00[AMR][1000 genomes]
rs73555557	1.00[AMR][1000 genomes]
rs73555567	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40504000-40533800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:40512000-40527200	ZNF genes & repeats	Liver	Liver
3	chr19:40513600-40522200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:40514000-40523000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:40515600-40522200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:40517400-40522800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:40517600-40522200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:40517600-40522200	ZNF genes & repeats	Primary T cells from cord blood	blood
9	chr19:40517600-40522200	ZNF genes & repeats	Fetal Lung	lung
10	chr19:40517600-40522400	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr19:40517600-40522400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr19:40519200-40522200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
13	chr19:40519200-40522400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
14	chr19:40519200-40522400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr19:40519400-40522200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr19:40519600-40522200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr19:40519600-40522400	ZNF genes & repeats	Left Ventricle	heart
18	chr19:40519800-40522200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:40519800-40522400	ZNF genes & repeats	Aorta	Aorta
20	chr19:40521000-40522200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr19:40521200-40540800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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