Variant report

Variant	rs11180049
Chromosome Location	chr12:74786241-74786242
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	chr12:74780034..74781968-chr12:74784353..74786746,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1019690	0.91[ASN][1000 genomes]
rs1019692	0.91[ASN][1000 genomes]
rs1019693	0.91[ASN][1000 genomes]
rs1019694	0.91[ASN][1000 genomes]
rs10879749	0.91[ASN][1000 genomes]
rs10879759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10879779	0.80[ASN][1000 genomes]
rs11180015	0.91[ASN][1000 genomes]
rs11180027	0.93[ASN][1000 genomes]
rs11180036	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11180057	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11180063	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11608849	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11829422	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836857	0.82[ASN][1000 genomes]
rs12422910	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1346248	0.91[ASN][1000 genomes]
rs1365533	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1365534	0.91[ASN][1000 genomes]
rs1471296	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17113224	0.82[ASN][1000 genomes]
rs17113335	0.91[ASN][1000 genomes]
rs1820497	0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs1824540	0.84[ASN][1000 genomes]
rs1834669	0.88[ASN][1000 genomes]
rs2012003	0.91[ASN][1000 genomes]
rs2012005	0.91[ASN][1000 genomes]
rs2162395	0.91[ASN][1000 genomes]
rs2169290	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2278189	0.81[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs4883488	0.82[ASN][1000 genomes]
rs4883489	0.82[ASN][1000 genomes]
rs66472931	0.91[ASN][1000 genomes]
rs66504708	0.87[ASN][1000 genomes]
rs66512760	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs66514235	0.88[ASN][1000 genomes]
rs66661116	0.82[ASN][1000 genomes]
rs66671338	0.87[ASN][1000 genomes]
rs66756307	0.91[ASN][1000 genomes]
rs66955885	0.82[ASN][1000 genomes]
rs67027369	0.85[ASN][1000 genomes]
rs67249120	0.91[ASN][1000 genomes]
rs67283194	0.82[ASN][1000 genomes]
rs67436776	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67452475	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67619450	0.91[ASN][1000 genomes]
rs67773463	0.91[ASN][1000 genomes]
rs68026423	0.91[ASN][1000 genomes]
rs68173977	0.91[ASN][1000 genomes]
rs72652864	0.91[ASN][1000 genomes]
rs72652865	0.91[ASN][1000 genomes]
rs7295476	0.88[ASN][1000 genomes]
rs7299438	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305709	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7398187	0.93[ASN][1000 genomes]
rs965780	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv428595	chr12:74679884-74858160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1052996	chr12:74710909-74891621	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv541540	chr12:74710909-74891621	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv559413	chr12:74754590-74924819	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr12:74784600-74786600	Weak transcription	A549	lung

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