Variant report

Variant	rs3133798
Chromosome Location	chr8:104281878-104281879
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	chr8:104279333..104281935-chr8:104310595..104312938,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164930	Chromatin interaction
ENSG00000247081	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1004468	0.81[CEU][hapmap]
rs10096928	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10505042	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs1095714	0.84[EUR][1000 genomes]
rs1494280	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1522707	0.83[JPT][hapmap]
rs1522708	0.81[CEU][hapmap]
rs1522710	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs1522711	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs1522712	0.81[EUR][1000 genomes]
rs1851483	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs2642363	0.82[EUR][1000 genomes]
rs2642364	0.82[EUR][1000 genomes]
rs2642366	0.82[EUR][1000 genomes]
rs2642368	0.84[EUR][1000 genomes]
rs28392906	0.81[EUR][1000 genomes]
rs2934726	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3104033	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3107646	0.83[JPT][hapmap]
rs3133833	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3133837	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3736047	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs3808559	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs6999018	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs827541	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104268200-104283400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:104269000-104283400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:104269800-104283200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:104269800-104283600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:104279200-104282600	Enhancers	NHDF-Ad	bronchial
6	chr8:104279400-104282000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:104279400-104282400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:104279400-104282600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:104279400-104282800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:104279600-104282600	Enhancers	Osteobl	bone
11	chr8:104279600-104282800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:104279600-104282800	Enhancers	NHLF	lung
13	chr8:104280000-104283400	Weak transcription	Aorta	Aorta
14	chr8:104280200-104283400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:104280800-104283000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:104281000-104282200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:104281000-104282800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:104281200-104282000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:104281200-104282200	Enhancers	NH-A	brain
20	chr8:104281800-104282000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:104281800-104282200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:104281800-104283000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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