Variant report

Variant	rs11719345
Chromosome Location	chr3:21789193-21789194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11711489	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11715647	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62236194	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62236195	0.89[ASN][1000 genomes]
rs7634827	0.88[JPT][hapmap];0.80[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1007048	chr3:21666807-21865229	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv536516	chr3:21666807-21865229	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1007665	chr3:21781727-21809266	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1011725	chr3:21786893-21804428	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2751992	chr3:21786893-22212357	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv948555	chr3:21786893-22212357	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11719345	KAT2B	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21778200-21791400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:21780600-21791400	Weak transcription	Fetal Heart	heart
3	chr3:21784200-21790600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr3:21786400-21789600	Enhancers	Fetal Kidney	kidney
5	chr3:21786400-21789800	Enhancers	NH-A	brain
6	chr3:21786400-21793600	Active TSS	Aorta	Aorta
7	chr3:21786600-21790000	Enhancers	Fetal Lung	lung
8	chr3:21787200-21791400	Weak transcription	HSMM	muscle
9	chr3:21787400-21789200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:21787800-21789400	Enhancers	Fetal Stomach	stomach
11	chr3:21787800-21789600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:21788000-21789200	Weak transcription	Brain Germinal Matrix	brain
13	chr3:21788000-21791200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr3:21788200-21789400	Enhancers	HSMMtube	muscle
15	chr3:21788200-21789400	Flanking Active TSS	NHDF-Ad	bronchial
16	chr3:21788200-21790200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:21788200-21791800	Active TSS	Adipose Nuclei	Adipose
18	chr3:21788400-21790400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr3:21788600-21790000	Enhancers	Right Ventricle	heart
20	chr3:21788800-21789200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:21788800-21789200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
22	chr3:21788800-21789200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:21788800-21789200	Flanking Active TSS	Fetal Brain Female	brain
24	chr3:21788800-21789200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr3:21788800-21789600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:21788800-21789600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:21788800-21790000	Enhancers	Fetal Muscle Leg	muscle
28	chr3:21788800-21790000	Enhancers	HMEC	breast
29	chr3:21788800-21790400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr3:21788800-21790400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:21788800-21790400	Enhancers	Left Ventricle	heart
32	chr3:21788800-21791800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr3:21788800-21793200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr3:21789000-21789200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr3:21789000-21789200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:21789000-21789200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:21789000-21789200	Flanking Active TSS	Fetal Brain Male	brain
38	chr3:21789000-21789200	Flanking Active TSS	Right Atrium	heart
39	chr3:21789000-21789200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr3:21789000-21789200	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr3:21789000-21789600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:21789000-21789800	Active TSS	Brain Anterior Caudate	brain
43	chr3:21789000-21790400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:21789000-21791600	Active TSS	Psoas Muscle	Psoas
45	chr3:21789000-21791800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain

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