Variant report

Variant	rs73578242
Chromosome Location	chr19:53061089-53061090
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10411461	1.00[EUR][1000 genomes]
rs11882836	1.00[EUR][1000 genomes]
rs2162932	1.00[EUR][1000 genomes]
rs2447422	1.00[EUR][1000 genomes]
rs2931759	1.00[EUR][1000 genomes]
rs2931760	1.00[EUR][1000 genomes]
rs55753173	1.00[EUR][1000 genomes]
rs57548816	1.00[EUR][1000 genomes]
rs58325433	1.00[EUR][1000 genomes]
rs59230195	1.00[EUR][1000 genomes]
rs60194947	1.00[EUR][1000 genomes]
rs60238878	1.00[EUR][1000 genomes]
rs60404252	1.00[EUR][1000 genomes]
rs60856351	1.00[EUR][1000 genomes]
rs73576268	1.00[EUR][1000 genomes]
rs73576294	1.00[EUR][1000 genomes]
rs73584860	1.00[EUR][1000 genomes]
rs73584871	1.00[EUR][1000 genomes]
rs73584874	1.00[EUR][1000 genomes]
rs73586713	1.00[EUR][1000 genomes]
rs73934550	1.00[EUR][1000 genomes]
rs73934555	1.00[EUR][1000 genomes]
rs8109739	1.00[EUR][1000 genomes]
rs8110537	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv510772	chr19:53037211-53103470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53042000-53070400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:53042200-53068200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr19:53042600-53061200	ZNF genes & repeats	Liver	Liver
4	chr19:53044800-53061200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:53046400-53069200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:53047400-53068200	ZNF genes & repeats	Thymus	Thymus
7	chr19:53047800-53068600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:53048000-53066400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
9	chr19:53048600-53061200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr19:53049400-53063800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr19:53050400-53065400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
12	chr19:53050400-53069200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:53050600-53061200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:53050800-53061200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:53051000-53061400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
16	chr19:53051000-53068000	ZNF genes & repeats	Fetal Intestine Large	intestine
17	chr19:53051200-53061200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr19:53051400-53068200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr19:53051600-53061200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:53051600-53061200	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr19:53051600-53061400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:53051600-53061600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:53051600-53068000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:53051600-53068200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
25	chr19:53051600-53073200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:53052000-53067400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
27	chr19:53052000-53067800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:53052200-53063400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
29	chr19:53052200-53067800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
30	chr19:53053600-53067800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
31	chr19:53054200-53061200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr19:53054200-53061200	ZNF genes & repeats	Left Ventricle	heart
33	chr19:53054600-53064200	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr19:53055200-53061200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
35	chr19:53055800-53061200	ZNF genes & repeats	HMEC	breast
36	chr19:53056000-53061400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr19:53056200-53065800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:53056600-53065400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:53057000-53061200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:53057200-53061400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
41	chr19:53057200-53062800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
42	chr19:53057600-53064200	ZNF genes & repeats	Placenta	Placenta
43	chr19:53058400-53072600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:53058600-53065200	Weak transcription	Brain Substantia Nigra	brain
45	chr19:53058600-53070000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr19:53058600-53072800	Weak transcription	Fetal Brain Male	brain
47	chr19:53058800-53070000	Weak transcription	Hela-S3	cervix
48	chr19:53059000-53062000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr19:53059000-53062200	Weak transcription	Right Ventricle	heart
50	chr19:53059000-53064600	Weak transcription	Brain Inferior Temporal Lobe	brain

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