Variant report

Variant	rs73568467
Chromosome Location	chr19:44951616-44951617
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44699013..44701606-chr19:44950381..44952368,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16979018	1.00[EUR][1000 genomes]
rs57371815	1.00[AMR][1000 genomes]
rs7246931	1.00[EUR][1000 genomes]
rs73558071	1.00[AMR][1000 genomes]
rs73560660	1.00[AMR][1000 genomes]
rs73560684	1.00[AMR][1000 genomes]
rs73562502	1.00[AMR][1000 genomes]
rs73564845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44928400-44951800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:44932000-44953200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr19:44936400-44952000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:44937400-44951800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:44938400-44951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:44940600-44951800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:44940600-44951800	Weak transcription	Fetal Thymus	thymus
8	chr19:44942200-44951800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:44942600-44952000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:44944400-44952200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr19:44944600-44952200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr19:44945600-44951800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:44946200-44951800	Weak transcription	HUVEC	blood vessel
14	chr19:44946400-44953000	ZNF genes & repeats	Aorta	Aorta
15	chr19:44947000-44951800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:44947800-44951800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:44948200-44951800	ZNF genes & repeats	A549	lung
18	chr19:44948200-44959800	ZNF genes & repeats	Liver	Liver
19	chr19:44948400-44952200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:44948600-44953200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
21	chr19:44948800-44951800	Strong transcription	Fetal Intestine Large	intestine
22	chr19:44948800-44951800	Weak transcription	NH-A	brain
23	chr19:44949600-44954200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr19:44949800-44951800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:44949800-44951800	ZNF genes & repeats	Primary T cells from cord blood	blood
26	chr19:44950000-44952000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
27	chr19:44950400-44951800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:44950400-44951800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:44950400-44951800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:44950400-44951800	Weak transcription	Esophagus	oesophagus
31	chr19:44950400-44951800	Weak transcription	Placenta	Placenta
32	chr19:44950400-44951800	Weak transcription	Fetal Stomach	stomach
33	chr19:44950400-44951800	Weak transcription	Left Ventricle	heart
34	chr19:44950400-44951800	Weak transcription	Pancreas	Pancrea
35	chr19:44951000-44951800	Weak transcription	Brain Substantia Nigra	brain
36	chr19:44951000-44951800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr19:44951000-44951800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr19:44951000-44952200	ZNF genes & repeats	Fetal Muscle Leg	muscle
39	chr19:44951200-44951800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:44951200-44951800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr19:44951200-44951800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr19:44951200-44951800	Weak transcription	Adipose Nuclei	Adipose
43	chr19:44951200-44951800	Weak transcription	Fetal Kidney	kidney
44	chr19:44951200-44952200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
45	chr19:44951200-44953200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:44951400-44951800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:44951400-44951800	Weak transcription	Brain Hippocampus Middle	brain
48	chr19:44951400-44951800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr19:44951400-44951800	Enhancers	Fetal Heart	heart
50	chr19:44951400-44951800	Enhancers	Right Ventricle	heart

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