Variant report

Variant	rs7083553
Chromosome Location	chr10:116440131-116440132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs60092663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60410790	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7093923	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7097805	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73371868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73371874	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73371880	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73371882	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73371883	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73371890	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73371894	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116408600-116441400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr10:116424200-116443000	Weak transcription	Esophagus	oesophagus
3	chr10:116425400-116441400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr10:116431600-116444000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr10:116432400-116441600	Weak transcription	Fetal Intestine Small	intestine
6	chr10:116433800-116440200	Weak transcription	Lung	lung
7	chr10:116434000-116440200	Weak transcription	Right Atrium	heart
8	chr10:116434200-116441600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr10:116435000-116444000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr10:116435600-116441400	Weak transcription	Fetal Intestine Large	intestine
11	chr10:116437400-116440200	Weak transcription	Right Ventricle	heart
12	chr10:116438600-116441800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:116438600-116444800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr10:116438800-116441200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr10:116438800-116441600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr10:116438800-116442200	Weak transcription	Liver	Liver
17	chr10:116439000-116440600	Weak transcription	Stomach Mucosa	stomach
18	chr10:116439000-116440600	Weak transcription	HMEC	breast
19	chr10:116439000-116441000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr10:116439000-116441200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:116439000-116441200	Weak transcription	HUVEC	blood vessel
22	chr10:116439000-116441400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:116439000-116441400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr10:116439000-116441600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:116439000-116444000	Weak transcription	NHDF-Ad	bronchial
26	chr10:116439000-116444600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr10:116439200-116440400	Weak transcription	Fetal Muscle Leg	muscle
28	chr10:116439200-116440400	Weak transcription	A549	lung
29	chr10:116439200-116441200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr10:116439200-116441200	Weak transcription	NHEK	skin
31	chr10:116439200-116441400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:116439200-116441400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:116439200-116441600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:116439200-116443400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:116439800-116440800	Enhancers	Adipose Nuclei	Adipose
36	chr10:116439800-116441400	Enhancers	Fetal Heart	heart
37	chr10:116439800-116444000	Enhancers	Fetal Lung	lung
38	chr10:116440000-116440200	Bivalent Enhancer	Brain Hippocampus Middle	brain
39	chr10:116440000-116440200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr10:116440000-116440800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr10:116440000-116441200	Enhancers	Left Ventricle	heart

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