Variant report

Variant	rs4808114
Chromosome Location	chr19:18217873-18217874
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	chr19:18207114..18212211-chr19:18216815..18222515,8	K562	blood:
2	chr19:18206855..18210303-chr19:18216702..18222515,7	K562	blood:

Variant related genes	Relation type
ENSG00000099308	Chromatin interaction
ENSG00000096996	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11666281	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11666424	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11666906	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11668601	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273488	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs273492	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs273507	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273510	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808115	0.90[ASN][1000 genomes]
rs4808745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808751	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56252442	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56345159	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60146811	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66464318	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67234314	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72999447	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72999466	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs885683	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18215600-18219600	Weak transcription	Gastric	stomach
2	chr19:18215600-18220400	Weak transcription	Esophagus	oesophagus
3	chr19:18215600-18220400	Weak transcription	Lung	lung
4	chr19:18215800-18218200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:18215800-18219200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:18215800-18219400	Weak transcription	Hela-S3	cervix
7	chr19:18215800-18219400	Weak transcription	K562	blood
8	chr19:18215800-18219600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:18215800-18219600	Weak transcription	Brain Substantia Nigra	brain
10	chr19:18215800-18219600	Weak transcription	Colonic Mucosa	Colon
11	chr19:18215800-18219600	Weak transcription	Pancreas	Pancrea
12	chr19:18215800-18219600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr19:18215800-18219600	Weak transcription	Stomach Mucosa	stomach
14	chr19:18215800-18219600	Weak transcription	A549	lung
15	chr19:18215800-18219800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr19:18215800-18219800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:18215800-18219800	Weak transcription	Brain Anterior Caudate	brain
18	chr19:18215800-18220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:18215800-18220000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:18215800-18220000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr19:18215800-18220200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:18215800-18220200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:18215800-18220200	Weak transcription	Right Atrium	heart
24	chr19:18215800-18220200	Weak transcription	HSMMtube	muscle
25	chr19:18215800-18220400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:18215800-18220400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:18215800-18220400	Enhancers	Primary B cells from peripheral blood	blood
28	chr19:18215800-18220400	Weak transcription	Primary T cells from cord blood	blood
29	chr19:18215800-18220400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr19:18215800-18220400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:18215800-18220400	Weak transcription	Fetal Heart	heart
32	chr19:18215800-18220400	Weak transcription	Ovary	ovary
33	chr19:18215800-18220400	Weak transcription	HMEC	breast
34	chr19:18215800-18220400	Weak transcription	HSMM	muscle
35	chr19:18215800-18220400	Weak transcription	NHLF	lung
36	chr19:18215800-18220400	Weak transcription	Osteobl	bone
37	chr19:18215800-18220600	Enhancers	Primary B cells from cord blood	blood
38	chr19:18216000-18218000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr19:18216000-18218000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr19:18216000-18218000	Weak transcription	Fetal Intestine Small	intestine
41	chr19:18216000-18218000	Weak transcription	Fetal Thymus	thymus
42	chr19:18216000-18218000	Weak transcription	GM12878-XiMat	blood
43	chr19:18216000-18218000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr19:18216000-18218200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr19:18216000-18218200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:18216000-18218200	Weak transcription	Liver	Liver
47	chr19:18216000-18218200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr19:18216000-18218200	Weak transcription	Fetal Intestine Large	intestine
49	chr19:18216000-18218200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr19:18216000-18218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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