Variant report

Variant	rs7612959
Chromosome Location	chr3:151197362-151197363
allele	C/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	EP300	chr3:151197301-151197511	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:151194512..151197390-chr3:151199277..151201017,2	K562	blood:
2	chr3:151194378..151197390-chr3:151198956..151201017,3	K562	blood:

Variant related genes	Relation type
MRPL42P6	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10935855	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11918086	0.87[EUR][1000 genomes]
rs11918597	0.83[EUR][1000 genomes]
rs11919438	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11920961	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11925669	0.85[EUR][1000 genomes]
rs12152213	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12185992	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12490197	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12492469	0.83[EUR][1000 genomes]
rs28844906	0.81[ASN][1000 genomes]
rs34819348	0.83[EUR][1000 genomes]
rs4270482	0.88[ASN][1000 genomes]
rs4289322	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4312631	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4343605	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4546128	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4564957	0.81[EUR][1000 genomes]
rs4632523	0.83[ASN][1000 genomes]
rs55649933	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55650514	0.86[EUR][1000 genomes]
rs55897734	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56164325	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56168503	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56397550	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56407542	0.81[EUR][1000 genomes]
rs56997469	0.90[EUR][1000 genomes]
rs62281718	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62284469	0.84[EUR][1000 genomes]
rs6440760	0.82[EUR][1000 genomes]
rs6440762	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs66786641	0.85[EUR][1000 genomes]
rs6766991	0.84[EUR][1000 genomes]
rs6767020	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6776211	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67817972	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6802648	0.84[EUR][1000 genomes]
rs73162221	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73162245	0.83[EUR][1000 genomes]
rs7427384	0.82[EUR][1000 genomes]
rs7622119	0.82[EUR][1000 genomes]
rs7632288	0.82[ASN][1000 genomes]
rs7632849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv829757	chr3:151044880-151226442	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1000355	chr3:151108859-151243835	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv995048	chr3:151114074-151560019	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv877649	chr3:151147968-151236562	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv877650	chr3:151174010-151314449	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv963536	chr3:151191085-151212472	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv819466	chr3:151196634-151219966	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151193800-151197600	Enhancers	Fetal Lung	lung
2	chr3:151195600-151198400	Enhancers	Fetal Stomach	stomach
3	chr3:151196400-151209000	Weak transcription	Ovary	ovary
4	chr3:151196600-151197600	Weak transcription	Colon Smooth Muscle	Colon

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