Variant report

Variant	rs72816718
Chromosome Location	chr10:91228732-91228733
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91219240..91223064-chr10:91225157..91229042,4	MCF-7	breast:
2	chr10:91227284..91229869-chr10:91241351..91244154,2	K562	blood:

Variant related genes	Relation type
ENSG00000234452	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12414643	1.00[AFR][1000 genomes]
rs12573820	1.00[AFR][1000 genomes]
rs17122257	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17122305	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3740030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56034228	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56086829	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56272844	0.83[EUR][1000 genomes]
rs56280029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56306937	1.00[AFR][1000 genomes]
rs56310228	1.00[AFR][1000 genomes]
rs56398433	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56908797	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56962658	0.84[EUR][1000 genomes]
rs57304744	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58982954	0.83[EUR][1000 genomes]
rs72816713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816720	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816722	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72816723	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72816726	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72816729	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72816736	0.84[EUR][1000 genomes]
rs72816749	1.00[AFR][1000 genomes]
rs72816756	1.00[AFR][1000 genomes]
rs72816757	1.00[AFR][1000 genomes]
rs72816764	1.00[AFR][1000 genomes]
rs72816768	1.00[AFR][1000 genomes]
rs72818735	1.00[AFR][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	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91224000-91234600	Weak transcription	Right Ventricle	heart
2	chr10:91224200-91230400	Weak transcription	Left Ventricle	heart
3	chr10:91224200-91236000	Weak transcription	Lung	lung
4	chr10:91226200-91231600	Enhancers	Fetal Lung	lung
5	chr10:91226800-91229200	Weak transcription	NHDF-Ad	bronchial
6	chr10:91226800-91229400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:91226800-91237800	Weak transcription	Stomach Mucosa	stomach
8	chr10:91227000-91228800	Weak transcription	HUVEC	blood vessel
9	chr10:91227000-91229400	Weak transcription	HSMM	muscle
10	chr10:91227000-91229400	Weak transcription	NHLF	lung
11	chr10:91227000-91230200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:91227000-91230800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:91227000-91234600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:91227000-91235200	Weak transcription	NH-A	brain
15	chr10:91227000-91237800	Weak transcription	Osteobl	bone
16	chr10:91227200-91228800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:91227200-91229000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr10:91227200-91229000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:91227200-91229200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr10:91227200-91229200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:91227600-91229000	Weak transcription	NHEK	skin
22	chr10:91228200-91230000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:91228200-91230600	Enhancers	Hela-S3	cervix
24	chr10:91228400-91228800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr10:91228400-91228800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr10:91228400-91228800	Weak transcription	HMEC	breast
27	chr10:91228400-91229400	Weak transcription	Fetal Heart	heart
28	chr10:91228400-91229800	Weak transcription	Pancreas	Pancrea
29	chr10:91228400-91230000	Weak transcription	Right Atrium	heart
30	chr10:91228400-91235600	Enhancers	Liver	Liver
31	chr10:91228600-91229000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr10:91228600-91230200	Weak transcription	HepG2	liver

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