Variant report

Variant	rs419184
Chromosome Location	chr7:65512927-65512928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12666915	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs313812	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs365896	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs401176	0.81[AMR][1000 genomes]
rs420880	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs426438	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs444475	0.93[AMR][1000 genomes];0.96[ASN][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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1025494	chr7:65402301-65515606	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv538906	chr7:65402301-65515606	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs419184	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs419184	RP13-254B10.1	cis	Esophagus Mucosa	GTEx
rs419184	RP4-756H11.3	cis	Thyroid	GTEx
rs419184	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs419184	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs419184	RP4-756H11.3	cis	Nerve Tibial	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65509400-65515200	Weak transcription	HepG2	liver
2	chr7:65509800-65515800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:65509800-65517800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:65510800-65513400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:65511000-65513400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:65511400-65513400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:65511600-65513200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:65511600-65513400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:65511600-65513400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:65511600-65513400	Enhancers	NHDF-Ad	bronchial
11	chr7:65511600-65513600	Enhancers	HMEC	breast
12	chr7:65511800-65513000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:65511800-65513000	Enhancers	Osteobl	bone
14	chr7:65511800-65513200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:65511800-65513400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:65511800-65513400	Enhancers	NHEK	skin
17	chr7:65512000-65513200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:65512200-65513000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:65512200-65513000	Enhancers	HSMM	muscle
20	chr7:65512600-65513400	Enhancers	A549	lung
21	chr7:65512600-65513400	Enhancers	NH-A	brain
22	chr7:65512800-65513000	Flanking Active TSS	Hela-S3	cervix
23	chr7:65512800-65513400	Enhancers	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links