Variant report

Variant	rs11977460
Chromosome Location	chr7:121156688-121156689
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:121123015..121125228-chr7:121156391..121158101,2	MCF-7	breast:
2	chr7:121156175..121158638-chr7:121159425..121162281,4	K562	blood:
3	chr7:121035120..121037894-chr7:121156429..121159236,2	K562	blood:
4	chr7:121154838..121156881-chr7:121159620..121161835,2	K562	blood:

Variant related genes	Relation type
ENSG00000196937	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10234763	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10488048	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11768475	0.82[ASN][1000 genomes]
rs11770272	0.83[ASN][1000 genomes]
rs11978831	0.87[ASN][1000 genomes]
rs11979236	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1406192	0.87[ASN][1000 genomes]
rs1406193	0.87[ASN][1000 genomes]
rs17132763	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.85[MKK][hapmap]
rs17143495	0.82[ASN][1000 genomes]
rs17143500	0.82[ASN][1000 genomes]
rs1830308	0.87[ASN][1000 genomes]
rs2402580	0.81[ASN][1000 genomes]
rs56263246	0.87[ASN][1000 genomes]
rs58130666	0.83[ASN][1000 genomes]
rs58302670	0.85[ASN][1000 genomes]
rs59102661	0.82[ASN][1000 genomes]
rs59320957	0.85[ASN][1000 genomes]
rs6948165	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952513	0.82[ASN][1000 genomes]
rs6964469	0.84[ASN][1000 genomes]
rs6970940	0.84[ASN][1000 genomes]
rs73225223	0.85[ASN][1000 genomes]
rs73225231	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225236	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73717388	0.84[ASN][1000 genomes]
rs73717390	0.89[ASN][1000 genomes]
rs73717391	0.89[ASN][1000 genomes]
rs73717392	0.83[ASN][1000 genomes]
rs73717393	0.87[ASN][1000 genomes]
rs73717402	0.82[ASN][1000 genomes]
rs73719803	0.82[ASN][1000 genomes]
rs73719804	0.82[ASN][1000 genomes]
rs73719806	0.84[ASN][1000 genomes]
rs73719807	0.84[ASN][1000 genomes]
rs73719811	0.82[ASN][1000 genomes]
rs7455326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792771	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv608333	chr7:121132213-121379616	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11977460	NDUFA5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121152600-121161600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:121155000-121157200	Enhancers	Colon Smooth Muscle	Colon
3	chr7:121155200-121157000	Enhancers	HMEC	breast
4	chr7:121156200-121157000	Enhancers	Rectal Smooth Muscle	rectum
5	chr7:121156400-121157000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr7:121156400-121159800	Weak transcription	Adipose Nuclei	Adipose
7	chr7:121156600-121157800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:121156600-121158200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:121156600-121159600	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links