Variant report

Variant	rs1248424
Chromosome Location	chr10:29282337-29282338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10763679	0.93[ASN][1000 genomes]
rs1248420	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1248423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539248	0.83[EUR][1000 genomes]
rs1773879	0.82[EUR][1000 genomes]
rs2484505	0.91[CEU][hapmap];0.85[YRI][hapmap]
rs2484510	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2783585	0.85[EUR][1000 genomes]
rs2783592	0.86[EUR][1000 genomes]
rs2795100	0.84[EUR][1000 genomes]
rs61838449	0.86[EUR][1000 genomes]
rs788051	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs805501	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041555	chr10:28419399-29304934	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1037863	chr10:28419399-29378871	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv540521	chr10:28419399-29378871	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv1046678	chr10:29242479-29378871	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv540524	chr10:29242479-29378871	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:29273800-29290800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:29274600-29283200	Weak transcription	Aorta	Aorta
3	chr10:29281000-29282800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr10:29281000-29285000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr10:29281200-29282800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:29281200-29285800	Weak transcription	NH-A	brain
7	chr10:29281200-29286200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr10:29281400-29282800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:29281400-29283000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:29281400-29286200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:29281400-29286200	Weak transcription	HSMMtube	muscle
12	chr10:29281600-29282800	Weak transcription	Osteobl	bone
13	chr10:29281600-29283000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:29281600-29283200	Weak transcription	Placenta	Placenta
15	chr10:29281600-29285000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr10:29282200-29282400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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