Variant report

Variant	rs12367045
Chromosome Location	chr12:30308483-30308484
allele	A/G
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:21)

rs_ID	r²[population]
rs11050694	0.96[EUR][1000 genomes]
rs11050702	0.92[EUR][1000 genomes]
rs11050703	0.92[EUR][1000 genomes]
rs11050704	0.91[EUR][1000 genomes]
rs11050705	0.91[EUR][1000 genomes]
rs11836664	0.83[EUR][1000 genomes]
rs12313180	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12368455	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12368624	0.90[EUR][1000 genomes]
rs12371944	0.90[EUR][1000 genomes]
rs1485402	0.87[CEU][hapmap]
rs1485410	0.88[CEU][hapmap]
rs17457272	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1825524	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1968879	0.81[AMR][1000 genomes]
rs1973269	0.82[AMR][1000 genomes]
rs2351219	0.92[EUR][1000 genomes]
rs55974148	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60695156	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300499	0.81[AMR][1000 genomes]
rs9783442	0.89[AMR][1000 genomes];0.93[EUR][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	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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30307600-30309200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:30307800-30308600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:30307800-30309200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:30308000-30309000	Enhancers	Osteobl	bone
5	chr12:30308200-30309000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:30308400-30308800	Enhancers	HSMM	muscle
7	chr12:30308400-30309000	Enhancers	NHDF-Ad	bronchial

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