Variant report

Variant	rs61133464
Chromosome Location	chr5:49742652-49742653
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	chr5:49736414..49737923-chr5:49740071..49742726,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170571	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13154421	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13158256	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13169411	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13174803	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13185634	0.95[EUR][1000 genomes]
rs13189140	0.96[EUR][1000 genomes]
rs17192300	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17192503	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17800685	0.90[EUR][1000 genomes]
rs1962207	0.95[EUR][1000 genomes]
rs34982640	0.85[AFR][1000 genomes]
rs35005767	0.83[EUR][1000 genomes]
rs35647517	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35703604	0.82[EUR][1000 genomes]
rs35831659	0.84[EUR][1000 genomes]
rs36108557	0.85[EUR][1000 genomes]
rs363983	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58931923	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6893317	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71631463	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs71631464	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71631467	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71631474	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs71631475	0.83[EUR][1000 genomes]
rs7709512	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032003	chr5:49455624-49881491	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1023981	chr5:49584188-49871537	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv537757	chr5:49584188-49871537	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022067	chr5:49584188-49960083	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537758	chr5:49584188-49960083	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv916441	chr5:49584313-49831223	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv523212	chr5:49597497-50058043	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv980642	chr5:49739665-49754975	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61133464	LOC647121	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49740400-49743400	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr5:49740600-49742800	Enhancers	Primary B cells from peripheral blood	blood
3	chr5:49740600-49744800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr5:49741600-49743600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:49741600-49744000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr5:49741600-49745400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:49741800-49744000	Enhancers	Primary T cells from cord blood	blood
8	chr5:49741800-49744200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr5:49742000-49743800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:49742000-49743800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:49742000-49744400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:49742000-49745400	Weak transcription	Thymus	Thymus
13	chr5:49742000-49745600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:49742200-49744400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr5:49742200-49745400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:49742200-49746000	Enhancers	Dnd41	blood
17	chr5:49742400-49744600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:49742600-49743000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:49742600-49743600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr5:49742600-49745400	Weak transcription	Primary B cells from cord blood	blood
21	chr5:49742600-49745800	Weak transcription	Primary T cells fromperipheralblood	blood

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