Variant report

Variant	rs11050694
Chromosome Location	chr12:30316204-30316205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30307525..30310508-chr12:30315898..30318662,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11050702	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11050703	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11050704	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11050705	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11836664	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12313180	0.84[EUR][1000 genomes]
rs12367045	0.96[EUR][1000 genomes]
rs12368455	0.89[EUR][1000 genomes]
rs12368624	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12371944	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17457272	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1825524	0.81[EUR][1000 genomes]
rs1968879	0.80[EUR][1000 genomes]
rs1973269	0.80[EUR][1000 genomes]
rs2351219	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3946543	0.80[EUR][1000 genomes]
rs55974148	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60695156	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7300499	0.80[EUR][1000 genomes]
rs9783442	0.97[EUR][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	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
2	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
3	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
4	nsv821695	chr12:30287314-30450174	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1050757	chr12:30288879-30329142	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1035561	chr12:30288879-30336486	Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv516421	chr12:30309076-30411299	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30315600-30316400	Enhancers	Brain Germinal Matrix	brain

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