Variant report

Variant	rs7833483
Chromosome Location	chr8:105595254-105595255
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	chr8:105594673..105597308-chr8:105598908..105601422,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147650	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10505060	0.85[AMR][1000 genomes]
rs16871526	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871573	0.83[AMR][1000 genomes]
rs16871583	0.80[YRI][hapmap];0.83[AMR][1000 genomes]
rs4623378	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57833872	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59281154	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59552566	0.83[AMR][1000 genomes]
rs61129183	0.83[AMR][1000 genomes]
rs6468937	0.88[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7016642	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73295108	0.83[AMR][1000 genomes]
rs73295119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73295122	0.83[AMR][1000 genomes]
rs73295133	0.83[AMR][1000 genomes]
rs73295137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73295149	0.85[AMR][1000 genomes]
rs73297124	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7812405	0.83[AMR][1000 genomes]
rs7813553	0.83[AMR][1000 genomes]
rs7813587	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813945	1.00[EUR][1000 genomes]
rs7815209	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7819498	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824866	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7835029	0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7837425	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838928	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105581600-105598600	Weak transcription	Osteobl	bone
2	chr8:105584200-105600000	Weak transcription	Aorta	Aorta
3	chr8:105584600-105598000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:105588400-105598000	Weak transcription	Fetal Heart	heart
5	chr8:105592000-105598000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:105592400-105597800	Weak transcription	Fetal Brain Male	brain
7	chr8:105593400-105597800	Enhancers	Dnd41	blood
8	chr8:105593600-105595400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:105594000-105596000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:105594000-105596800	Weak transcription	A549	lung
11	chr8:105594000-105597600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:105594600-105595600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:105594800-105598200	Active TSS	GM12878-XiMat	blood
14	chr8:105595200-105595400	Enhancers	Fetal Brain Female	brain
15	chr8:105595200-105595800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:105595200-105596000	Enhancers	Right Ventricle	heart
17	chr8:105595200-105596000	ZNF genes & repeats	K562	blood

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