Variant report

Variant	rs12680121
Chromosome Location	chr8:104293818-104293819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104290643..104293920-chr8:104294034..104295976,4	MCF-7	breast:
2	chr8:104290229..104295041-chr8:104295678..104299330,4	MCF-7	breast:
3	chr8:104292150..104293871-chr8:104425235..104426887,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247081	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs12156164	1.00[AFR][1000 genomes]
rs12675012	0.84[EUR][1000 genomes]
rs1389689	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1494279	1.00[AFR][1000 genomes]
rs1608184	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1610204	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs16870276	1.00[AFR][1000 genomes]
rs16870349	1.00[CEU][hapmap]
rs17207827	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs17228576	1.00[CEU][hapmap]
rs17801975	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17802011	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17802089	1.00[CEU][hapmap]
rs2687347	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs2687355	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2687367	1.00[CEU][hapmap]
rs2917546	1.00[CEU][hapmap]
rs2917547	1.00[CEU][hapmap]
rs2917548	1.00[CEU][hapmap]
rs2934725	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3098226	1.00[CEU][hapmap]
rs3134257	1.00[CEU][hapmap]
rs3134260	1.00[CEU][hapmap]
rs3134269	1.00[CEU][hapmap]
rs62525463	1.00[AFR][1000 genomes]
rs62525466	1.00[AFR][1000 genomes]
rs62525469	1.00[AFR][1000 genomes]
rs62525470	1.00[AFR][1000 genomes]
rs62527572	1.00[AFR][1000 genomes]
rs62527574	1.00[AFR][1000 genomes]
rs62527608	1.00[AFR][1000 genomes]
rs62527612	1.00[AFR][1000 genomes]
rs62527613	1.00[AFR][1000 genomes]
rs62528473	1.00[AFR][1000 genomes]
rs62528474	1.00[AFR][1000 genomes]
rs62528478	1.00[AFR][1000 genomes]
rs6468868	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7005750	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs703808	1.00[CEU][hapmap]
rs703809	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs7815503	1.00[AFR][1000 genomes]
rs7841861	1.00[ASN][1000 genomes]
rs827525	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs827527	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs827529	0.88[AMR][1000 genomes]
rs827531	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs827542	1.00[CEU][hapmap]
rs827543	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs827544	1.00[CEU][hapmap]
rs827545	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs827548	0.83[AMR][1000 genomes]
rs827549	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs827551	0.88[AMR][1000 genomes]
rs827589	1.00[CEU][hapmap]
rs861169	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104284800-104295400	Weak transcription	Aorta	Aorta
2	chr8:104288400-104295400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:104289200-104302000	Weak transcription	Fetal Heart	heart
4	chr8:104291200-104294000	Enhancers	Primary hematopoietic stem cells	blood
5	chr8:104291200-104294200	Enhancers	HUVEC	blood vessel
6	chr8:104291400-104294000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:104291400-104294800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:104292400-104294000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:104292800-104295400	Enhancers	HepG2	liver
10	chr8:104293000-104294400	Enhancers	Osteobl	bone
11	chr8:104293200-104294200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:104293200-104294400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:104293200-104294400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:104293200-104294600	Enhancers	NHDF-Ad	bronchial
15	chr8:104293200-104294800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:104293200-104295200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:104293400-104294000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:104293400-104294200	Enhancers	Fetal Muscle Leg	muscle
19	chr8:104293400-104294200	Enhancers	NHLF	lung
20	chr8:104293400-104294400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:104293400-104294400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr8:104293400-104294600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:104293400-104294600	Enhancers	Adipose Nuclei	Adipose
24	chr8:104293400-104295200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:104293400-104295400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:104293600-104294200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:104293600-104294200	Enhancers	HSMMtube	muscle
28	chr8:104293600-104294400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:104293800-104294000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr8:104293800-104294200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:104293800-104294200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr8:104293800-104294600	Enhancers	Fetal Stomach	stomach
33	chr8:104293800-104294800	Enhancers	Left Ventricle	heart
34	chr8:104293800-104310000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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