Variant report

Variant	rs7306375
Chromosome Location	chr12:74703806-74703807
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	chr12:74697259..74699490-chr12:74701397..74704397,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10785098	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10879746	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11179993	0.81[EUR][1000 genomes]
rs11180000	0.83[EUR][1000 genomes]
rs11180003	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11180004	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11180009	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12812724	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12822779	0.89[EUR][1000 genomes]
rs1987366	0.90[EUR][1000 genomes]
rs2886442	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs3096704	0.83[EUR][1000 genomes]
rs35718850	0.83[EUR][1000 genomes]
rs4601862	0.84[EUR][1000 genomes]
rs476891	0.82[EUR][1000 genomes]
rs510033	0.83[EUR][1000 genomes]
rs559813	0.82[EUR][1000 genomes]
rs56353885	0.90[EUR][1000 genomes]
rs635814	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs638404	0.82[EUR][1000 genomes]
rs6582212	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6582213	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs666685	0.83[EUR][1000 genomes]
rs7133578	0.82[EUR][1000 genomes]
rs7304698	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7953258	0.83[EUR][1000 genomes]
rs7957113	0.93[EUR][1000 genomes]
rs7973416	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	nsv1051702	chr12:74674733-74732069	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv469473	chr12:74676381-74712896	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv559412	chr12:74676381-74712896	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	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
8	nsv523765	chr12:74680999-74749476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7306375	KCNMB4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74703600-74704000	Enhancers	Fetal Heart	heart

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