Variant report

Variant	rs28691095
Chromosome Location	chr19:53590928-53590929
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	chr19:53588688..53591621-chr19:53593968..53598410,4	K562	blood:

Extended variants
information (count: 35 )
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]
rs10418505	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16984438	0.96[AMR][1000 genomes];0.80[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	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28662846	1.00[ASN][1000 genomes]
rs28701520	1.00[ASN][1000 genomes]
rs28726276	1.00[ASN][1000 genomes]
rs58143828	1.00[ASN][1000 genomes]
rs6509721	0.83[AFR][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];0.87[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:10 , 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

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	chr19:53581000-53591200	Strong transcription	Fetal Intestine Large	intestine
9	chr19:53584000-53599000	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr19:53584200-53595000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:53584200-53595200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:53584400-53595200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:53584400-53596400	Strong transcription	Fetal Brain Female	brain
14	chr19:53584400-53598000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:53584600-53594600	Strong transcription	Stomach Smooth Muscle	stomach
16	chr19:53584600-53595000	Strong transcription	Brain Cingulate Gyrus	brain
17	chr19:53584600-53599400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:53584600-53599800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:53584800-53595400	Strong transcription	Brain Germinal Matrix	brain
20	chr19:53585000-53595200	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr19:53585000-53597000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr19:53585200-53596200	Strong transcription	Thymus	Thymus
23	chr19:53585200-53596400	Strong transcription	Dnd41	blood
24	chr19:53585200-53597800	Strong transcription	Placenta	Placenta
25	chr19:53585200-53599400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:53585200-53599600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr19:53585400-53594400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr19:53585400-53594400	Strong transcription	Primary B cells from cord blood	blood
29	chr19:53585400-53594400	Strong transcription	Fetal Lung	lung
30	chr19:53585400-53595200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr19:53585400-53595200	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr19:53585400-53604800	Weak transcription	Psoas Muscle	Psoas
33	chr19:53585600-53595200	Strong transcription	Brain Angular Gyrus	brain
34	chr19:53585600-53595200	Strong transcription	Gastric	stomach
35	chr19:53585600-53598800	Strong transcription	HSMMtube	muscle
36	chr19:53585600-53599000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:53585600-53599200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:53585800-53591400	Strong transcription	Pancreas	Pancrea
39	chr19:53585800-53592600	Strong transcription	K562	blood
40	chr19:53585800-53595200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:53585800-53597800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr19:53586000-53594400	Strong transcription	Rectal Smooth Muscle	rectum
43	chr19:53586000-53595200	Strong transcription	Fetal Thymus	thymus
44	chr19:53586000-53595600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr19:53586000-53599000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:53586000-53599200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:53586000-53599600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr19:53586200-53595000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:53586200-53595000	Strong transcription	Ovary	ovary
50	chr19:53586200-53595200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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