Variant report

Variant	rs706300
Chromosome Location	chr5:14984221-14984222
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	chr5:14975224..14977904-chr5:14982608..14984331,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs2591533	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3006072	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3006073	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs706297	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs706298	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs706299	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs835066	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs835067	0.81[EUR][1000 genomes]
rs835068	0.89[EUR][1000 genomes]
rs835069	0.89[EUR][1000 genomes]
rs835070	0.91[EUR][1000 genomes]
rs835071	0.90[EUR][1000 genomes]
rs835072	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835077	0.80[EUR][1000 genomes]
rs835078	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs835079	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835080	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835085	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835086	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835087	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs835088	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs835089	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs835090	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs835091	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs835093	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs835096	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs835097	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs835098	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs835100	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs835108	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs835109	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs835110	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs835111	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs835113	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs835114	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs835115	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs835116	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs835117	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs835119	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs856529	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs856530	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs860664	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs861339	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv432717	chr5:14887400-15126500	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1017579	chr5:14888997-15194335	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv461982	chr5:14943456-15044842	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv597262	chr5:14943456-15044842	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv470991	chr5:14949696-15022112	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14977600-14984400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:14983000-14985600	Enhancers	Primary hematopoietic stem cells	blood
3	chr5:14983000-14985800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr5:14983400-14985600	Enhancers	Dnd41	blood
5	chr5:14983600-14985600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr5:14983600-14985800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr5:14983800-14984400	Enhancers	HepG2	liver
8	chr5:14983800-14984600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:14983800-14984800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:14983800-14985600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr5:14983800-14985600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:14983800-14985600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr5:14983800-14985600	Enhancers	Fetal Thymus	thymus
14	chr5:14983800-14985800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:14983800-14985800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr5:14984000-14984400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:14984000-14984400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr5:14984000-14984600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr5:14984000-14984600	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr5:14984000-14984600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr5:14984000-14984600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr5:14984000-14985200	Enhancers	Primary B cells from peripheral blood	blood
23	chr5:14984000-14985200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr5:14984000-14985200	Enhancers	Thymus	Thymus
25	chr5:14984000-14985600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:14984000-14985600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:14984000-14985600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:14984000-14985600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr5:14984200-14984600	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr5:14984200-14986200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:14984200-14988200	Weak transcription	Duodenum Mucosa	Duodenum

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