Variant report

Variant	rs10273712
Chromosome Location	chr7:85458197-85458198
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10235264	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238009	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238931	0.88[EUR][1000 genomes]
rs10247730	0.83[ASN][1000 genomes]
rs10252661	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259010	0.88[EUR][1000 genomes]
rs10265491	0.87[EUR][1000 genomes]
rs10269970	0.96[EUR][1000 genomes]
rs10273963	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277093	0.88[EUR][1000 genomes]
rs10277784	0.88[EUR][1000 genomes]
rs10278063	0.88[EUR][1000 genomes]
rs10278188	0.88[EUR][1000 genomes]
rs11773194	0.85[EUR][1000 genomes]
rs12155189	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28587803	0.96[EUR][1000 genomes]
rs28587900	0.87[EUR][1000 genomes]
rs28617708	0.83[ASN][1000 genomes]
rs28673862	0.83[ASN][1000 genomes]
rs28843683	0.83[ASN][1000 genomes]
rs28855172	0.83[ASN][1000 genomes]
rs57561737	0.83[ASN][1000 genomes]
rs61129190	0.88[EUR][1000 genomes]
rs6944065	0.88[EUR][1000 genomes]
rs6962030	0.89[EUR][1000 genomes]
rs73387717	0.83[ASN][1000 genomes]
rs73391999	0.88[EUR][1000 genomes]
rs73703975	0.83[ASN][1000 genomes]
rs73705889	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73705891	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9655936	0.83[ASN][1000 genomes]
rs9690404	0.87[EUR][1000 genomes]
rs9690964	0.88[EUR][1000 genomes]
rs986069	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888655	chr7:85178080-85566769	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv888661	chr7:85187214-85458197	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv888665	chr7:85194414-85582101	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv888670	chr7:85303815-85458197	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv888671	chr7:85343307-85570519	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv831052	chr7:85366532-85506903	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv607719	chr7:85381614-85516921	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv518741	chr7:85381614-85570519	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv888672	chr7:85383292-85532629	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv888673	chr7:85383292-85582101	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1019599	chr7:85403086-85501634	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1032422	chr7:85414954-85503415	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1029718	chr7:85414954-85503610	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2764037	chr7:85414954-85504801	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv2756000	chr7:85418831-85560269	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv525846	chr7:85419011-85489693	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv607720	chr7:85419011-85489693	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv428176	chr7:85447360-85646560	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10273712	PARD3	trans	lymphoblastoid	seeQTL
rs10273712	ACTN1	trans	lymphoblastoid	seeQTL
rs10273712	NTS	trans	lymphoblastoid	seeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85457800-85458200	Enhancers	Fetal Muscle Leg	muscle
2	chr7:85457800-85458200	Enhancers	A549	lung
3	chr7:85457800-85458600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:85457800-85458600	Enhancers	Fetal Stomach	stomach
5	chr7:85457800-85459000	Enhancers	Fetal Lung	lung
6	chr7:85457800-85460000	Enhancers	Fetal Heart	heart
7	chr7:85458000-85458600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:85458000-85458800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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