Variant report

Variant	rs10109203
Chromosome Location	chr8:52438302-52438303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10097136	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10635094	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10958273	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12708135	0.87[ASN][1000 genomes]
rs2915453	0.81[ASN][1000 genomes]
rs2979119	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3097708	0.81[ASN][1000 genomes]
rs35377291	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35889669	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4598242	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55677072	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9792278	0.82[EUR][1000 genomes];0.91[ASN][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	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active 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	10 gene(s)	inside rSNPs	diseases
2	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases
6	nsv890896	chr8:52428061-52454721	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52433400-52443000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:52433600-52441000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:52433800-52438400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:52436800-52438800	Enhancers	NH-A	brain
5	chr8:52437000-52438600	Enhancers	Fetal Brain Female	brain
6	chr8:52437000-52439200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:52437400-52438400	Enhancers	GM12878-XiMat	blood
8	chr8:52437400-52438600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:52437400-52438800	Enhancers	Primary B cells from peripheral blood	blood
10	chr8:52437400-52438800	Enhancers	Fetal Lung	lung
11	chr8:52437600-52438800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:52437600-52438800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:52437600-52438800	Active TSS	Aorta	Aorta
14	chr8:52437600-52438800	Enhancers	Brain Germinal Matrix	brain
15	chr8:52437800-52438400	Enhancers	Fetal Kidney	kidney
16	chr8:52437800-52438600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:52437800-52438800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:52437800-52438800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr8:52437800-52438800	Flanking Active TSS	NHDF-Ad	bronchial
20	chr8:52438000-52438600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:52438000-52438600	Active TSS	Brain Angular Gyrus	brain
22	chr8:52438000-52438600	Enhancers	Fetal Stomach	stomach
23	chr8:52438000-52440200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:52438200-52438400	Active TSS	Brain Hippocampus Middle	brain
25	chr8:52438200-52438400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr8:52438200-52438600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:52438200-52438600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:52438200-52438600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:52438200-52438600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:52438200-52438600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:52438200-52438600	Active TSS	Brain Cingulate Gyrus	brain
32	chr8:52438200-52438600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr8:52438200-52438600	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr8:52438200-52438600	Enhancers	Left Ventricle	heart
35	chr8:52438200-52438600	Flanking Active TSS	Right Atrium	heart
36	chr8:52438200-52438600	Flanking Active TSS	Osteobl	bone
37	chr8:52438200-52438800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:52438200-52438800	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr8:52438200-52438800	Active TSS	Brain Anterior Caudate	brain
40	chr8:52438200-52438800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:52438200-52438800	Enhancers	Esophagus	oesophagus
42	chr8:52438200-52438800	Enhancers	Fetal Muscle Leg	muscle
43	chr8:52438200-52438800	Enhancers	Ovary	ovary
44	chr8:52438200-52438800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr8:52438200-52439200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:52438200-52439200	Enhancers	Fetal Brain Male	brain

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