Variant report

Variant	rs8109597
Chromosome Location	chr19:56729657-56729658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10415616	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10853884	0.81[AFR][1000 genomes]
rs9304774	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
4	nsv828646	chr19:56701465-56736526	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv828647	chr19:56701488-56758401	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3345953	chr19:56702268-56734127	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1058152	chr19:56703368-56805035	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv544093	chr19:56703368-56805035	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1065286	chr19:56709253-56741015	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1058119	chr19:56709253-56744629	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3528005	chr19:56712029-56750105	Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	esv3528006	chr19:56712029-56750105	Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	esv7336	chr19:56712118-56750459	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	esv3365117	chr19:56718267-56756501	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv960878	chr19:56720855-56730391	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
16	nsv580355	chr19:56723492-56752892	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv580356	chr19:56723492-56762780	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	esv3330994	chr19:56725587-56743074	Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv3384748	chr19:56727320-56744483	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56727600-56735800	Weak transcription	A549	lung
2	chr19:56728800-56735800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr19:56729000-56739800	Weak transcription	Aorta	Aorta
4	chr19:56729200-56730400	Weak transcription	Lung	lung
5	chr19:56729200-56732400	Weak transcription	Right Atrium	heart
6	chr19:56729200-56732800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr19:56729200-56732800	Weak transcription	HepG2	liver
8	chr19:56729200-56733200	Weak transcription	Ovary	ovary
9	chr19:56729200-56737800	Weak transcription	Gastric	stomach
10	chr19:56729200-56803000	Weak transcription	Pancreas	Pancrea
11	chr19:56729400-56729800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:56729400-56731800	Weak transcription	Fetal Stomach	stomach
13	chr19:56729400-56732000	Weak transcription	Brain Hippocampus Middle	brain
14	chr19:56729400-56732200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:56729400-56732800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr19:56729400-56732800	Weak transcription	Thymus	Thymus
17	chr19:56729400-56733000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:56729400-56733200	Weak transcription	Liver	Liver
19	chr19:56729400-56733200	Weak transcription	Spleen	Spleen
20	chr19:56729400-56733400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:56729400-56733400	Weak transcription	Left Ventricle	heart
22	chr19:56729400-56733600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr19:56729400-56733600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr19:56729400-56734600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:56729400-56734800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:56729400-56735000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:56729400-56735600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:56729400-56735600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:56729400-56736200	Weak transcription	Adipose Nuclei	Adipose
30	chr19:56729400-56736400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr19:56729400-56736600	Weak transcription	Esophagus	oesophagus
32	chr19:56729400-56736800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:56729600-56732600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr19:56729600-56732800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr19:56729600-56735800	Weak transcription	Fetal Brain Female	brain
36	chr19:56729600-56736200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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