Variant report

Variant	rs12549482
Chromosome Location	chr8:20292549-20292550
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20238473..20239020-chr8:20292504..20293024,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10088337	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10788702	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12056755	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13254239	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13259264	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13259699	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13266471	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1476244	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1480345	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17092415	0.87[AMR][1000 genomes]
rs17092418	0.86[AMR][1000 genomes]
rs17092429	0.93[ASN][1000 genomes]
rs2410648	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28555490	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28585690	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28709038	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2898501	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2898502	0.86[AMR][1000 genomes]
rs35158123	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35565447	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35994919	0.87[AMR][1000 genomes]
rs4342621	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4351434	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4461916	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4922197	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4922198	0.87[AMR][1000 genomes]
rs4922199	0.86[AMR][1000 genomes]
rs4922201	0.92[ASN][1000 genomes]
rs4922202	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4922203	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4922204	0.92[ASN][1000 genomes]
rs4922205	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4922206	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57007589	0.87[AMR][1000 genomes]
rs6586913	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6586914	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7002005	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7016105	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7814633	0.81[AMR][1000 genomes]
rs7815251	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7817914	0.87[ASN][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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20283200-20293000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:20289600-20292600	Weak transcription	Stomach Mucosa	stomach
3	chr8:20291200-20293000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr8:20291600-20292600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:20291600-20293000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:20291600-20293000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:20291800-20293000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr8:20291800-20293000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:20291800-20293000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:20291800-20293000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:20291800-20293600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:20291800-20294400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:20291800-20296200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:20292000-20293000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:20292000-20293600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:20292000-20294000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr8:20292000-20294200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr8:20292000-20296000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:20292200-20292800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr8:20292200-20293200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr8:20292400-20293000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr8:20292400-20293200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr8:20292400-20293400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:20292400-20294000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:20292400-20294200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:20292400-20294200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:20292400-20294400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr8:20292400-20294400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr8:20292400-20295000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:20292400-20296000	Enhancers	Primary T cells from cord blood	blood

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