Variant report

Variant	rs12682501
Chromosome Location	chr8:121881153-121881154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:121820968..121821651-chr8:121880472..121881467,2	MCF-7	breast:
2	chr8:121820878..121821805-chr8:121881097..121881747,2	MCF-7	breast:
3	chr8:121880794..121881516-chr8:121950983..121951887,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10955995	0.85[EUR][1000 genomes]
rs12681019	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12682500	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2891946	0.81[EUR][1000 genomes]
rs4332176	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4498598	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7463588	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers 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	nsv891423	chr8:121847643-121994660	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv891425	chr8:121875083-122025559	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121880400-121881400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:121880400-121881400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr8:121880400-121881400	Active TSS	NHDF-Ad	bronchial
4	chr8:121880600-121881200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:121880600-121881400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:121880600-121881400	Enhancers	Primary B cells from cord blood	blood
7	chr8:121880600-121881400	Enhancers	Primary B cells from peripheral blood	blood
8	chr8:121880600-121881400	Active TSS	Primary hematopoietic stem cells	blood
9	chr8:121880600-121881400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr8:121880800-121881200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:121880800-121881200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:121880800-121881200	Active TSS	Right Atrium	heart
13	chr8:121880800-121881200	Active TSS	GM12878-XiMat	blood
14	chr8:121880800-121881400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr8:121880800-121881400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr8:121880800-121881400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr8:121880800-121881400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr8:121880800-121881400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:121880800-121881400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:121880800-121881400	Active TSS	Duodenum Mucosa	Duodenum
21	chr8:121880800-121881400	Active TSS	Fetal Kidney	kidney
22	chr8:121880800-121881400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr8:121880800-121881400	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr8:121880800-121881400	Active TSS	Osteobl	bone
25	chr8:121881000-121881200	Active TSS	Primary T cells from cord blood	blood
26	chr8:121881000-121881200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:121881000-121881200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
28	chr8:121881000-121881200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:121881000-121881200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:121881000-121881200	Active TSS	Adipose Nuclei	Adipose
31	chr8:121881000-121881200	Active TSS	Liver	Liver
32	chr8:121881000-121881200	Active TSS	Fetal Intestine Small	intestine
33	chr8:121881000-121881200	Flanking Active TSS	Placenta	Placenta
34	chr8:121881000-121881200	Active TSS	Ovary	ovary
35	chr8:121881000-121881200	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr8:121881000-121881200	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr8:121881000-121881200	Enhancers	HepG2	liver
38	chr8:121881000-121881400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:121881000-121881400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:121881000-121881400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr8:121881000-121881400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr8:121881000-121881400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr8:121881000-121881400	Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr8:121881000-121881400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:121881000-121881400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:121881000-121881400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:121881000-121881400	Active TSS	Aorta	Aorta
48	chr8:121881000-121881400	Active TSS	Brain Anterior Caudate	brain
49	chr8:121881000-121881400	Active TSS	Colonic Mucosa	Colon
50	chr8:121881000-121881400	Active TSS	Colon Smooth Muscle	Colon

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