Variant report

Variant	rs11881753
Chromosome Location	chr19:44859879-44859880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44859033..44861169-chr2:133104533..133106354,2	K562	blood:

Variant related genes	Relation type
ENSG00000272769	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10401758	0.89[EUR][1000 genomes]
rs10405091	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10405268	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10409423	0.89[EUR][1000 genomes]
rs10409643	0.89[EUR][1000 genomes]
rs10410532	0.89[EUR][1000 genomes]
rs10411499	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10415196	0.89[EUR][1000 genomes]
rs10416493	0.89[EUR][1000 genomes]
rs10418460	1.00[EUR][1000 genomes]
rs12104331	1.00[EUR][1000 genomes]
rs12104332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1584	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16978910	1.00[EUR][1000 genomes]
rs16978912	1.00[EUR][1000 genomes]
rs16978921	1.00[EUR][1000 genomes]
rs2232803	1.00[EUR][1000 genomes]
rs28485815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28671410	0.89[EUR][1000 genomes]
rs57176078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57706678	1.00[EUR][1000 genomes]
rs58216091	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7253796	1.00[EUR][1000 genomes]
rs7255445	0.89[EUR][1000 genomes]
rs7257833	0.89[EUR][1000 genomes]
rs73567997	0.89[EUR][1000 genomes]
rs73934602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73937513	1.00[EUR][1000 genomes]
rs9749373	0.89[EUR][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	nsv912110	chr19:44840789-44902190	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv963093	chr19:44850276-44876742	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv912111	chr19:44852134-44902190	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv579855	chr19:44852134-44930348	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv515911	chr19:44852134-44935019	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv579856	chr19:44855757-44899820	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv912113	chr19:44858776-44928885	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44840800-44860000	Weak transcription	NHDF-Ad	bronchial
2	chr19:44845000-44860000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:44845200-44860000	Weak transcription	HSMM	muscle
4	chr19:44850400-44860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:44850400-44860200	Weak transcription	Left Ventricle	heart
6	chr19:44851400-44860400	Weak transcription	Aorta	Aorta
7	chr19:44854400-44860000	Weak transcription	Ovary	ovary
8	chr19:44854800-44860000	Weak transcription	Pancreas	Pancrea
9	chr19:44855400-44860000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:44855600-44860000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:44855800-44860000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:44859200-44860200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:44859600-44860000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:44859600-44860200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:44859600-44860200	Flanking Active TSS	NHEK	skin
16	chr19:44859600-44861000	Active TSS	Duodenum Mucosa	Duodenum
17	chr19:44859600-44862000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:44859600-44862000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr19:44859600-44862000	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr19:44859800-44860000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr19:44859800-44860000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:44859800-44860000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr19:44859800-44860000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr19:44859800-44860000	Enhancers	Brain Anterior Caudate	brain
25	chr19:44859800-44860000	Enhancers	Brain Substantia Nigra	brain
26	chr19:44859800-44860000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr19:44859800-44860000	Enhancers	Fetal Kidney	kidney
28	chr19:44859800-44860000	Enhancers	HepG2	liver
29	chr19:44859800-44860000	Enhancers	HSMMtube	muscle
30	chr19:44859800-44860000	Enhancers	NH-A	brain
31	chr19:44859800-44860000	Enhancers	Osteobl	bone
32	chr19:44859800-44860200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:44859800-44860200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:44859800-44860200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:44859800-44860200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:44859800-44860200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:44859800-44860200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr19:44859800-44860200	Enhancers	Colon Smooth Muscle	Colon
39	chr19:44859800-44860200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr19:44859800-44860200	Enhancers	Fetal Heart	heart
41	chr19:44859800-44860200	Enhancers	Fetal Intestine Large	intestine
42	chr19:44859800-44860200	Enhancers	Fetal Stomach	stomach
43	chr19:44859800-44860200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr19:44859800-44860200	Flanking Active TSS	HMEC	breast
45	chr19:44859800-44860400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr19:44859800-44860400	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr19:44859800-44860400	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr19:44859800-44860400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr19:44859800-44860600	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr19:44859800-44860800	Flanking Active TSS	Liver	Liver

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