Variant report

Variant	rs8106753
Chromosome Location	chr19:40573810-40573811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40570661..40573869-chr19:40576488..40578781,3	K562	blood:
2	chr19:40569017..40571965-chr19:40572849..40575602,2	K562	blood:
3	chr19:40560102..40567049-chr19:40567713..40574804,12	K562	blood:

Variant related genes	Relation type
ENSG00000128000	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs450095	1.00[EUR][1000 genomes]
rs55724336	0.87[EUR][1000 genomes]
rs59307138	0.87[EUR][1000 genomes]
rs60037732	0.87[EUR][1000 genomes]
rs61655884	1.00[EUR][1000 genomes]
rs7245925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7249514	0.87[EUR][1000 genomes]
rs7250763	0.87[EUR][1000 genomes]
rs7255186	0.87[EUR][1000 genomes]
rs73543966	0.87[EUR][1000 genomes]
rs73545987	0.87[EUR][1000 genomes]
rs73545999	0.87[EUR][1000 genomes]
rs73547626	0.87[EUR][1000 genomes]
rs73547631	0.87[EUR][1000 genomes]
rs73547672	0.87[EUR][1000 genomes]
rs73549807	0.87[EUR][1000 genomes]
rs73549809	0.87[EUR][1000 genomes]
rs73549848	0.87[EUR][1000 genomes]
rs73551667	1.00[EUR][1000 genomes]
rs73551692	1.00[EUR][1000 genomes]
rs8106043	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40562600-40579200	Weak transcription	Left Ventricle	heart
2	chr19:40562600-40579400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:40566000-40580000	Weak transcription	Fetal Heart	heart
4	chr19:40570600-40579800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr19:40571800-40578600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:40571800-40578800	Weak transcription	Brain Germinal Matrix	brain
7	chr19:40571800-40579200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:40571800-40579600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr19:40572400-40578600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:40572400-40578800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr19:40572400-40578800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr19:40572400-40579600	Weak transcription	Ovary	ovary
13	chr19:40572400-40580000	Weak transcription	Lung	lung
14	chr19:40572400-40580000	Weak transcription	Pancreas	Pancrea
15	chr19:40572800-40579200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:40572800-40579200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr19:40573000-40579200	Weak transcription	Fetal Brain Female	brain
18	chr19:40573000-40579200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:40573000-40579400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr19:40573000-40580000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr19:40573200-40574800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr19:40573400-40574000	Weak transcription	Fetal Stomach	stomach
23	chr19:40573400-40579200	Weak transcription	Fetal Kidney	kidney
24	chr19:40573600-40579000	Weak transcription	HSMM	muscle
25	chr19:40573800-40580000	Weak transcription	Muscle Satellite Cultured Cells	--

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