Variant report

Variant	rs34556973
Chromosome Location	chr8:105575896-105575897
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr8:105575755-105576020	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
NDUFA5P2	TF binding region

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10505062	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808392	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955357	0.80[EUR][1000 genomes]
rs11775166	0.83[EUR][1000 genomes]
rs11775331	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776230	0.86[EUR][1000 genomes]
rs11777528	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779233	0.82[ASN][1000 genomes]
rs11781863	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11782169	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11782366	0.82[AMR][1000 genomes]
rs11782889	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783063	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11783104	0.86[EUR][1000 genomes]
rs11783651	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784193	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785071	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11787202	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11989936	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11996303	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675273	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12675605	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12676758	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677524	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677793	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678904	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680652	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681898	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682004	0.82[ASN][1000 genomes]
rs13250948	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254058	0.86[AMR][1000 genomes]
rs13259268	0.83[EUR][1000 genomes]
rs13260018	0.86[AMR][1000 genomes]
rs13262954	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13265309	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13265320	0.86[AMR][1000 genomes]
rs13266739	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13268122	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13270263	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13279448	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16871500	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1837203	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2880074	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs33999897	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34008887	0.83[EUR][1000 genomes]
rs34145689	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34155810	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34155867	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34255383	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34299626	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34306176	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34340810	0.82[AMR][1000 genomes]
rs34435802	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34493777	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34690452	0.86[AMR][1000 genomes]
rs34695252	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34873943	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34881302	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34971735	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35013911	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35085883	0.82[AMR][1000 genomes]
rs35140929	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35258168	0.82[AMR][1000 genomes]
rs35263244	0.86[EUR][1000 genomes]
rs35349928	0.82[ASN][1000 genomes]
rs35379160	0.83[EUR][1000 genomes]
rs35394104	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35467682	0.83[EUR][1000 genomes]
rs35517423	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35635659	0.85[EUR][1000 genomes]
rs35649342	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35767747	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35795037	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4288345	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4552868	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4593510	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66494641	0.80[EUR][1000 genomes]
rs67089516	0.83[EUR][1000 genomes]
rs67555988	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984152	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6990243	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6994764	0.88[EUR][1000 genomes]
rs6995010	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7004507	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009594	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71520889	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71520891	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71520892	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71520893	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71520897	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71520900	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71520901	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs731126	0.83[EUR][1000 genomes]
rs7821181	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7824500	0.83[EUR][1000 genomes]
rs7834086	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842204	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7845137	0.90[EUR][1000 genomes];0.88[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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr8:105557400-105583800	Weak transcription	Thymus	Thymus
2	chr8:105566200-105587200	Weak transcription	Left Ventricle	heart
3	chr8:105566400-105583400	Weak transcription	Fetal Thymus	thymus
4	chr8:105571200-105580800	Weak transcription	NHDF-Ad	bronchial
5	chr8:105571800-105577000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:105574000-105579800	Weak transcription	Dnd41	blood
7	chr8:105574200-105577400	Weak transcription	K562	blood
8	chr8:105574400-105580800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:105575800-105576200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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