Variant report

Variant	rs28407694
Chromosome Location	chr8:66861738-66861739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66844282..66846340-chr8:66858870..66861853,2	MCF-7	breast:
2	chr8:66861177..66863828-chr8:66940545..66942693,2	MCF-7	breast:
3	chr8:66752670..66756461-chr8:66859172..66862943,6	MCF-7	breast:
4	chr8:66860378..66862946-chr8:66940064..66944249,3	MCF-7	breast:
5	chr8:66861232..66863440-chr8:66868991..66871927,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205268	Chromatin interaction
ENSG00000272192	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11984566	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11984618	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11986470	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11988712	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11996694	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34653832	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56080166	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56389721	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60120959	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60258162	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6472232	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6472236	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6472238	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6981354	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6994725	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7461470	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7817474	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7841181	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1023239	chr8:66775321-66904124	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66851400-66862000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:66854000-66863400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr8:66854000-66863600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr8:66854000-66863600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:66854200-66863200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr8:66854400-66863400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:66855400-66863200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:66855400-66863400	Enhancers	Primary B cells from peripheral blood	blood
9	chr8:66855600-66863200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:66855600-66863400	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:66855600-66863400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr8:66856800-66863600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:66857400-66863600	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:66858800-66863000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:66859600-66864600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:66859600-66865200	Flanking Active TSS	Dnd41	blood
17	chr8:66859800-66863800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr8:66860000-66861800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:66860200-66861800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr8:66860200-66862000	Enhancers	Duodenum Mucosa	Duodenum
21	chr8:66860200-66865200	Flanking Active TSS	GM12878-XiMat	blood
22	chr8:66860400-66861800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr8:66860400-66862200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:66860600-66862000	Flanking Active TSS	Thymus	Thymus
25	chr8:66860600-66863400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr8:66860800-66861800	Enhancers	Fetal Stomach	stomach
27	chr8:66860800-66861800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr8:66860800-66861800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr8:66860800-66862000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr8:66860800-66862000	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr8:66860800-66862000	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr8:66860800-66862000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:66860800-66862000	Flanking Active TSS	Fetal Thymus	thymus
34	chr8:66860800-66864200	Enhancers	Spleen	Spleen
35	chr8:66861000-66861800	Enhancers	Colonic Mucosa	Colon
36	chr8:66861000-66861800	Flanking Active TSS	Hela-S3	cervix
37	chr8:66861000-66861800	Flanking Active TSS	NHEK	skin
38	chr8:66861000-66862000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr8:66861200-66861800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:66861200-66862000	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr8:66861200-66864000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:66861400-66862600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr8:66861400-66862600	Weak transcription	Esophagus	oesophagus
44	chr8:66861400-66864400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:66861600-66861800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr8:66861600-66863200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:66861600-66863200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr8:66861600-66863400	Weak transcription	Placenta	Placenta
49	chr8:66861600-66863800	Enhancers	HMEC	breast
50	chr8:66861600-66864600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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