Variant report

Variant	rs73290106
Chromosome Location	chr7:12454769-12454770
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	chr7:12451807..12454928-chr7:12455660..12459229,3	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10081298	1.00[EUR][1000 genomes]
rs10224863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10225555	1.00[EUR][1000 genomes]
rs10227025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10232185	1.00[EUR][1000 genomes]
rs10232837	1.00[EUR][1000 genomes]
rs10233068	1.00[EUR][1000 genomes]
rs10237637	1.00[EUR][1000 genomes]
rs10240596	1.00[EUR][1000 genomes]
rs10242038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10245022	1.00[EUR][1000 genomes]
rs10245998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10246117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10246516	1.00[EUR][1000 genomes]
rs10250215	1.00[EUR][1000 genomes]
rs10250410	1.00[EUR][1000 genomes]
rs10250861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10250893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10251780	1.00[EUR][1000 genomes]
rs10253924	1.00[EUR][1000 genomes]
rs10255590	1.00[EUR][1000 genomes]
rs10259433	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10266459	1.00[EUR][1000 genomes]
rs10267494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10270541	1.00[EUR][1000 genomes]
rs10277600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10280210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10280738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13328318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17166002	1.00[EUR][1000 genomes]
rs28409186	1.00[EUR][1000 genomes]
rs28432320	1.00[EUR][1000 genomes]
rs28451348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28465410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28575127	1.00[EUR][1000 genomes]
rs28806867	1.00[EUR][1000 genomes]
rs56990442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57259822	1.00[EUR][1000 genomes]
rs58059818	1.00[EUR][1000 genomes]
rs58818488	1.00[EUR][1000 genomes]
rs59769625	1.00[EUR][1000 genomes]
rs61411483	1.00[EUR][1000 genomes]
rs6947477	1.00[EUR][1000 genomes]
rs6947818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6968985	1.00[EUR][1000 genomes]
rs6977974	1.00[EUR][1000 genomes]
rs6978326	1.00[EUR][1000 genomes]
rs73288165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288192	1.00[EUR][1000 genomes]
rs73288195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290105	1.00[EUR][1000 genomes]
rs73290188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290454	1.00[EUR][1000 genomes]
rs73296310	1.00[EUR][1000 genomes]
rs73298535	1.00[EUR][1000 genomes]
rs73300543	1.00[EUR][1000 genomes]
rs73302462	1.00[EUR][1000 genomes]
rs73306910	1.00[EUR][1000 genomes]
rs73679942	1.00[EUR][1000 genomes]
rs7777458	1.00[EUR][1000 genomes]
rs7789032	1.00[EUR][1000 genomes]
rs7791110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7809959	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv464373	chr7:12406826-12536336	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv606224	chr7:12406826-12536336	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv887635	chr7:12410112-12474635	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv887636	chr7:12424405-12498138	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv887637	chr7:12424405-12508894	Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv887638	chr7:12424405-12519212	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv464375	chr7:12428803-12505373	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv606226	chr7:12428803-12505373	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv464376	chr7:12429488-12526282	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv606227	chr7:12429488-12526282	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
15	nsv516511	chr7:12439672-12479584	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv887639	chr7:12448482-12488535	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 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	chr7:12453400-12461600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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