Variant report

Variant	rs66504708
Chromosome Location	chr12:74667066-74667067
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	chr12:74666319..74668697-chr12:74685247..74688031,2	K562	blood:

Variant related genes	Relation type
ENSG00000257364	Chromatin interaction
ENSG00000251138	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1019690	0.95[ASN][1000 genomes]
rs1019692	0.95[ASN][1000 genomes]
rs1019693	0.95[ASN][1000 genomes]
rs1019694	0.95[ASN][1000 genomes]
rs10879749	0.95[ASN][1000 genomes]
rs10879759	0.87[ASN][1000 genomes]
rs11180007	0.83[ASN][1000 genomes]
rs11180015	0.95[ASN][1000 genomes]
rs11180027	0.94[ASN][1000 genomes]
rs11180036	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11180049	0.87[ASN][1000 genomes]
rs11180057	0.81[ASN][1000 genomes]
rs11180063	0.81[ASN][1000 genomes]
rs11829422	0.87[ASN][1000 genomes]
rs11836857	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12422910	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1346248	0.95[ASN][1000 genomes]
rs1365533	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1365534	0.95[ASN][1000 genomes]
rs1471296	0.81[ASN][1000 genomes]
rs17113224	0.95[ASN][1000 genomes]
rs17113335	0.95[ASN][1000 genomes]
rs1820497	0.98[ASN][1000 genomes]
rs1834669	0.98[ASN][1000 genomes]
rs2012003	0.95[ASN][1000 genomes]
rs2012005	0.95[ASN][1000 genomes]
rs2162395	0.95[ASN][1000 genomes]
rs2169290	0.81[ASN][1000 genomes]
rs2278189	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2364868	0.87[EUR][1000 genomes]
rs4883488	0.95[ASN][1000 genomes]
rs4883489	0.95[ASN][1000 genomes]
rs66472931	0.95[ASN][1000 genomes]
rs66512760	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66514235	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66661116	0.95[ASN][1000 genomes]
rs66756307	0.95[ASN][1000 genomes]
rs66955885	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs67027369	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67249120	0.95[ASN][1000 genomes]
rs67283194	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67436776	0.81[ASN][1000 genomes]
rs67452475	0.87[ASN][1000 genomes]
rs67619450	0.95[ASN][1000 genomes]
rs67630387	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67773463	0.95[ASN][1000 genomes]
rs68026423	0.95[ASN][1000 genomes]
rs68173977	0.95[ASN][1000 genomes]
rs72652864	0.95[ASN][1000 genomes]
rs72652865	0.95[ASN][1000 genomes]
rs7295476	0.98[ASN][1000 genomes]
rs7299438	0.87[ASN][1000 genomes]
rs7305709	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73182736	0.82[EUR][1000 genomes]
rs73182748	0.87[EUR][1000 genomes]
rs7398187	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv559395	chr12:74576059-74676381	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv559396	chr12:74586210-74679054	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv520257	chr12:74590356-74680999	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1048747	chr12:74597411-74674733	Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1053421	chr12:74599663-74674733	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1047574	chr12:74599663-74687663	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv469472	chr12:74651797-74690292	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv559411	chr12:74651797-74690292	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv899290	chr12:74666737-74729489	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv899291	chr12:74666737-74740958	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr12:74636600-74678000	Weak transcription	K562	blood

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