Variant report

Variant	rs5030966
Chromosome Location	chr6:27216786-27216787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:27216644-27224576	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27110323..27115581-chr6:27216717..27220429,5	K562	blood:
2	chr6:27111807..27118148-chr6:27215986..27222524,9	K562	blood:

Variant related genes	Relation type
PRSS16	TF binding region
ENSG00000197903	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000184825	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs16895205	1.00[EUR][1000 genomes]
rs16899633	1.00[EUR][1000 genomes]
rs16899664	1.00[EUR][1000 genomes]
rs16899778	1.00[EUR][1000 genomes]
rs16899794	1.00[EUR][1000 genomes]
rs16899861	1.00[EUR][1000 genomes]
rs56141585	1.00[EUR][1000 genomes]
rs56773753	1.00[EUR][1000 genomes]
rs56980568	1.00[EUR][1000 genomes]
rs56982870	1.00[EUR][1000 genomes]
rs57123722	1.00[EUR][1000 genomes]
rs57349601	1.00[EUR][1000 genomes]
rs57509377	1.00[EUR][1000 genomes]
rs58669069	1.00[EUR][1000 genomes]
rs58685987	1.00[EUR][1000 genomes]
rs58942357	1.00[EUR][1000 genomes]
rs59659183	1.00[EUR][1000 genomes]
rs59813908	1.00[EUR][1000 genomes]
rs59886985	1.00[EUR][1000 genomes]
rs61137579	1.00[EUR][1000 genomes]
rs61206558	1.00[EUR][1000 genomes]
rs61482673	1.00[EUR][1000 genomes]
rs61483696	1.00[EUR][1000 genomes]
rs61742445	1.00[EUR][1000 genomes]
rs73738714	1.00[EUR][1000 genomes]
rs73738743	1.00[EUR][1000 genomes]
rs73738764	1.00[EUR][1000 genomes]
rs73738772	1.00[EUR][1000 genomes]
rs73738775	1.00[EUR][1000 genomes]
rs73738795	1.00[EUR][1000 genomes]
rs73738796	1.00[EUR][1000 genomes]
rs73738798	1.00[EUR][1000 genomes]
rs73738799	1.00[EUR][1000 genomes]
rs73738802	1.00[EUR][1000 genomes]
rs73739596	1.00[EUR][1000 genomes]
rs73739597	1.00[EUR][1000 genomes]
rs73740430	1.00[EUR][1000 genomes]
rs73741704	1.00[EUR][1000 genomes]
rs73741705	1.00[EUR][1000 genomes]
rs73741706	1.00[EUR][1000 genomes]
rs73741716	1.00[EUR][1000 genomes]
rs766093	1.00[EUR][1000 genomes]
rs7744655	1.00[EUR][1000 genomes]
rs7750919	1.00[EUR][1000 genomes]
rs7751102	1.00[EUR][1000 genomes]
rs7758568	1.00[EUR][1000 genomes]
rs7765353	1.00[EUR][1000 genomes]
rs7768826	1.00[EUR][1000 genomes]
rs7773166	1.00[EUR][1000 genomes]
rs7775305	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883505	chr6:27210614-27300580	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27215600-27218800	Bivalent/Poised TSS	Fetal Thymus	thymus
2	chr6:27216000-27218200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:27216200-27217200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:27216200-27217600	Weak transcription	K562	blood

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