Variant report

Variant	rs62123563
Chromosome Location	chr19:18222073-18222074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18221176..18222928-chr19:18303351..18306807,3	MCF-7	breast:
2	chr19:18207114..18212211-chr19:18216815..18222515,8	K562	blood:
3	chr19:18222052..18223818-chr19:18225368..18228034,2	K562	blood:
4	chr19:18220648..18224657-chr19:18263294..18266426,4	MCF-7	breast:
5	chr19:18212286..18215069-chr19:18221126..18224068,2	K562	blood:
6	chr19:18221264..18223829-chr19:18389747..18393451,3	K562	blood:
7	chr19:18218649..18221003-chr19:18221260..18223679,2	K562	blood:
8	chr19:18221370..18225570-chr19:18281074..18286554,5	K562	blood:
9	chr19:18206855..18210303-chr19:18216702..18222515,7	K562	blood:
10	chr19:18218810..18222219-chr19:18263257..18265639,4	K562	blood:
11	chr19:18219638..18222219-chr19:18263591..18265639,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000096996	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000099308	Chromatin interaction
ENSG00000216490	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000267959	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11086090	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11086092	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11086093	0.80[EUR][1000 genomes]
rs12052062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12459449	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12460262	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12460575	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12461029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12462442	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12609740	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12610206	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12611216	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3826967	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs45492191	0.85[AMR][1000 genomes]
rs60963202	0.86[EUR][1000 genomes]
rs62121152	0.82[EUR][1000 genomes]
rs62121153	0.86[EUR][1000 genomes]
rs62121154	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62123564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123565	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62123566	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62123567	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62123569	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62123598	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62123599	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62123601	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62123602	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62123603	0.84[EUR][1000 genomes]
rs62123604	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62123605	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62123606	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62123608	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs740692	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs740693	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv833773	chr19:18152971-18302988	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv911241	chr19:18193191-18304700	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv911242	chr19:18201757-18304700	Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv911243	chr19:18206681-18283501	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv911244	chr19:18206681-18304700	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv911245	chr19:18206681-18338101	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
12	nsv833774	chr19:18213761-18295329	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
13	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18221200-18222200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
2	chr19:18221400-18222200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
3	chr19:18221400-18222200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr19:18221400-18222200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
5	chr19:18221400-18222400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr19:18221600-18222200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr19:18221600-18222200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr19:18221600-18222200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr19:18221600-18222200	Active TSS	Rectal Smooth Muscle	rectum
10	chr19:18221600-18222200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr19:18221600-18222600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:18221600-18223600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:18221600-18223600	Weak transcription	Brain Angular Gyrus	brain
14	chr19:18221600-18224400	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr19:18221600-18226000	Weak transcription	Aorta	Aorta
16	chr19:18221600-18228000	Weak transcription	Ovary	ovary
17	chr19:18221600-18228200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:18221600-18228200	Weak transcription	Left Ventricle	heart
19	chr19:18221800-18222200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:18221800-18222200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:18221800-18222200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr19:18221800-18222200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr19:18221800-18222200	Genic enhancers	Brain Substantia Nigra	brain
24	chr19:18221800-18222200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr19:18221800-18222200	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr19:18221800-18222200	Enhancers	Placenta	Placenta
27	chr19:18221800-18222200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
28	chr19:18221800-18222200	ZNF genes & repeats	Thymus	Thymus
29	chr19:18221800-18222200	Strong transcription	Spleen	Spleen
30	chr19:18221800-18222200	Genic enhancers	GM12878-XiMat	blood
31	chr19:18221800-18222200	Enhancers	HepG2	liver
32	chr19:18221800-18222400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
33	chr19:18221800-18222400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:18221800-18222400	Enhancers	Stomach Mucosa	stomach
35	chr19:18221800-18222600	Weak transcription	Brain Anterior Caudate	brain
36	chr19:18221800-18223200	Genic enhancers	Liver	Liver
37	chr19:18221800-18223600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr19:18221800-18223600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:18221800-18223600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr19:18221800-18223600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr19:18221800-18223600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr19:18221800-18223600	Weak transcription	Fetal Thymus	thymus
43	chr19:18221800-18223800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:18221800-18224200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
45	chr19:18221800-18224200	Genic enhancers	Brain Inferior Temporal Lobe	brain
46	chr19:18221800-18224600	Weak transcription	Lung	lung
47	chr19:18221800-18226000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr19:18221800-18226400	Weak transcription	Osteobl	bone
49	chr19:18221800-18227800	Weak transcription	Colon Smooth Muscle	Colon
50	chr19:18221800-18228000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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