Variant report

Variant	rs1046217
Chromosome Location	chr5:92954716-92954717
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:92918392..92920422-chr5:92954459..92956574,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175745	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10038831	0.88[JPT][hapmap]
rs10041792	0.88[JPT][hapmap]
rs1004941	0.93[CEU][hapmap];0.88[JPT][hapmap]
rs10050364	0.86[JPT][hapmap]
rs10051878	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10060331	0.86[JPT][hapmap]
rs10067541	0.81[CEU][hapmap];0.88[JPT][hapmap]
rs10071040	0.88[JPT][hapmap]
rs1031424	0.85[JPT][hapmap]
rs1038686	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs10476520	0.88[JPT][hapmap]
rs10514376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12186878	0.93[CEU][hapmap]
rs13154650	0.86[JPT][hapmap]
rs13161885	0.86[JPT][hapmap]
rs13164315	0.88[JPT][hapmap]
rs13357713	0.86[JPT][hapmap]
rs1453003	0.86[JPT][hapmap]
rs17083264	0.80[EUR][1000 genomes]
rs17083278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17083280	0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17083297	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs17312456	0.86[JPT][hapmap]
rs17372615	0.88[JPT][hapmap]
rs17372649	0.88[JPT][hapmap]
rs17372725	0.86[JPT][hapmap]
rs1844343	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2279473	0.80[ASN][1000 genomes]
rs2924374	0.86[JPT][hapmap]
rs3776601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs56069221	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56259161	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57924239	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58143801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58237393	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58919600	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59544418	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60553989	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60827958	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61110137	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61429325	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6556828	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6556829	0.93[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6556834	0.86[JPT][hapmap]
rs6877616	0.86[JPT][hapmap]
rs6879620	0.88[JPT][hapmap]
rs6881815	0.86[JPT][hapmap]
rs6884138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6890998	0.86[JPT][hapmap]
rs6892853	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895356	0.88[JPT][hapmap]
rs6898507	0.86[JPT][hapmap]
rs73135320	0.80[ASN][1000 genomes]
rs73135321	0.80[ASN][1000 genomes]
rs73135334	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73135354	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73135367	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135371	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135373	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73135374	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135376	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135377	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7702348	0.88[JPT][hapmap]
rs7702649	0.86[JPT][hapmap]
rs7704972	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7710106	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7712388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7713956	0.86[JPT][hapmap]
rs7717718	0.88[JPT][hapmap]
rs7721168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7721509	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7731223	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7736624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314086	0.86[JPT][hapmap]

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	esv3451945	chr5:92858750-93024740	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv830404	chr5:92868336-93048257	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv1819334	chr5:92892591-92956733	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv823130	chr5:92896346-92966016	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv823132	chr5:92898512-92969668	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 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	chr5:92950000-92955800	Weak transcription	NHDF-Ad	bronchial
2	chr5:92950200-92955200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:92953200-92955000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:92953600-92955600	Weak transcription	Hela-S3	cervix
5	chr5:92953600-92956000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:92954000-92956000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
7	chr5:92954200-92955800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:92954600-92954800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
9	chr5:92954600-92955800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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