Variant report

Variant	rs4449449
Chromosome Location	chr4:45603670-45603671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10009499	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10016628	0.84[AMR][1000 genomes]
rs1350198	0.84[AMR][1000 genomes]
rs1378981	0.84[AMR][1000 genomes]
rs1456491	0.91[EUR][1000 genomes]
rs1456492	0.91[EUR][1000 genomes]
rs1456497	0.84[AMR][1000 genomes]
rs1456513	0.99[EUR][1000 genomes]
rs1456515	0.99[EUR][1000 genomes]
rs1547505	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1598655	0.97[EUR][1000 genomes]
rs1672627	0.99[EUR][1000 genomes]
rs1672628	0.99[EUR][1000 genomes]
rs1672630	0.99[EUR][1000 genomes]
rs1672631	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1672632	0.99[EUR][1000 genomes]
rs1684750	0.99[EUR][1000 genomes]
rs1684751	0.99[EUR][1000 genomes]
rs1684752	0.97[EUR][1000 genomes]
rs1684790	0.99[EUR][1000 genomes]
rs1684791	0.99[EUR][1000 genomes]
rs1902505	0.84[AMR][1000 genomes]
rs1993435	0.84[AMR][1000 genomes]
rs2631378	0.99[EUR][1000 genomes]
rs4694809	0.85[EUR][1000 genomes]
rs4694810	0.84[AMR][1000 genomes]
rs6846586	1.00[EUR][1000 genomes]
rs7661353	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7670730	0.85[EUR][1000 genomes]
rs7676898	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7683028	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs840207	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594104	chr4:45105210-45665828	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv461353	chr4:45470453-46227847	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv470030	chr4:45470453-46227847	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv594109	chr4:45470453-46227847	Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv461355	chr4:45483121-45982196	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv594111	chr4:45483121-45982196	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv594112	chr4:45503395-45756683	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv997267	chr4:45524521-45703126	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1010337	chr4:45570796-45626136	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45602600-45603800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:45602600-45603800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:45603000-45603800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:45603400-45604400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:45603600-45604200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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