Variant report

Variant	rs1949884
Chromosome Location	chr10:50771419-50771420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50745533..50748359-chr10:50769870..50771908,2	MCF-7	breast:
2	chr10:50770715..50773687-chr10:50775612..50777273,2	K562	blood:
3	chr10:50760754..50763367-chr10:50770167..50772403,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258838	Chromatin interaction
ENSG00000225830	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10776582	0.89[ASN][1000 genomes]
rs10857507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10857508	0.91[ASN][1000 genomes]
rs10857509	0.90[ASN][1000 genomes]
rs11101159	0.90[ASN][1000 genomes]
rs11101164	0.90[ASN][1000 genomes]
rs11101165	0.87[ASN][1000 genomes]
rs11101166	0.83[ASN][1000 genomes]
rs11101175	0.84[ASN][1000 genomes]
rs11527800	0.87[ASN][1000 genomes]
rs12221479	0.87[ASN][1000 genomes]
rs12570332	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs1917817	0.83[ASN][1000 genomes]
rs1949883	0.86[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2103202	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2177820	0.86[ASN][1000 genomes]
rs2377902	0.90[ASN][1000 genomes]
rs3750746	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs4453140	0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs4838529	0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs6537539	0.83[ASN][1000 genomes]
rs7078115	0.89[ASN][1000 genomes]
rs7080837	0.89[ASN][1000 genomes]
rs7081904	0.89[ASN][1000 genomes]
rs7095259	0.89[ASN][1000 genomes]
rs7098129	0.97[ASN][1000 genomes]
rs72795703	0.83[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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1949884	ERCC6	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50768600-50773200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr10:50770000-50773000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr10:50770000-50773400	Enhancers	Osteobl	bone
4	chr10:50770200-50773400	Enhancers	Hela-S3	cervix
5	chr10:50770200-50773800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr10:50770400-50772000	Enhancers	HSMM	muscle
7	chr10:50770400-50773200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:50770600-50772600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:50770800-50771600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:50770800-50773200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:50771000-50771800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:50771000-50771800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:50771000-50772800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:50771000-50773400	Enhancers	HMEC	breast
15	chr10:50771200-50771600	Enhancers	NH-A	brain
16	chr10:50771200-50772000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:50771200-50772800	Enhancers	NHDF-Ad	bronchial
18	chr10:50771200-50773000	Enhancers	HSMMtube	muscle
19	chr10:50771200-50773400	Enhancers	Placenta Amnion	Placenta Amnion

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