Variant report

Variant	rs4234338
Chromosome Location	chr3:28612595-28612596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:28598873..28601337-chr3:28611667..28614527,2	K562	blood:
2	chr3:28608320..28610630-chr3:28611248..28614239,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11707705	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs11712484	0.86[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11712489	0.89[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap]
rs11720107	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs11918050	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11921692	0.83[CHB][hapmap]
rs11921943	0.84[CHB][hapmap]
rs13075840	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs13082167	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs13087143	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs13087774	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs13088574	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs13090439	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs13095628	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs1457910	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs1585211	0.84[CHB][hapmap]
rs1598846	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs17021402	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs17696459	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs17696783	0.86[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap]
rs2168799	0.84[CHB][hapmap]
rs4133027	0.99[ASN][1000 genomes]
rs4234339	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234340	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234341	0.85[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4356777	0.86[ASN][1000 genomes]
rs4361241	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4368456	0.95[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4452283	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs4478040	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4521182	0.92[ASN][1000 genomes]
rs4522734	0.90[ASN][1000 genomes]
rs4610188	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4618184	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4680760	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4680761	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4680762	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4680913	0.84[CHB][hapmap]
rs6549860	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6549861	0.92[ASN][1000 genomes]
rs6771057	0.84[CHB][hapmap]
rs6771460	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs6789363	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6796390	0.89[ASN][1000 genomes]
rs6800426	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6803692	0.84[CHB][hapmap]
rs7434193	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7619927	0.99[ASN][1000 genomes]
rs7642049	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7643191	0.95[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7651883	0.84[CHB][hapmap]
rs969443	0.86[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap]
rs9815067	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9834829	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv876650	chr3:28427029-28613602	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1015015	chr3:28461972-28728494	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv916364	chr3:28468275-29146280	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv590010	chr3:28469830-28727214	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28607200-28616400	Weak transcription	Aorta	Aorta
2	chr3:28610400-28612800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr3:28611600-28612800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:28612200-28615000	Weak transcription	Brain Germinal Matrix	brain

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