Variant report

Variant	rs56099248
Chromosome Location	chr3:69857773-69857774
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:69851811..69854439-chr3:69855052..69858049,3	K562	blood:
2	chr3:69845234..69848226-chr3:69856309..69859149,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1367370	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1430604	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1549745	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1549746	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1897159	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2014255	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2163326	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55735918	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55738162	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55808455	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55890624	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55946371	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56007401	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56155813	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56764448	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56927902	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57317066	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57634646	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57788691	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57829272	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58711181	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59487570	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59846970	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60438183	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61148813	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62250980	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62250981	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62250982	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251009	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62251019	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62251025	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251026	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251027	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251029	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251030	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62251031	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62251032	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62251033	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62251040	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62252174	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62252182	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62252218	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62252219	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62252226	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62252228	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62252229	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62252230	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62252232	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62252233	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62252234	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62252237	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62252238	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62252239	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62252240	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62253174	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62253176	0.88[EUR][1000 genomes]
rs62253177	0.92[EUR][1000 genomes]
rs62253178	0.88[EUR][1000 genomes]
rs62253179	0.88[EUR][1000 genomes]
rs62253180	0.88[EUR][1000 genomes]
rs62253181	0.88[EUR][1000 genomes]
rs62253182	0.85[EUR][1000 genomes]
rs62253183	0.87[EUR][1000 genomes]
rs62253185	0.87[EUR][1000 genomes]
rs6800508	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6802804	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6805306	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7611020	0.81[ASN][1000 genomes]
rs7623486	0.90[EUR][1000 genomes]
rs7645126	0.81[ASN][1000 genomes]
rs7647742	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9867045	0.90[EUR][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	esv3507784	chr3:69802539-69959607	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3507785	chr3:69802539-69959607	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1009045	chr3:69821621-69875782	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv963517	chr3:69851683-69877360	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69843400-69859800	Weak transcription	Left Ventricle	heart
2	chr3:69847400-69860600	Weak transcription	Aorta	Aorta
3	chr3:69848800-69858600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:69849800-69869000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:69852800-69857800	Weak transcription	Lung	lung
6	chr3:69853400-69860600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr3:69854200-69858800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:69855600-69858200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:69855600-69858200	Enhancers	Fetal Heart	heart
10	chr3:69856200-69858600	Enhancers	Ovary	ovary
11	chr3:69856400-69858000	Enhancers	HUVEC	blood vessel
12	chr3:69856600-69857800	Weak transcription	Adipose Nuclei	Adipose
13	chr3:69856600-69857800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:69856600-69861000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:69856800-69859800	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:69856800-69860600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:69857000-69857800	Weak transcription	Fetal Lung	lung
18	chr3:69857000-69858000	Weak transcription	NHLF	lung
19	chr3:69857000-69858400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:69857000-69860400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:69857000-69860600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:69857600-69857800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:69857600-69858000	Enhancers	Right Atrium	heart
24	chr3:69857600-69858000	Enhancers	Right Ventricle	heart
25	chr3:69857600-69858000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr3:69857600-69858200	Enhancers	Psoas Muscle	Psoas
27	chr3:69857600-69858200	Enhancers	K562	blood
28	chr3:69857600-69858800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:69857600-69862600	Enhancers	Colon Smooth Muscle	Colon

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