Variant report

Variant	rs12708135
Chromosome Location	chr8:52437662-52437663
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10097136	0.83[ASN][1000 genomes]
rs10109203	0.87[ASN][1000 genomes]
rs10635094	0.81[ASN][1000 genomes]
rs10958273	0.85[ASN][1000 genomes]
rs2915453	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3097708	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35889669	0.81[ASN][1000 genomes]
rs4598242	0.81[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52428000-52437800	Weak transcription	Fetal Kidney	kidney
2	chr8:52433400-52437800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:52433400-52438200	Weak transcription	Left Ventricle	heart
4	chr8:52433400-52443000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:52433600-52441000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:52433800-52438400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:52434400-52438200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:52436600-52437800	Enhancers	NHDF-Ad	bronchial
9	chr8:52436800-52438200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:52436800-52438800	Enhancers	NH-A	brain
11	chr8:52437000-52438600	Enhancers	Fetal Brain Female	brain
12	chr8:52437000-52439200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:52437400-52437800	Enhancers	Brain Angular Gyrus	brain
14	chr8:52437400-52438000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:52437400-52438200	Enhancers	Adipose Nuclei	Adipose
16	chr8:52437400-52438400	Enhancers	GM12878-XiMat	blood
17	chr8:52437400-52438600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:52437400-52438800	Enhancers	Primary B cells from peripheral blood	blood
19	chr8:52437400-52438800	Enhancers	Fetal Lung	lung
20	chr8:52437600-52437800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:52437600-52438800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:52437600-52438800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:52437600-52438800	Active TSS	Aorta	Aorta
24	chr8:52437600-52438800	Enhancers	Brain Germinal Matrix	brain

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