Variant report

Variant	rs8112491
Chromosome Location	chr19:53570059-53570060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53569932..53571505-chr19:53575389..53577141,2	K562	blood:
2	chr19:53569123..53571974-chr19:53605112..53607818,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VN1R2-9	chr19:53569945-53572927	NONHSAT067620

Variant related genes	Relation type
ENSG00000170949	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10419664	1.00[EUR][1000 genomes]
rs10425706	1.00[EUR][1000 genomes]
rs11880606	1.00[EUR][1000 genomes]
rs11882069	1.00[EUR][1000 genomes]
rs11882631	1.00[EUR][1000 genomes]
rs11882663	1.00[EUR][1000 genomes]
rs11883147	1.00[EUR][1000 genomes]
rs11883264	1.00[EUR][1000 genomes]
rs12461438	1.00[EUR][1000 genomes]
rs12461512	1.00[EUR][1000 genomes]
rs1550578	1.00[EUR][1000 genomes]
rs1650933	1.00[EUR][1000 genomes]
rs16984370	1.00[EUR][1000 genomes]
rs16984442	1.00[EUR][1000 genomes]
rs16984466	1.00[EUR][1000 genomes]
rs16984581	1.00[EUR][1000 genomes]
rs16984609	1.00[EUR][1000 genomes]
rs57441999	1.00[EUR][1000 genomes]
rs57583034	1.00[EUR][1000 genomes]
rs61729686	1.00[EUR][1000 genomes]
rs7250967	1.00[EUR][1000 genomes]
rs7254587	1.00[EUR][1000 genomes]
rs73599481	1.00[EUR][1000 genomes]
rs73601420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73935207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8107544	1.00[EUR][1000 genomes]
rs8111611	1.00[EUR][1000 genomes]
rs8112055	1.00[EUR][1000 genomes]
rs8112251	1.00[EUR][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	esv1800937	chr19:53514613-53573309	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53562200-53570400	Weak transcription	HSMMtube	muscle
2	chr19:53564400-53577000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:53564600-53586800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:53564800-53586600	ZNF genes & repeats	Liver	Liver
5	chr19:53565600-53570400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr19:53566000-53574400	ZNF genes & repeats	Fetal Brain Female	brain
7	chr19:53566200-53573600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
8	chr19:53566200-53577400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:53566600-53575400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr19:53566800-53570400	Weak transcription	Fetal Kidney	kidney
11	chr19:53566800-53570600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:53567000-53574200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:53567800-53576800	ZNF genes & repeats	Fetal Muscle Leg	muscle
14	chr19:53568000-53580600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
15	chr19:53568000-53586400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:53568200-53571400	Weak transcription	Right Ventricle	heart
17	chr19:53568200-53574200	ZNF genes & repeats	Fetal Lung	lung
18	chr19:53568200-53575400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:53568200-53577000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:53568200-53580600	ZNF genes & repeats	Lung	lung
21	chr19:53568400-53570400	ZNF genes & repeats	Fetal Stomach	stomach
22	chr19:53568400-53573600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
23	chr19:53568400-53577800	ZNF genes & repeats	Fetal Intestine Large	intestine
24	chr19:53568400-53580600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr19:53568400-53588600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:53568600-53570400	Weak transcription	Brain Substantia Nigra	brain
27	chr19:53568600-53570400	Weak transcription	Dnd41	blood
28	chr19:53568600-53570800	Weak transcription	Fetal Brain Male	brain
29	chr19:53568800-53571000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:53568800-53571000	Weak transcription	Brain Angular Gyrus	brain
31	chr19:53569000-53573200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:53569000-53573600	Strong transcription	Brain Anterior Caudate	brain
33	chr19:53569000-53574200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr19:53569000-53574800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:53569000-53579200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:53569200-53574200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:53569200-53574200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
38	chr19:53569400-53570200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:53569400-53571000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:53569400-53573400	ZNF genes & repeats	A549	lung
41	chr19:53569400-53573600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
42	chr19:53569400-53573600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
43	chr19:53569400-53573800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr19:53569400-53573800	ZNF genes & repeats	HSMM	muscle
45	chr19:53569400-53574200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr19:53569400-53574400	Strong transcription	Placenta	Placenta
47	chr19:53569400-53574800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:53569400-53575000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:53569400-53575000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
50	chr19:53569400-53575200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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