Variant report

Variant	rs3007299
Chromosome Location	chr1:246980557-246980558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10802446	0.91[ASN][1000 genomes]
rs10924844	0.90[ASN][1000 genomes]
rs10924845	0.89[ASN][1000 genomes]
rs10924846	0.86[ASN][1000 genomes]
rs12034047	0.93[ASN][1000 genomes]
rs12038733	0.90[ASN][1000 genomes]
rs12091776	0.96[ASN][1000 genomes]
rs12116769	0.90[ASN][1000 genomes]
rs12127729	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12135558	0.90[ASN][1000 genomes]
rs12724484	0.86[ASN][1000 genomes]
rs12740414	0.96[ASN][1000 genomes]
rs12740434	0.91[ASN][1000 genomes]
rs1936627	0.91[ASN][1000 genomes]
rs1936628	0.91[ASN][1000 genomes]
rs2154135	0.90[ASN][1000 genomes]
rs28626244	0.85[ASN][1000 genomes]
rs3007298	1.00[ASN][1000 genomes]
rs3007300	0.90[ASN][1000 genomes]
rs34464133	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34701109	0.91[ASN][1000 genomes]
rs35122873	0.93[ASN][1000 genomes]
rs35882144	0.89[ASN][1000 genomes]
rs36063237	0.90[ASN][1000 genomes]
rs4994360	0.96[ASN][1000 genomes]
rs6700207	0.91[ASN][1000 genomes]
rs72764674	0.97[ASN][1000 genomes]
rs7418115	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv873422	chr1:246854862-247002638	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246976400-246981000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:246976400-246981000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:246976400-246981000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:246976400-246981200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:246976600-246980800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:246977000-246981000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:246979800-246981000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:246980400-246980800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:246980400-246981200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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