Variant report

Variant	rs6573982
Chromosome Location	chr14:71290478-71290479
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71288544..71291419-chr14:71373851..71375362,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100731	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10083428	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483834	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847356	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847373	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548584	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108554	0.83[EUR][1000 genomes]
rs17176985	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17177014	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17766512	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17766551	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17766661	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859460	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859461	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2023954	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742847	0.87[EUR][1000 genomes]
rs4902857	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902858	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902859	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57284652	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57843652	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59858521	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60533515	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61988426	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61988427	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990472	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990476	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990481	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990518	0.93[EUR][1000 genomes]
rs61990519	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990520	0.83[EUR][1000 genomes]
rs61990521	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990523	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990526	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61990527	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61990550	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990551	0.85[EUR][1000 genomes]
rs6573983	0.85[EUR][1000 genomes]
rs7141204	0.85[EUR][1000 genomes]
rs7150427	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151024	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757570	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006715	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018972	0.83[EUR][1000 genomes]
rs8019053	0.84[EUR][1000 genomes]
rs8020803	0.85[EUR][1000 genomes]
rs8022621	0.95[EUR][1000 genomes];1.00[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	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71289800-71293600	Weak transcription	Liver	Liver
2	chr14:71289800-71294000	Weak transcription	HSMM	muscle
3	chr14:71290000-71290600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:71290000-71290600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:71290000-71290600	Enhancers	Brain Anterior Caudate	brain
6	chr14:71290000-71290800	Enhancers	Fetal Intestine Small	intestine
7	chr14:71290000-71291200	Weak transcription	Ovary	ovary
8	chr14:71290000-71291400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:71290000-71294000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:71290000-71294000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr14:71290000-71294000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:71290000-71298600	Weak transcription	Right Atrium	heart
13	chr14:71290200-71290800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr14:71290400-71290600	Enhancers	Right Ventricle	heart
15	chr14:71290400-71291400	Weak transcription	Fetal Intestine Large	intestine

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