Variant report

Variant	rs6952547
Chromosome Location	chr7:12288155-12288156
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12254720..12256765-chr7:12287281..12288945,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10488200	1.00[EUR][1000 genomes]
rs10488201	1.00[EUR][1000 genomes]
rs10488202	1.00[EUR][1000 genomes]
rs10488203	1.00[EUR][1000 genomes]
rs10488205	1.00[EUR][1000 genomes]
rs17165572	1.00[EUR][1000 genomes]
rs17165583	1.00[EUR][1000 genomes]
rs17165585	1.00[EUR][1000 genomes]
rs17165586	1.00[EUR][1000 genomes]
rs17165587	1.00[EUR][1000 genomes]
rs17165589	1.00[EUR][1000 genomes]
rs17165590	1.00[EUR][1000 genomes]
rs17165591	1.00[EUR][1000 genomes]
rs17165602	1.00[EUR][1000 genomes]
rs17165605	1.00[EUR][1000 genomes]
rs17165607	1.00[EUR][1000 genomes]
rs17165608	1.00[EUR][1000 genomes]
rs17165609	1.00[EUR][1000 genomes]
rs17165617	1.00[EUR][1000 genomes]
rs17165620	1.00[EUR][1000 genomes]
rs17165621	1.00[EUR][1000 genomes]
rs17165622	1.00[EUR][1000 genomes]
rs17165647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17165810	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17165812	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2110714	1.00[EUR][1000 genomes]
rs2192835	1.00[EUR][1000 genomes]
rs4721034	1.00[EUR][1000 genomes]
rs60576080	1.00[EUR][1000 genomes]
rs60894519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61400397	1.00[EUR][1000 genomes]
rs6973077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73287176	1.00[EUR][1000 genomes]
rs73288387	1.00[EUR][1000 genomes]
rs73299037	1.00[EUR][1000 genomes]
rs73301046	1.00[EUR][1000 genomes]
rs73678628	1.00[EUR][1000 genomes]
rs73678641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7777276	1.00[EUR][1000 genomes]
rs7785068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7790766	1.00[EUR][1000 genomes]
rs7791073	1.00[EUR][1000 genomes]
rs7791085	1.00[EUR][1000 genomes]
rs7807215	1.00[EUR][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	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	nsv1033704	chr7:12286225-12355773	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12271800-12289000	Weak transcription	HSMM	muscle
2	chr7:12280000-12295000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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