Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193644387..193646892-chr1:193648522..193650062,2	K562	blood:

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

rs_ID	r²[population]
rs10754071	0.82[AFR][1000 genomes]
rs10801208	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10801211	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10801224	0.81[AFR][1000 genomes]
rs10801226	0.92[AFR][1000 genomes]
rs10921400	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12028044	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12044024	0.83[AFR][1000 genomes]
rs1410395	0.94[AFR][1000 genomes]
rs1410396	0.83[AFR][1000 genomes]
rs1410399	0.93[AFR][1000 genomes]
rs1410400	0.83[AFR][1000 genomes]
rs1410402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1578127	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16835709	0.81[ASN][1000 genomes]
rs2031831	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2370444	0.80[EUR][1000 genomes]
rs2370445	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34743399	0.94[AFR][1000 genomes]
rs34745330	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35091853	0.93[AFR][1000 genomes]
rs6671045	0.83[AFR][1000 genomes]
rs6683700	0.93[AFR][1000 genomes]
rs6686086	0.83[AFR][1000 genomes]
rs7547559	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7550917	0.83[AFR][1000 genomes]
rs927981	0.92[AFR][1000 genomes]
rs986765	0.94[AFR][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	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3372415	chr1:193612172-193988265	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv34989	chr1:193630577-193710196	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2756877	chr1:193631528-193710196	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2758986	chr1:193631528-193710196	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193643400-193647400	Enhancers	Hela-S3	cervix
2	chr1:193643800-193646200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:193644000-193646800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:193644000-193647800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:193644400-193645600	Weak transcription	NH-A	brain
6	chr1:193644400-193648800	Weak transcription	Small Intestine	intestine
7	chr1:193644800-193645400	Enhancers	Fetal Intestine Large	intestine
8	chr1:193645200-193646600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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