Variant report

Variant	rs2447532
Chromosome Location	chr8:119082321-119082322
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	chr8:119081594..119083586-chr8:119085175..119088517,3	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1824175	0.82[ASN][1000 genomes]
rs1824176	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1838	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445903	0.92[ASN][1000 genomes]
rs2447528	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447529	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2447530	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2447534	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447542	0.91[CEU][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes]
rs2451157	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2451158	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2451159	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2451160	0.82[CEU][hapmap];0.97[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2468134	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2468135	0.93[ASN][1000 genomes]
rs2514716	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2514718	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2514754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2514755	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2514756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119062200-119083600	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:119062800-119085000	Weak transcription	Fetal Stomach	stomach
3	chr8:119068000-119085600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:119069200-119091600	Weak transcription	Primary T cells from cord blood	blood
5	chr8:119073400-119083400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:119074000-119086200	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:119074000-119087200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:119074800-119086400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:119074800-119088600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:119075000-119102000	Weak transcription	Spleen	Spleen
11	chr8:119075600-119086000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:119075800-119083600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:119075800-119085800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:119075800-119086200	Weak transcription	Right Atrium	heart
15	chr8:119075800-119086400	Weak transcription	Brain Anterior Caudate	brain
16	chr8:119076000-119086200	Weak transcription	Right Ventricle	heart
17	chr8:119076400-119086200	Weak transcription	Left Ventricle	heart
18	chr8:119076400-119086200	Weak transcription	Lung	lung
19	chr8:119078000-119099000	Weak transcription	Dnd41	blood
20	chr8:119078200-119083600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr8:119078200-119085200	Weak transcription	Fetal Brain Male	brain
22	chr8:119078400-119085800	Weak transcription	Fetal Heart	heart
23	chr8:119078400-119086600	Weak transcription	Pancreas	Pancrea
24	chr8:119078400-119088400	Weak transcription	Hela-S3	cervix
25	chr8:119078400-119091600	Weak transcription	Gastric	stomach
26	chr8:119079200-119086200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:119079200-119086400	Weak transcription	Brain Substantia Nigra	brain
28	chr8:119080000-119082400	Strong transcription	HSMM	muscle
29	chr8:119080000-119084800	Genic enhancers	Osteobl	bone
30	chr8:119080200-119082400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:119080200-119083400	Weak transcription	HSMMtube	muscle
32	chr8:119080200-119086000	Weak transcription	HMEC	breast
33	chr8:119080200-119086200	Weak transcription	Fetal Brain Female	brain
34	chr8:119080400-119083400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:119080400-119083600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:119080600-119083000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:119080600-119086200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr8:119080800-119085600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:119081000-119082400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr8:119081000-119082600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr8:119081200-119082400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr8:119081200-119082400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr8:119081200-119084200	Enhancers	Fetal Lung	lung
44	chr8:119081400-119086400	Weak transcription	Esophagus	oesophagus
45	chr8:119081600-119083800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:119081600-119085000	Weak transcription	Adipose Nuclei	Adipose
47	chr8:119081600-119086200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:119081600-119087400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:119081800-119082800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:119081800-119082800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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