Variant report

Variant	rs2619513
Chromosome Location	chr6:15739843-15739844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15739334..15746702-chr6:16128002..16131195,9	K562	blood:
2	chr6:15739404..15741557-chr6:15764680..15767519,2	K562	blood:
3	chr6:15739654..15744085-chr6:15745601..15748866,4	K562	blood:
4	chr6:15738603..15741543-chr6:15742364..15744974,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000007944	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1041249	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1267672	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs170229	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs178331	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs186384	0.82[EUR][1000 genomes]
rs1883450	0.82[EUR][1000 genomes]
rs220892	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs220902	1.00[CEU][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs220906	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs220909	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs220910	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs220912	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs220915	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs220916	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs220921	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs220924	0.89[MEX][hapmap]
rs2327912	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2619511	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2619554	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2760113	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs391939	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs400487	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4715994	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4715996	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6459411	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6459412	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6908120	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6926431	1.00[CEU][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs942088	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs942089	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs943726	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428136	chr6:15595640-15781241	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2619513	DTNBP1	cis	parietal	SCAN
rs2619513	DTNBP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15736800-15740000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr6:15737000-15745400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:15739200-15740600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:15739800-15740000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:15739800-15740600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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