Variant report

Variant	rs4971728
Chromosome Location	chr2:49452262-49452263
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11682910	0.87[ASN][1000 genomes]
rs11682979	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11683030	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11684334	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11694147	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11694212	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11695504	0.82[ASN][1000 genomes]
rs12465480	0.94[ASN][1000 genomes]
rs12466554	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12469765	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12473646	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12474621	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12477568	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12478416	0.90[ASN][1000 genomes]
rs12615919	0.95[ASN][1000 genomes]
rs13023587	0.87[EUR][1000 genomes]
rs13025387	0.88[ASN][1000 genomes]
rs13030816	0.90[ASN][1000 genomes]
rs1394201	0.86[EUR][1000 genomes]
rs2174278	0.83[EUR][1000 genomes]
rs34882825	0.84[ASN][1000 genomes]
rs35716340	0.88[ASN][1000 genomes]
rs4078370	0.83[ASN][1000 genomes]
rs4330135	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4337506	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4603797	0.81[ASN][1000 genomes]
rs4971701	0.84[ASN][1000 genomes]
rs4971702	0.84[ASN][1000 genomes]
rs4971715	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4971718	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4971729	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6419619	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6545101	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6753537	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7560929	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7575144	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7575146	0.95[ASN][1000 genomes]
rs7578571	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7588963	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7598097	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9712256	0.90[ASN][1000 genomes]
rs972557	0.85[EUR][1000 genomes]
rs9973500	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9973827	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9973828	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49449400-49453600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:49449600-49454400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:49451000-49452800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:49451800-49452400	Enhancers	Colon Smooth Muscle	Colon
5	chr2:49451800-49452600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:49452000-49453200	Weak transcription	Osteobl	bone
7	chr2:49452200-49453000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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