Variant report

Variant	rs2279112
Chromosome Location	chr8:120429024-120429025
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	chr8:120276101..120276967-chr8:120428773..120429772,7	MCF-7	breast:
2	chr8:120275989..120276836-chr8:120428860..120429618,5	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10505355	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10955927	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11776544	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11778491	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11781027	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11781723	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11782103	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11782995	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11784242	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1381333	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1381334	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1381335	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1381338	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1461691	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1461693	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1461695	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1461696	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1461697	0.90[ASN][1000 genomes]
rs1461698	0.90[ASN][1000 genomes]
rs16892491	0.90[ASN][1000 genomes]
rs16892497	0.90[ASN][1000 genomes]
rs16892511	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16892552	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16892582	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16892586	0.90[ASN][1000 genomes]
rs16892623	0.90[ASN][1000 genomes]
rs16892625	0.90[ASN][1000 genomes]
rs16892628	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16892630	0.90[ASN][1000 genomes]
rs16892631	0.90[ASN][1000 genomes]
rs16892633	0.90[ASN][1000 genomes]
rs16892636	0.90[ASN][1000 genomes]
rs16892639	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16892644	0.90[ASN][1000 genomes]
rs16892646	0.90[ASN][1000 genomes]
rs1870779	0.93[ASN][1000 genomes]
rs2071519	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2071526	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2326246	0.90[ASN][1000 genomes]
rs4123837	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55976504	0.88[ASN][1000 genomes]
rs56768061	0.90[ASN][1000 genomes]
rs56860849	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57103042	0.90[ASN][1000 genomes]
rs58210708	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58576806	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60484498	0.90[ASN][1000 genomes]
rs67665719	0.92[EUR][1000 genomes]
rs67980272	0.84[ASN][1000 genomes]
rs6982139	0.90[ASN][1000 genomes]
rs6983056	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6983393	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6990760	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6993389	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6997943	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7012790	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7014927	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7015188	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7016011	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72684286	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72684287	0.84[ASN][1000 genomes]
rs72684288	0.84[ASN][1000 genomes]
rs72684289	0.88[ASN][1000 genomes]
rs72684293	0.90[ASN][1000 genomes]
rs72686305	0.90[ASN][1000 genomes]
rs72686306	0.90[ASN][1000 genomes]
rs73711267	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7815177	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7815390	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7832471	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7834596	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7839760	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs922265	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1026655	chr8:120282929-120522329	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120428000-120429200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
2	chr8:120428000-120429400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr8:120428000-120429400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:120428000-120429400	Active TSS	Brain Anterior Caudate	brain
5	chr8:120428000-120429400	Active TSS	Brain Germinal Matrix	brain
6	chr8:120428000-120429600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:120428000-120429600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr8:120428000-120429600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:120428000-120429600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr8:120428000-120429600	Active TSS	Brain Angular Gyrus	brain
11	chr8:120428000-120429800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:120428000-120429800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:120428000-120430200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:120428000-120431200	Active TSS	Aorta	Aorta
15	chr8:120428200-120429200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:120428200-120429200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr8:120428200-120429200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:120428200-120429200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr8:120428200-120429200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:120428200-120429200	Flanking Active TSS	Liver	Liver
21	chr8:120428200-120429200	Flanking Active TSS	Lung	lung
22	chr8:120428200-120429200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr8:120428200-120429400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:120428200-120429400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:120428200-120429400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:120428200-120429400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr8:120428200-120429400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:120428200-120429400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr8:120428200-120429400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
30	chr8:120428200-120429400	Flanking Active TSS	Pancreas	Pancrea
31	chr8:120428200-120429400	Active TSS	Psoas Muscle	Psoas
32	chr8:120428200-120429400	Active TSS	Rectal Smooth Muscle	rectum
33	chr8:120428200-120429400	Flanking Active TSS	Right Ventricle	heart
34	chr8:120428200-120429400	Active TSS	A549	lung
35	chr8:120428200-120429400	Flanking Active TSS	HMEC	breast
36	chr8:120428200-120429400	Flanking Active TSS	HUVEC	blood vessel
37	chr8:120428200-120429400	Flanking Active TSS	NH-A	brain
38	chr8:120428200-120429400	Flanking Active TSS	NHEK	skin
39	chr8:120428200-120429600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr8:120428200-120429600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:120428200-120429600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
42	chr8:120428200-120429600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr8:120428200-120429600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:120428200-120429600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:120428200-120429600	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr8:120428200-120429600	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr8:120428200-120429600	Active TSS	Fetal Kidney	kidney
48	chr8:120428200-120429600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr8:120428200-120429600	Active TSS	Right Atrium	heart
50	chr8:120428200-120429600	Flanking Active TSS	Osteobl	bone

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