Variant report

Variant	rs16916187
Chromosome Location	chr8:52308788-52308789
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10093611	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1036112	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10435583	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10958264	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985241	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990007	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990397	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992240	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916177	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916207	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2010051	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58144747	0.80[ASN][1000 genomes]
rs6983511	0.85[ASN][1000 genomes]
rs6997365	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002273	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7010110	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012913	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018307	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs719162	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9298446	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52302800-52310800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:52303000-52310800	Weak transcription	Fetal Stomach	stomach
3	chr8:52305800-52309800	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:52307000-52308800	Enhancers	Osteobl	bone
5	chr8:52307000-52309000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:52307000-52309400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:52307000-52309600	Enhancers	NH-A	brain
8	chr8:52307000-52312400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:52307200-52308800	Enhancers	Left Ventricle	heart
10	chr8:52307200-52309000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:52307200-52309000	Enhancers	Right Atrium	heart
12	chr8:52307400-52308800	Enhancers	NHLF	lung
13	chr8:52307400-52309000	Enhancers	GM12878-XiMat	blood
14	chr8:52307400-52310000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:52307600-52310600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:52307600-52310800	Weak transcription	Spleen	Spleen
17	chr8:52307600-52320600	Weak transcription	Right Ventricle	heart
18	chr8:52308000-52310800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:52308200-52309000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:52308200-52309000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:52308200-52309000	Flanking Active TSS	NHDF-Ad	bronchial
22	chr8:52308400-52308800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:52308400-52308800	Enhancers	A549	lung
24	chr8:52308400-52309000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:52308400-52309000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:52308400-52309000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:52308400-52309000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:52308400-52309200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:52308600-52308800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:52308600-52317800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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