Variant report

Variant	rs10044822
Chromosome Location	chr5:15011529-15011530
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	chr5:14663778..14665710-chr5:15008734..15011758,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261360	Chromatin interaction
ENSG00000154124	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10044904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10044907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10044908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10067400	0.88[ASN][1000 genomes]
rs10513194	0.90[ASN][1000 genomes]
rs10513195	1.00[EUR][1000 genomes]
rs11744215	0.90[ASN][1000 genomes]
rs16903773	0.94[ASN][1000 genomes]
rs16903778	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57219003	0.89[ASN][1000 genomes]
rs58317516	1.00[EUR][1000 genomes]
rs62356077	0.87[ASN][1000 genomes]
rs6859541	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6864877	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6867275	0.94[ASN][1000 genomes]
rs6877954	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6878138	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6878288	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6878430	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73053946	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73053947	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73053951	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73053957	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7341022	0.98[ASN][1000 genomes]
rs7341067	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7341168	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9312876	0.90[ASN][1000 genomes]
rs9686327	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv432717	chr5:14887400-15126500	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1017579	chr5:14888997-15194335	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv461982	chr5:14943456-15044842	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv597262	chr5:14943456-15044842	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv470991	chr5:14949696-15022112	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv524142	chr5:14986700-15018537	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15009400-15013800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:15009400-15015200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:15009400-15020800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:15009800-15011600	Enhancers	Hela-S3	cervix
5	chr5:15009800-15013600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:15009800-15013600	Weak transcription	NHDF-Ad	bronchial
7	chr5:15009800-15013800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:15009800-15014800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:15009800-15015000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:15009800-15021000	Weak transcription	Aorta	Aorta
11	chr5:15010000-15011600	Enhancers	HepG2	liver
12	chr5:15010000-15013600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:15010000-15013800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:15010000-15013800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:15010000-15013800	Weak transcription	Fetal Heart	heart
16	chr5:15010000-15013800	Weak transcription	NH-A	brain
17	chr5:15010000-15014200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:15010000-15014200	Weak transcription	HSMMtube	muscle
19	chr5:15010000-15014800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:15010000-15014800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:15010000-15014800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:15010000-15014800	Weak transcription	HSMM	muscle
23	chr5:15010000-15014800	Weak transcription	NHEK	skin
24	chr5:15010000-15015000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:15010400-15012000	Enhancers	A549	lung
26	chr5:15010400-15013800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:15010400-15015000	Weak transcription	HMEC	breast
28	chr5:15010600-15013600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:15010600-15013800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:15011200-15013600	Weak transcription	Osteobl	bone
31	chr5:15011200-15013800	Weak transcription	Liver	Liver
32	chr5:15011400-15013600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:15011400-15013800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:15011400-15013800	Weak transcription	Stomach Mucosa	stomach

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