Variant report

Variant	rs1427448
Chromosome Location	chr2:49476650-49476651
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10186243	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10189252	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10190246	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199834	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11691817	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12615060	0.91[ASN][1000 genomes]
rs12621511	0.91[ASN][1000 genomes]
rs12713044	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987821	0.90[ASN][1000 genomes]
rs12992153	0.96[ASN][1000 genomes]
rs12994278	0.92[ASN][1000 genomes]
rs12994729	0.91[ASN][1000 genomes]
rs12999467	0.94[ASN][1000 genomes]
rs13000772	0.92[ASN][1000 genomes]
rs13006053	0.92[ASN][1000 genomes]
rs13006072	0.94[ASN][1000 genomes]
rs13009122	0.96[ASN][1000 genomes]
rs13012136	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13015519	0.92[ASN][1000 genomes]
rs13016541	0.92[ASN][1000 genomes]
rs13020477	0.94[ASN][1000 genomes]
rs13020652	0.94[ASN][1000 genomes]
rs13032160	0.94[ASN][1000 genomes]
rs13033709	0.83[ASN][1000 genomes]
rs1427447	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469359	0.92[ASN][1000 genomes]
rs1469360	0.92[ASN][1000 genomes]
rs1834783	0.91[ASN][1000 genomes]
rs2162527	0.94[ASN][1000 genomes]
rs2195089	0.92[ASN][1000 genomes]
rs2195090	0.94[ASN][1000 genomes]
rs2350021	0.86[ASN][1000 genomes]
rs2350022	0.92[ASN][1000 genomes]
rs2882305	0.86[ASN][1000 genomes]
rs4971573	0.81[ASN][1000 genomes]
rs4971742	0.85[ASN][1000 genomes]
rs4971751	0.96[ASN][1000 genomes]
rs4971753	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4995782	0.92[ASN][1000 genomes]
rs4995783	0.92[ASN][1000 genomes]
rs6708953	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008909	chr2:49281630-49571619	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv993555	chr2:49299168-49781707	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv869321	chr2:49316909-49587401	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv999413	chr2:49324726-49477527	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv874011	chr2:49358655-49489333	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv874012	chr2:49359676-49489333	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1005336	chr2:49422587-49737964	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv535686	chr2:49422587-49737964	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1006675	chr2:49422587-49737965	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv535687	chr2:49422587-49737965	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv998367	chr2:49441886-49795482	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1002948	chr2:49447212-49522898	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1427448	FSHR	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49470600-49488200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:49475200-49479800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:49475400-49477000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:49475400-49477000	Enhancers	Osteobl	bone
5	chr2:49475600-49477000	Enhancers	NHDF-Ad	bronchial
6	chr2:49475800-49478200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:49476200-49476800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:49476200-49478800	Weak transcription	NH-A	brain
9	chr2:49476200-49479800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:49476400-49477400	Weak transcription	NHLF	lung
11	chr2:49476400-49477600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:49476400-49478000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:49476600-49477600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:49476600-49477600	Weak transcription	HSMM	muscle
15	chr2:49476600-49479200	Weak transcription	HSMMtube	muscle

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