Variant report

Variant	rs427461
Chromosome Location	chr19:40579842-40579843
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs170900	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs186816	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2231738	0.83[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs234340	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs234365	0.83[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2355720	0.83[CHB][hapmap]
rs337780	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs337782	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3754	0.95[ASN][1000 genomes]
rs3760919	0.83[CHB][hapmap]
rs3760923	0.83[CHB][hapmap]
rs3786938	0.82[CHB][hapmap]
rs3826919	0.83[CEU][hapmap];0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs424365	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55798334	0.89[EUR][1000 genomes]
rs59030876	0.84[EUR][1000 genomes]
rs7249286	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8106269	0.83[CEU][hapmap];0.89[CHB][hapmap]
rs8109718	0.83[CHB][hapmap]

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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40566000-40580000	Weak transcription	Fetal Heart	heart
2	chr19:40572400-40580000	Weak transcription	Lung	lung
3	chr19:40572400-40580000	Weak transcription	Pancreas	Pancrea
4	chr19:40573000-40580000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr19:40573800-40580000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr19:40574000-40580000	Weak transcription	Right Ventricle	heart
7	chr19:40574400-40580000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr19:40574400-40582400	Weak transcription	Fetal Stomach	stomach
9	chr19:40574800-40580000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:40575200-40580000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:40575400-40580200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:40577000-40580000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr19:40578200-40580000	Weak transcription	Placenta	Placenta
14	chr19:40578400-40580200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:40578400-40580200	Weak transcription	NHDF-Ad	bronchial
16	chr19:40578600-40580000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr19:40578600-40580200	Weak transcription	Gastric	stomach
18	chr19:40578600-40586200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr19:40578600-40586600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:40578600-40586600	ZNF genes & repeats	Liver	Liver
21	chr19:40578600-40586600	ZNF genes & repeats	A549	lung
22	chr19:40578600-40586800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:40578600-40590400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:40578800-40580200	Strong transcription	Brain Germinal Matrix	brain
25	chr19:40578800-40581000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:40578800-40582000	Strong transcription	Dnd41	blood
27	chr19:40578800-40582400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:40578800-40582600	Strong transcription	Colonic Mucosa	Colon
29	chr19:40578800-40583600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
30	chr19:40578800-40586600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr19:40578800-40587200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:40579000-40580000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:40579000-40583200	ZNF genes & repeats	NH-A	brain
34	chr19:40579000-40583400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr19:40579000-40583600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr19:40579000-40583600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr19:40579000-40584600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr19:40579000-40586600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
39	chr19:40579000-40587000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:40579000-40587000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr19:40579200-40580000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:40579200-40580200	Strong transcription	Left Ventricle	heart
43	chr19:40579200-40580800	Weak transcription	Stomach Mucosa	stomach
44	chr19:40579200-40581400	ZNF genes & repeats	HSMMtube	muscle
45	chr19:40579200-40581600	Strong transcription	Fetal Brain Female	brain
46	chr19:40579200-40581800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:40579200-40583400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
48	chr19:40579200-40583600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:40579200-40583600	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:40579200-40583800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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