Variant report

Variant	rs11050645
Chromosome Location	chr12:30243631-30243632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10771623	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10771626	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10843597	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10843598	0.85[ASN][1000 genomes]
rs10843601	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050626	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11050634	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12299867	0.82[EUR][1000 genomes]
rs9645747	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2760246	chr12:30235279-30244326	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv2760866	chr12:30235279-30244780	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv3525816	chr12:30236535-30244533	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv973986	chr12:30237049-30243977	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
9	esv3485162	chr12:30237112-30243673	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
10	nsv8932	chr12:30237115-30243678	Active TSS Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
11	esv3382930	chr12:30237138-30243655	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
12	esv3485140	chr12:30237163-30243636	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
13	esv3485151	chr12:30237168-30243639	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
14	nsv557992	chr12:30237344-30243631	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
15	esv3584651	chr12:30237497-30243933	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
16	nsv442641	chr12:30237501-30243933	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
17	esv3500474	chr12:30237685-30244383	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
18	esv3500485	chr12:30237685-30244383	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
19	esv33466	chr12:30240075-30246179	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
20	nsv528183	chr12:30240765-30245104	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30243400-30243800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr12:30243600-30244200	Weak transcription	Stomach Smooth Muscle	stomach

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