Variant report

Variant	rs7226759
Chromosome Location	chr18:11499659-11499660
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	chr18:11494387..11496981-chr18:11498491..11500808,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1031542	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1122103	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1551458	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1966888	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2298532	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2865814	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4797547	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4797548	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505659	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7226808	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7226952	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8086703	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8097953	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8098169	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs921804	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9303736	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9954648	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458029	chr18:10814334-11662151	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv576480	chr18:10814334-11662151	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1057976	chr18:11251898-11664914	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv543650	chr18:11251898-11664914	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1056541	chr18:11336695-11558542	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv543651	chr18:11336695-11558542	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv458031	chr18:11362587-11557161	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv576482	chr18:11362587-11557161	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv909381	chr18:11431945-11609487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr18:11493800-11502400	Enhancers	HSMM	muscle
2	chr18:11493800-11502600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr18:11493800-11502600	Enhancers	NHDF-Ad	bronchial
4	chr18:11494800-11499800	Weak transcription	NH-A	brain
5	chr18:11494800-11500000	Enhancers	HepG2	liver
6	chr18:11495600-11502000	Enhancers	Hela-S3	cervix
7	chr18:11496200-11501400	Enhancers	Osteobl	bone
8	chr18:11496400-11502800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr18:11496800-11502400	Enhancers	NHLF	lung
10	chr18:11497000-11499800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:11497000-11499800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:11497000-11499800	Weak transcription	NHEK	skin
13	chr18:11497200-11501600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:11497400-11501400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr18:11497600-11502600	Enhancers	HMEC	breast
16	chr18:11498200-11499800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr18:11498400-11501000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr18:11498600-11501600	Enhancers	HUVEC	blood vessel
19	chr18:11498600-11502600	Enhancers	HSMMtube	muscle
20	chr18:11498800-11500200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr18:11499400-11500000	Enhancers	A549	lung
22	chr18:11499400-11500400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr18:11499600-11501200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr18:11499600-11501600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:11499600-11501800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr18:11499600-11501800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:11499600-11502800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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