Variant report

Variant	rs12675378
Chromosome Location	chr8:48450694-48450695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48430923..48433623-chr8:48450374..48452837,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10957549	0.96[EUR][1000 genomes]
rs10957644	0.98[EUR][1000 genomes]
rs10958058	0.97[EUR][1000 genomes]
rs1106607	0.96[EUR][1000 genomes]
rs11775628	0.86[ASN][1000 genomes]
rs11778548	0.86[EUR][1000 genomes]
rs11782572	0.95[EUR][1000 genomes]
rs11784823	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12544329	0.98[EUR][1000 genomes]
rs12549996	0.98[EUR][1000 genomes]
rs12678110	0.91[EUR][1000 genomes]
rs16928696	0.96[EUR][1000 genomes]
rs1872840	0.89[EUR][1000 genomes]
rs2129617	0.92[EUR][1000 genomes]
rs2129618	0.92[EUR][1000 genomes]
rs2130412	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2130413	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4489323	0.87[EUR][1000 genomes]
rs4536257	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4608108	0.96[EUR][1000 genomes]
rs4873368	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4873395	0.97[EUR][1000 genomes]
rs4873399	0.94[EUR][1000 genomes]
rs4873437	0.98[EUR][1000 genomes]
rs4873507	0.89[EUR][1000 genomes]
rs4873529	0.91[EUR][1000 genomes]
rs4873565	0.92[EUR][1000 genomes]
rs4873619	0.86[EUR][1000 genomes]
rs55941013	0.95[EUR][1000 genomes]
rs56092229	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62539116	0.94[EUR][1000 genomes]
rs62539144	0.91[EUR][1000 genomes]
rs62539147	0.91[EUR][1000 genomes]
rs62539150	0.89[EUR][1000 genomes]
rs6982620	0.96[EUR][1000 genomes]
rs6987043	0.87[EUR][1000 genomes]
rs6989917	0.96[EUR][1000 genomes]
rs876915	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs923499	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48434000-48455400	Weak transcription	Primary T cells from cord blood	blood
2	chr8:48438800-48452400	Weak transcription	HSMM	muscle
3	chr8:48439800-48455400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:48440000-48452600	Weak transcription	Fetal Kidney	kidney
5	chr8:48442600-48454400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:48442800-48456000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:48446800-48452400	Weak transcription	Fetal Intestine Small	intestine
8	chr8:48447200-48466200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:48450200-48452400	Weak transcription	Liver	Liver

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