Variant report

Variant	rs10926563
Chromosome Location	chr1:241913224-241913225
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241802864..241803568-chr1:241913223..241913773,2	MCF-7	breast:
2	chr1:241801200..241805205-chr1:241910998..241914529,7	MCF-7	breast:
3	chr1:241913196..241915011-chr1:241920216..241922904,2	MCF-7	breast:
4	chr1:241799844..241805446-chr1:241909864..241915090,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054277	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10737867	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10737868	0.95[ASN][1000 genomes]
rs10737869	0.94[ASN][1000 genomes]
rs10754735	0.81[ASN][1000 genomes]
rs10802988	0.80[ASN][1000 genomes]
rs10802989	0.80[ASN][1000 genomes]
rs10802990	0.80[ASN][1000 genomes]
rs10926561	0.82[ASN][1000 genomes]
rs10926564	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10926569	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11809239	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12081277	0.82[ASN][1000 genomes]
rs3922506	0.82[ASN][1000 genomes]
rs3922507	0.82[ASN][1000 genomes]
rs4129118	0.93[ASN][1000 genomes]
rs4428871	0.80[ASN][1000 genomes]
rs56396922	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6413961	0.81[ASN][1000 genomes]
rs6429300	0.96[ASN][1000 genomes]
rs6429301	0.82[ASN][1000 genomes]
rs6429304	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6429305	0.94[ASN][1000 genomes]
rs6429313	0.80[ASN][1000 genomes]
rs6666953	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6669036	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6669629	0.96[ASN][1000 genomes]
rs6695661	0.81[ASN][1000 genomes]
rs6695767	0.82[ASN][1000 genomes]
rs6696527	0.94[ASN][1000 genomes]
rs7368200	0.80[ASN][1000 genomes]
rs7411533	0.90[ASN][1000 genomes]
rs7411702	0.82[ASN][1000 genomes]
rs7418198	0.96[ASN][1000 genomes]
rs7418599	0.82[ASN][1000 genomes]
rs7526583	0.88[ASN][1000 genomes]
rs7526586	0.85[ASN][1000 genomes]
rs7530794	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7530797	0.96[ASN][1000 genomes]
rs7551270	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv528015	chr1:241865219-242070731	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1008300	chr1:241886514-242171611	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	esv2762521	chr1:241891040-242074222	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241912400-241913400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:241912400-241913400	Enhancers	Fetal Heart	heart
3	chr1:241912400-241913400	Enhancers	Fetal Muscle Trunk	muscle
4	chr1:241912400-241913400	Enhancers	A549	lung
5	chr1:241912400-241913600	Flanking Active TSS	Hela-S3	cervix
6	chr1:241912400-241913800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:241912400-241913800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:241912600-241913400	Flanking Active TSS	Placenta	Placenta
9	chr1:241912600-241913400	Flanking Active TSS	HSMMtube	muscle
10	chr1:241912600-241913400	Flanking Active TSS	NHEK	skin
11	chr1:241912600-241913600	Weak transcription	Brain Anterior Caudate	brain
12	chr1:241912600-241914000	Enhancers	Brain Angular Gyrus	brain
13	chr1:241912800-241913400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:241912800-241913400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:241912800-241913400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:241912800-241913400	Enhancers	Esophagus	oesophagus
17	chr1:241913000-241913400	Enhancers	Ovary	ovary
18	chr1:241913000-241914600	Weak transcription	Aorta	Aorta
19	chr1:241913200-241913400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:241913200-241913400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:241913200-241913400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:241913200-241913400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:241913200-241913400	Enhancers	Osteobl	bone

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