Variant report

Variant	rs11989230
Chromosome Location	chr8:10548322-10548323
allele	A/C
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:9)

rs_ID	r²[population]
rs11986744	1.00[AMR][1000 genomes]
rs11990229	1.00[AMR][1000 genomes]
rs11992237	1.00[AMR][1000 genomes]
rs11997269	1.00[AMR][1000 genomes]
rs17152495	1.00[AMR][1000 genomes]
rs35530857	1.00[AMR][1000 genomes]
rs6980549	1.00[AMR][1000 genomes]
rs7001530	1.00[AMR][1000 genomes]
rs934325	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv515898	chr8:10530037-10557407	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv465463	chr8:10535826-10567630	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv610272	chr8:10535826-10567630	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv1028266	chr8:10537081-10586112	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv465464	chr8:10537940-10565263	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	nsv610273	chr8:10537940-10565263	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10546800-10549600	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:10547200-10551000	Enhancers	Spleen	Spleen
3	chr8:10547400-10549000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:10547400-10551600	Enhancers	Esophagus	oesophagus
5	chr8:10547600-10548600	Weak transcription	K562	blood
6	chr8:10547800-10549000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:10547800-10549000	Enhancers	Placenta	Placenta
8	chr8:10547800-10549200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:10547800-10549800	Enhancers	HMEC	breast
10	chr8:10548000-10548400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:10548000-10548600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:10548000-10548800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:10548000-10549000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:10548000-10549000	Flanking Active TSS	NHEK	skin
15	chr8:10548000-10549200	Enhancers	HSMMtube	muscle
16	chr8:10548000-10549400	Enhancers	A549	lung
17	chr8:10548000-10549600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:10548200-10548400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:10548200-10548400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr8:10548200-10548400	Enhancers	Gastric	stomach
21	chr8:10548200-10548800	Enhancers	Fetal Muscle Leg	muscle
22	chr8:10548200-10549000	Enhancers	Right Ventricle	heart
23	chr8:10548200-10549200	Enhancers	HSMM	muscle
24	chr8:10548200-10549400	Enhancers	Duodenum Mucosa	Duodenum
25	chr8:10548200-10549400	Flanking Active TSS	Hela-S3	cervix
26	chr8:10548200-10549400	Enhancers	NH-A	brain
27	chr8:10548200-10550000	Enhancers	Liver	Liver

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