Variant report

Variant	rs12532282
Chromosome Location	chr7:41229450-41229451
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	chr7:41228185..41230237-chr7:41263840..41265939,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11768019	0.82[ASN][1000 genomes]
rs11768122	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12701868	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13225532	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13311231	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs255012	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs255013	0.82[ASN][1000 genomes]
rs255014	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs255015	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs255016	0.82[ASN][1000 genomes]
rs255017	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs29530	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs29532	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs29537	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs29539	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6951425	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][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	nsv887989	chr7:41125447-41337044	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1028983	chr7:41165668-41635954	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv534465	chr7:41224437-41443498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	3 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	chr7:41215400-41230400	Weak transcription	Pancreas	Pancrea
2	chr7:41225400-41231000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:41226000-41231000	Enhancers	HUVEC	blood vessel
4	chr7:41226400-41230400	Enhancers	Placenta	Placenta
5	chr7:41226400-41230600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:41226400-41230800	Enhancers	HMEC	breast
7	chr7:41226400-41231000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:41226400-41231000	Enhancers	NHEK	skin
9	chr7:41226800-41230600	Enhancers	NHLF	lung
10	chr7:41226800-41230800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:41226800-41230800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:41226800-41231000	Enhancers	NHDF-Ad	bronchial
13	chr7:41227000-41230200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:41227600-41230600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:41227800-41230000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:41227800-41231000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:41228000-41230000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:41228400-41230400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:41228400-41230400	Enhancers	Hela-S3	cervix
20	chr7:41228400-41230600	Enhancers	Osteobl	bone
21	chr7:41228600-41229600	Weak transcription	Fetal Kidney	kidney
22	chr7:41229000-41229600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:41229000-41229600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr7:41229000-41229600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr7:41229000-41229800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:41229000-41230800	Enhancers	HSMMtube	muscle
27	chr7:41229200-41229600	Flanking Active TSS	HSMM	muscle
28	chr7:41229200-41229600	Flanking Active TSS	NH-A	brain
29	chr7:41229200-41229800	Enhancers	Aorta	Aorta
30	chr7:41229400-41229600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:41229400-41229800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:41229400-41229800	Enhancers	Esophagus	oesophagus
33	chr7:41229400-41230000	Enhancers	A549	lung
34	chr7:41229400-41230600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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