Variant report

Variant	rs60324498
Chromosome Location	chr8:99000582-99000583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10098159	1.00[ASN][1000 genomes]
rs10955141	1.00[ASN][1000 genomes]
rs10955142	1.00[ASN][1000 genomes]
rs10955145	0.92[ASN][1000 genomes]
rs10955146	1.00[ASN][1000 genomes]
rs10955147	0.86[ASN][1000 genomes]
rs11559201	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11559202	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776602	1.00[ASN][1000 genomes]
rs11777189	1.00[ASN][1000 genomes]
rs11784449	1.00[ASN][1000 genomes]
rs11785807	1.00[ASN][1000 genomes]
rs11990341	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11991161	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996042	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997426	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544193	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549802	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549967	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550104	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248865	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254615	1.00[ASN][1000 genomes]
rs13254737	1.00[ASN][1000 genomes]
rs13255477	1.00[ASN][1000 genomes]
rs13265127	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268951	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274382	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279197	1.00[ASN][1000 genomes]
rs13439743	1.00[ASN][1000 genomes]
rs16896517	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279120	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290467	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290468	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290469	1.00[ASN][1000 genomes]
rs3088121	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34139241	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34276726	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34899856	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35417638	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758031	0.97[ASN][1000 genomes]
rs55779959	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56137923	1.00[ASN][1000 genomes]
rs57866232	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68116021	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68131553	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985709	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986891	1.00[ASN][1000 genomes]
rs6987112	1.00[ASN][1000 genomes]
rs7004993	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012838	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016999	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71514975	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678742	0.89[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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv1801513	chr8:98996645-99009024	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	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	chr8:98988000-99011800	Weak transcription	Aorta	Aorta
2	chr8:98992600-99019400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:98994200-99014800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:98994400-99003200	Weak transcription	Brain Substantia Nigra	brain
5	chr8:98994600-99008200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:98994600-99008400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:98994600-99014200	Weak transcription	Ovary	ovary
8	chr8:98995200-99008000	Weak transcription	Fetal Stomach	stomach
9	chr8:98995800-99003400	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:98996400-99006000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:98996600-99006800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:98997000-99001800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:98997000-99002400	Weak transcription	HMEC	breast
14	chr8:98997000-99002400	Weak transcription	NHEK	skin
15	chr8:98997000-99003000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:98997600-99003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:98997600-99003400	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:98997800-99002000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:98997800-99002000	Weak transcription	NH-A	brain
20	chr8:98997800-99002000	Weak transcription	Osteobl	bone
21	chr8:98997800-99003000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:98998200-99001800	Weak transcription	NHDF-Ad	bronchial
23	chr8:98998200-99002000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:98998200-99006600	Weak transcription	NHLF	lung

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