Variant report

Variant	rs4808821
Chromosome Location	chr19:18688985-18688986
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18671549..18675239-chr19:18688508..18691230,4	K562	blood:
2	chr19:18631578..18634623-chr19:18688781..18690661,3	K562	blood:
3	chr19:18688171..18690449-chr19:18859750..18861413,2	MCF-7	breast:
4	chr19:18688421..18691115-chr19:18697515..18700265,3	K562	blood:
5	chr19:18685737..18689884-chr19:18697340..18702135,5	MCF-7	breast:
6	chr19:18631578..18633259-chr19:18688781..18690661,2	K562	blood:
7	chr19:18624925..18627602-chr19:18688802..18692839,3	K562	blood:
8	chr19:18685970..18689439-chr19:18690944..18695066,3	MCF-7	breast:
9	chr19:18627652..18630602-chr19:18688456..18690263,2	K562	blood:
10	chr19:18666982..18671000-chr19:18686640..18690088,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105700	Chromatin interaction
ENSG00000268030	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000105656	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10402321	0.82[ASN][1000 genomes]
rs10425018	0.90[ASN][1000 genomes]
rs11086116	0.85[ASN][1000 genomes]
rs11667551	0.91[ASN][1000 genomes]
rs11672297	0.94[ASN][1000 genomes]
rs12150991	0.91[ASN][1000 genomes]
rs12608925	0.91[ASN][1000 genomes]
rs12609505	0.85[ASN][1000 genomes]
rs1468475	0.92[ASN][1000 genomes]
rs2057649	0.86[ASN][1000 genomes]
rs2058077	0.92[ASN][1000 genomes]
rs2079015	0.87[ASN][1000 genomes]
rs2079016	0.86[ASN][1000 genomes]
rs2283616	0.90[ASN][1000 genomes]
rs2302055	0.91[ASN][1000 genomes]
rs2314664	0.86[ASN][1000 genomes]
rs2314665	0.87[ASN][1000 genomes]
rs2314666	0.87[ASN][1000 genomes]
rs2314667	0.87[ASN][1000 genomes]
rs28451415	0.92[ASN][1000 genomes]
rs28711754	0.87[ASN][1000 genomes]
rs28884574	0.82[ASN][1000 genomes]
rs35867875	0.90[ASN][1000 genomes]
rs35875334	0.89[ASN][1000 genomes]
rs36050418	0.93[ASN][1000 genomes]
rs3761034	0.86[ASN][1000 genomes]
rs3761036	0.83[ASN][1000 genomes]
rs3803917	0.82[ASN][1000 genomes]
rs4629093	0.87[ASN][1000 genomes]
rs4808137	0.91[ASN][1000 genomes]
rs55724121	0.94[ASN][1000 genomes]
rs55888366	0.87[ASN][1000 genomes]
rs58782998	0.86[ASN][1000 genomes]
rs59798925	0.89[ASN][1000 genomes]
rs62137086	0.89[ASN][1000 genomes]
rs6554	0.92[ASN][1000 genomes]
rs7247557	0.84[ASN][1000 genomes]
rs7253088	0.93[ASN][1000 genomes]
rs7254004	0.92[ASN][1000 genomes]
rs7648	0.91[ASN][1000 genomes]
rs8110371	0.83[ASN][1000 genomes]
rs8110374	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv911283	chr19:18626732-18689830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
9	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18684200-18689400	Weak transcription	Fetal Heart	heart
2	chr19:18684200-18690200	Strong transcription	Fetal Brain Female	brain
3	chr19:18684400-18689000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr19:18684400-18689200	Strong transcription	Fetal Muscle Trunk	muscle
5	chr19:18684400-18689400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr19:18684400-18689400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:18684400-18689400	Strong transcription	Liver	Liver
8	chr19:18684400-18689600	Strong transcription	Fetal Stomach	stomach
9	chr19:18684400-18689600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr19:18684400-18689800	Strong transcription	Brain Anterior Caudate	brain
11	chr19:18684400-18689800	Strong transcription	Brain Hippocampus Middle	brain
12	chr19:18684400-18689800	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr19:18684400-18690200	Strong transcription	Primary T cells from cord blood	blood
14	chr19:18684400-18691400	Weak transcription	Fetal Brain Male	brain
15	chr19:18684400-18698600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr19:18684600-18689000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr19:18684600-18689000	Strong transcription	Placenta	Placenta
18	chr19:18684600-18689000	Strong transcription	NHLF	lung
19	chr19:18684600-18689000	Strong transcription	Osteobl	bone
20	chr19:18684600-18689200	Strong transcription	Fetal Intestine Small	intestine
21	chr19:18684600-18689200	Strong transcription	Lung	lung
22	chr19:18684600-18689200	Strong transcription	Stomach Smooth Muscle	stomach
23	chr19:18684600-18689400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:18684600-18689400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:18684600-18689400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:18684600-18689400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:18684600-18689600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:18684600-18689600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr19:18684600-18689800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:18684600-18689800	Strong transcription	Fetal Thymus	thymus
31	chr19:18684600-18690000	Strong transcription	Adipose Nuclei	Adipose
32	chr19:18684600-18690200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr19:18684600-18690200	Strong transcription	Fetal Muscle Leg	muscle
34	chr19:18684600-18698800	Weak transcription	Right Atrium	heart
35	chr19:18684800-18689000	Strong transcription	HMEC	breast
36	chr19:18684800-18689600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr19:18685000-18689400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr19:18685600-18689400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr19:18686000-18689600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:18686200-18689400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:18686200-18690000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:18686200-18698600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr19:18686800-18698400	Weak transcription	Colonic Mucosa	Colon
44	chr19:18686800-18699600	Weak transcription	Small Intestine	intestine
45	chr19:18687000-18691200	Weak transcription	HepG2	liver
46	chr19:18687000-18698600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr19:18687200-18689400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:18687200-18690400	Weak transcription	Stomach Mucosa	stomach
49	chr19:18687200-18693200	Weak transcription	K562	blood
50	chr19:18687200-18693200	Weak transcription	NHDF-Ad	bronchial

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