Variant report

Variant	rs10418505
Chromosome Location	chr19:53592456-53592457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10406237	1.00[ASN][1000 genomes]
rs10409615	1.00[ASN][1000 genomes]
rs10410030	1.00[ASN][1000 genomes]
rs10412805	1.00[ASN][1000 genomes]
rs16984438	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16984443	1.00[ASN][1000 genomes]
rs16984486	1.00[ASN][1000 genomes]
rs28368410	1.00[ASN][1000 genomes]
rs28528321	1.00[ASN][1000 genomes]
rs28661145	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28662846	1.00[ASN][1000 genomes]
rs28691095	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28701520	1.00[ASN][1000 genomes]
rs28726276	1.00[ASN][1000 genomes]
rs58143828	1.00[ASN][1000 genomes]
rs6509721	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6509725	1.00[ASN][1000 genomes]
rs7247568	1.00[ASN][1000 genomes]
rs7253566	1.00[ASN][1000 genomes]
rs73935216	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73935236	1.00[ASN][1000 genomes]
rs8099848	1.00[ASN][1000 genomes]
rs8100134	1.00[ASN][1000 genomes]
rs8102799	1.00[ASN][1000 genomes]
rs8113824	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530807	chr19:53210488-53695881	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3326632	chr19:53371248-53697569	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758506	chr19:53410459-53652575	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv2758769	chr19:53410459-53652575	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers 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	30 gene(s)	inside rSNPs	diseases
5	nsv428370	chr19:53410459-53652575	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
9	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53573600-53604800	Weak transcription	Hela-S3	cervix
2	chr19:53574800-53599600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:53575600-53598600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:53575600-53601000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr19:53576800-53605200	Weak transcription	Stomach Mucosa	stomach
6	chr19:53578800-53593400	Weak transcription	HepG2	liver
7	chr19:53580600-53597800	Weak transcription	Fetal Heart	heart
8	chr19:53584000-53599000	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr19:53584200-53595000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:53584200-53595200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:53584400-53595200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:53584400-53596400	Strong transcription	Fetal Brain Female	brain
13	chr19:53584400-53598000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:53584600-53594600	Strong transcription	Stomach Smooth Muscle	stomach
15	chr19:53584600-53595000	Strong transcription	Brain Cingulate Gyrus	brain
16	chr19:53584600-53599400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:53584600-53599800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:53584800-53595400	Strong transcription	Brain Germinal Matrix	brain
19	chr19:53585000-53595200	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr19:53585000-53597000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr19:53585200-53596200	Strong transcription	Thymus	Thymus
22	chr19:53585200-53596400	Strong transcription	Dnd41	blood
23	chr19:53585200-53597800	Strong transcription	Placenta	Placenta
24	chr19:53585200-53599400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:53585200-53599600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr19:53585400-53594400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr19:53585400-53594400	Strong transcription	Primary B cells from cord blood	blood
28	chr19:53585400-53594400	Strong transcription	Fetal Lung	lung
29	chr19:53585400-53595200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr19:53585400-53595200	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr19:53585400-53604800	Weak transcription	Psoas Muscle	Psoas
32	chr19:53585600-53595200	Strong transcription	Brain Angular Gyrus	brain
33	chr19:53585600-53595200	Strong transcription	Gastric	stomach
34	chr19:53585600-53598800	Strong transcription	HSMMtube	muscle
35	chr19:53585600-53599000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:53585600-53599200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:53585800-53592600	Strong transcription	K562	blood
38	chr19:53585800-53595200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:53585800-53597800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr19:53586000-53594400	Strong transcription	Rectal Smooth Muscle	rectum
41	chr19:53586000-53595200	Strong transcription	Fetal Thymus	thymus
42	chr19:53586000-53595600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr19:53586000-53599000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr19:53586000-53599200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:53586000-53599600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr19:53586200-53595000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:53586200-53595000	Strong transcription	Ovary	ovary
48	chr19:53586200-53595200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr19:53586200-53598800	Strong transcription	Fetal Stomach	stomach
50	chr19:53586400-53595200	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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