Variant report

Variant	rs13282967
Chromosome Location	chr8:104294211-104294212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104294104..104296168-chr8:104309855..104312026,2	MCF-7	breast:
2	chr8:104294096..104296661-chr8:104309183..104312347,3	MCF-7	breast:
3	chr8:104290229..104295041-chr8:104295678..104299330,4	MCF-7	breast:
4	chr8:104290643..104293920-chr8:104294034..104295976,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10089343	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10090069	0.83[ASN][1000 genomes]
rs10094939	1.00[CHB][hapmap]
rs10096207	0.83[ASN][1000 genomes]
rs10097121	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10101517	0.83[ASN][1000 genomes]
rs10102413	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10103739	0.83[ASN][1000 genomes]
rs10105195	0.83[ASN][1000 genomes]
rs10105450	0.83[ASN][1000 genomes]
rs10106795	1.00[ASN][1000 genomes]
rs10109642	0.83[ASN][1000 genomes]
rs10112450	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10112941	0.83[ASN][1000 genomes]
rs10112952	0.83[ASN][1000 genomes]
rs10113160	0.83[ASN][1000 genomes]
rs10113367	0.83[ASN][1000 genomes]
rs1032471	1.00[CHB][hapmap]
rs10481102	1.00[AFR][1000 genomes]
rs1061196	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11779349	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781628	1.00[CHB][hapmap]
rs11785583	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11985002	0.83[ASN][1000 genomes]
rs12707777	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13255562	0.83[ASN][1000 genomes]
rs13257958	0.83[ASN][1000 genomes]
rs13258345	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263611	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13266347	0.83[ASN][1000 genomes]
rs13266642	0.83[ASN][1000 genomes]
rs13273192	1.00[ASN][1000 genomes]
rs13278335	0.83[ASN][1000 genomes]
rs1370007	1.00[CHB][hapmap]
rs17205821	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17228538	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17802416	1.00[CHB][hapmap]
rs17802518	0.83[ASN][1000 genomes]
rs17804088	1.00[CHB][hapmap]
rs17804149	1.00[CHB][hapmap]
rs28437723	0.83[ASN][1000 genomes]
rs28811720	0.83[ASN][1000 genomes]
rs28862349	0.83[ASN][1000 genomes]
rs2948449	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3104026	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34208282	1.00[ASN][1000 genomes]
rs35225263	0.83[ASN][1000 genomes]
rs35392014	0.83[ASN][1000 genomes]
rs57237927	0.83[ASN][1000 genomes]
rs6468866	1.00[ASN][1000 genomes]
rs6985718	0.83[ASN][1000 genomes]
rs6989714	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs6990501	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71520811	0.83[ASN][1000 genomes]
rs71520812	0.83[ASN][1000 genomes]
rs72675443	0.83[ASN][1000 genomes]
rs72675444	0.83[ASN][1000 genomes]
rs72675445	0.83[ASN][1000 genomes]
rs7464317	1.00[ASN][1000 genomes]
rs7820626	0.83[ASN][1000 genomes]
rs7839421	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7845210	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs827528	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs827537	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs827538	1.00[ASN][1000 genomes]
rs827546	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs951826	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs973242	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs981816	1.00[CHB][hapmap]

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:28 , 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	chr8:104291400-104294800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:104292800-104295400	Enhancers	HepG2	liver
6	chr8:104293000-104294400	Enhancers	Osteobl	bone
7	chr8:104293200-104294400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:104293200-104294400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:104293200-104294600	Enhancers	NHDF-Ad	bronchial
10	chr8:104293200-104294800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:104293200-104295200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:104293400-104294400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:104293400-104294400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:104293400-104294600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:104293400-104294600	Enhancers	Adipose Nuclei	Adipose
16	chr8:104293400-104295200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:104293400-104295400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:104293600-104294400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:104293800-104294600	Enhancers	Fetal Stomach	stomach
20	chr8:104293800-104294800	Enhancers	Left Ventricle	heart
21	chr8:104293800-104310000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:104294000-104294600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:104294000-104296800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:104294000-104306000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:104294000-104306000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:104294200-104295400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:104294200-104295400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:104294200-104300000	Weak transcription	NHLF	lung

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