Variant report

Variant	rs2684819
Chromosome Location	chr18:44710691-44710692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44701224..44703839-chr18:44708863..44711758,3	MCF-7	breast:
2	chr18:44685820..44687618-chr18:44709763..44711914,2	K562	blood:

Variant related genes	Relation type
ENSG00000267228	Chromatin interaction
ENSG00000134049	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12953864	0.90[CHB][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12968552	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13381713	0.96[CEU][hapmap];0.86[CHB][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1434529	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512238	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16954921	0.96[CEU][hapmap];0.80[CHB][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16954999	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1836259	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2289133	1.00[CEU][hapmap];0.80[CHB][hapmap];0.90[YRI][hapmap];0.88[EUR][1000 genomes]
rs2317324	0.92[CEU][hapmap]
rs2571002	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2571004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571005	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2571006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571007	0.85[EUR][1000 genomes]
rs2571008	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2571010	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2571014	0.89[CEU][hapmap]
rs2571017	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576052	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2576057	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2576058	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2635051	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2635052	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2635054	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2635056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668758	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2668759	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2668761	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2668762	0.84[EUR][1000 genomes]
rs2668763	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2668784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684833	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2684851	0.82[EUR][1000 genomes]
rs28718304	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55730206	0.89[EUR][1000 genomes]
rs7239323	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8085634	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs9953157	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9956809	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9961383	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[YRI][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv3412252	chr18:44684003-44711534	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44710600-44710800	Enhancers	K562	blood

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