Variant report

Variant	rs10040280
Chromosome Location	chr5:57706564-57706565
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	chr5:57704818..57707042-chr5:57711900..57714424,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10035488	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10042036	0.82[EUR][1000 genomes]
rs10070290	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10471450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10472048	0.80[EUR][1000 genomes]
rs10472049	0.80[EUR][1000 genomes]
rs10472054	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10472060	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10472061	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12188948	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13328216	0.83[EUR][1000 genomes]
rs1508904	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17765151	0.83[EUR][1000 genomes]
rs17765997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1848512	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2021394	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2021395	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2047751	0.95[EUR][1000 genomes]
rs28459538	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28475041	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3846534	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56242962	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59497655	0.82[EUR][1000 genomes]
rs59595416	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60482268	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6450473	0.82[EUR][1000 genomes]
rs72758116	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72758120	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72758121	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7717376	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9292159	0.82[EUR][1000 genomes]
rs9292160	0.94[EUR][1000 genomes]
rs984147	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508358	chr5:57673230-57709684	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1028460	chr5:57691003-57719435	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57699600-57708200	Enhancers	HMEC	breast
2	chr5:57700000-57708000	Enhancers	NHEK	skin
3	chr5:57702400-57706600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:57703600-57706800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:57703600-57706800	Weak transcription	Hela-S3	cervix
6	chr5:57703600-57706800	Weak transcription	HSMMtube	muscle
7	chr5:57703800-57706800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:57703800-57708200	Enhancers	A549	lung
9	chr5:57704600-57707000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:57704600-57707600	Weak transcription	Esophagus	oesophagus
11	chr5:57705000-57706600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr5:57705400-57707400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:57705400-57708200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:57705800-57706600	Enhancers	Fetal Lung	lung
15	chr5:57705800-57707000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:57705800-57707200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr5:57705800-57707200	Enhancers	HUVEC	blood vessel
18	chr5:57705800-57707400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:57705800-57708000	Enhancers	HSMM	muscle
20	chr5:57705800-57708200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:57706000-57706600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:57706000-57707200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:57706000-57707600	Enhancers	NH-A	brain
24	chr5:57706000-57707800	Enhancers	Osteobl	bone
25	chr5:57706000-57708200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:57706000-57708400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:57706000-57710000	Weak transcription	Fetal Brain Male	brain
28	chr5:57706200-57706600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr5:57706200-57707000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:57706200-57707000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:57706400-57709000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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