Variant report

Variant	rs73283949
Chromosome Location	chr8:104293798-104293799
allele	C/T
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: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10089245	0.82[ASN][1000 genomes]
rs10097018	0.82[ASN][1000 genomes]
rs10103573	0.84[ASN][1000 genomes]
rs10955313	0.84[ASN][1000 genomes]
rs11782632	0.82[ASN][1000 genomes]
rs12678419	0.91[ASN][1000 genomes]
rs16870240	0.93[EUR][1000 genomes]
rs17799574	0.82[ASN][1000 genomes]
rs2201369	0.82[ASN][1000 genomes]
rs2201370	0.82[ASN][1000 genomes]
rs34602800	0.82[ASN][1000 genomes]
rs35710705	0.82[ASN][1000 genomes]
rs3736045	0.88[ASN][1000 genomes]
rs57766637	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60751214	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525471	0.91[ASN][1000 genomes]
rs6985929	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6997475	0.93[EUR][1000 genomes]
rs7002454	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7005789	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73283939	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73283943	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7817074	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7818987	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7822939	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7835655	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7844873	0.84[ASN][1000 genomes]
rs996200	0.85[ASN][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:33 , 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	chr8:104290200-104293800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:104291200-104294000	Enhancers	Primary hematopoietic stem cells	blood
6	chr8:104291200-104294200	Enhancers	HUVEC	blood vessel
7	chr8:104291400-104294000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:104291400-104294800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:104291800-104293800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:104292000-104293800	Weak transcription	Fetal Stomach	stomach
11	chr8:104292000-104293800	Weak transcription	Left Ventricle	heart
12	chr8:104292400-104294000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:104292800-104295400	Enhancers	HepG2	liver
14	chr8:104293000-104294400	Enhancers	Osteobl	bone
15	chr8:104293200-104294200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:104293200-104294400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:104293200-104294400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:104293200-104294600	Enhancers	NHDF-Ad	bronchial
19	chr8:104293200-104294800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:104293200-104295200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:104293400-104293800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:104293400-104294000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:104293400-104294200	Enhancers	Fetal Muscle Leg	muscle
24	chr8:104293400-104294200	Enhancers	NHLF	lung
25	chr8:104293400-104294400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:104293400-104294400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:104293400-104294600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:104293400-104294600	Enhancers	Adipose Nuclei	Adipose
29	chr8:104293400-104295200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:104293400-104295400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:104293600-104294200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:104293600-104294200	Enhancers	HSMMtube	muscle
33	chr8:104293600-104294400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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