Variant report

Variant	rs60580631
Chromosome Location	chr8:99009776-99009777
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99009762..99011272-chr8:99018097..99019778,2	MCF-7	breast:
2	chr8:98991788..98993846-chr8:99008923..99010508,2	MCF-7	breast:
3	chr8:99005306..99006937-chr8:99007959..99009953,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10090458	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11994638	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375372	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12674810	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12675146	0.80[EUR][1000 genomes]
rs12675608	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12680911	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1378121	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16892217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896467	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16896468	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16896471	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16896476	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16896503	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896514	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16896518	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896521	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16896531	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896564	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16896600	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1869607	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1961270	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2010014	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2045805	1.00[AFR][1000 genomes]
rs2045807	1.00[AFR][1000 genomes]
rs2061053	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2290473	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2513844	0.81[EUR][1000 genomes]
rs34354078	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35407519	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4734381	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735516	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4735519	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59704264	1.00[AFR][1000 genomes]
rs60346298	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6980810	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6988458	1.00[AFR][1000 genomes]
rs7010226	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7018411	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72677062	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72677068	0.85[EUR][1000 genomes]
rs72677085	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72677098	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72678728	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72678733	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72678734	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72678737	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72678752	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72678755	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72678761	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72678762	1.00[AFR][1000 genomes]
rs7830701	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7843262	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:39 , 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	chr8:98994600-99014200	Weak transcription	Ovary	ovary
5	chr8:99003600-99013200	Weak transcription	Brain Anterior Caudate	brain
6	chr8:99006400-99010000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:99007000-99014200	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:99007400-99014000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:99007400-99014000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:99007800-99010000	Enhancers	NHDF-Ad	bronchial
11	chr8:99008200-99009800	Enhancers	Right Atrium	heart
12	chr8:99008200-99015400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:99008400-99009800	Enhancers	Adipose Nuclei	Adipose
14	chr8:99008400-99010000	Enhancers	Colon Smooth Muscle	Colon
15	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
16	chr8:99008600-99013000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:99008600-99013400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:99008800-99009800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:99008800-99010000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:99008800-99010000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:99008800-99014200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:99008800-99014200	Weak transcription	HSMM	muscle
23	chr8:99008800-99014200	Weak transcription	NH-A	brain
24	chr8:99008800-99014800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr8:99009000-99011600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:99009000-99013200	Weak transcription	Hela-S3	cervix
27	chr8:99009000-99013400	Weak transcription	Brain Angular Gyrus	brain
28	chr8:99009000-99016800	Weak transcription	Placenta	Placenta
29	chr8:99009000-99030000	Weak transcription	Pancreas	Pancrea
30	chr8:99009000-99030200	Weak transcription	Esophagus	oesophagus
31	chr8:99009200-99013600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:99009200-99013800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:99009200-99014000	Weak transcription	Osteobl	bone
34	chr8:99009400-99014000	Weak transcription	NHLF	lung
35	chr8:99009600-99010200	Genic enhancers	Fetal Muscle Leg	muscle
36	chr8:99009600-99011600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:99009600-99011800	Weak transcription	Fetal Stomach	stomach
38	chr8:99009600-99013600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:99009600-99022600	Weak transcription	Rectal Smooth Muscle	rectum

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