Variant report

Variant	rs73040573
Chromosome Location	chr19:40584071-40584072
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	chr19:40583256..40586703-chr19:40587520..40590311,6	K562	blood:
2	chr19:40582703..40584823-chr19:40586769..40589020,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11878670	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11879271	0.84[AFR][1000 genomes]
rs11880843	0.86[ASN][1000 genomes]
rs11881551	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11883342	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12052060	0.84[AFR][1000 genomes]
rs12052169	0.83[AFR][1000 genomes]
rs16974069	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3760921	0.83[AFR][1000 genomes]
rs55673424	0.86[ASN][1000 genomes]
rs55718963	0.86[ASN][1000 genomes]
rs55838062	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55873814	0.86[ASN][1000 genomes]
rs56040936	0.88[AFR][1000 genomes]
rs7250934	0.86[ASN][1000 genomes]
rs73040535	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73040537	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73040542	0.85[ASN][1000 genomes]
rs73040556	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040578	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73052616	0.84[AFR][1000 genomes]
rs73052630	0.84[AFR][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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40578600-40586200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
2	chr19:40578600-40586600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:40578600-40586600	ZNF genes & repeats	Liver	Liver
4	chr19:40578600-40586600	ZNF genes & repeats	A549	lung
5	chr19:40578600-40586800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:40578600-40590400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:40578800-40586600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr19:40578800-40587200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:40579000-40584600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr19:40579000-40586600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:40579000-40587000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:40579000-40587000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr19:40579200-40584600	ZNF genes & repeats	Fetal Muscle Leg	muscle
14	chr19:40579200-40585000	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr19:40579200-40585600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
16	chr19:40579200-40585600	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr19:40579200-40585800	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr19:40579200-40586600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
19	chr19:40579200-40586600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr19:40579200-40586800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:40579200-40586800	ZNF genes & repeats	GM12878-XiMat	blood
22	chr19:40579200-40589600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:40579400-40585000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
24	chr19:40579400-40585400	Strong transcription	HepG2	liver
25	chr19:40579400-40590400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:40579600-40584400	ZNF genes & repeats	K562	blood
27	chr19:40579600-40586600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
28	chr19:40579600-40590800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr19:40579600-40591200	Strong transcription	Fetal Thymus	thymus
30	chr19:40579800-40584800	ZNF genes & repeats	Fetal Kidney	kidney
31	chr19:40579800-40585000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
32	chr19:40579800-40586800	Strong transcription	Fetal Brain Male	brain
33	chr19:40580000-40584200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:40580000-40584200	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr19:40580000-40584800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:40580000-40586600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:40580600-40591000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:40581600-40586600	ZNF genes & repeats	Fetal Brain Female	brain
39	chr19:40581800-40586200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:40581800-40587000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr19:40581800-40595600	Weak transcription	Stomach Mucosa	stomach
42	chr19:40582000-40585000	ZNF genes & repeats	Fetal Intestine Large	intestine
43	chr19:40582000-40586400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr19:40582000-40586600	ZNF genes & repeats	Dnd41	blood
45	chr19:40582000-40591200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr19:40582200-40588800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr19:40582400-40584400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr19:40582400-40585000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:40583000-40586200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:40583000-40595400	Weak transcription	NHLF	lung

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