Variant report

Variant	rs72758412
Chromosome Location	chr1:212869810-212869811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212867807..212869816-chr1:212870815..212873340,2	K562	blood:
2	chr1:212862725..212865648-chr1:212866510..212870807,5	K562	blood:
3	chr1:212867492..212870204-chr1:212923902..212926371,2	K562	blood:
4	chr1:212866207..212868017-chr1:212869648..212871238,2	K562	blood:
5	chr1:212790623..212792984-chr1:212868720..212871202,2	K562	blood:
6	chr1:212781063..212784148-chr1:212866766..212870183,3	K562	blood:
7	chr1:212860743..212863058-chr1:212869735..212872128,3	K562	blood:

No data

No data

No data

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12068304	0.84[EUR][1000 genomes]
rs12726783	0.84[ASN][1000 genomes]
rs12754070	0.95[ASN][1000 genomes]
rs17019553	0.84[ASN][1000 genomes]
rs17019556	0.84[ASN][1000 genomes]
rs2884573	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35027464	0.95[ASN][1000 genomes]
rs4026627	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55846918	0.84[ASN][1000 genomes]
rs56283090	0.84[ASN][1000 genomes]
rs59691875	0.95[ASN][1000 genomes]
rs59746440	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59877390	0.95[ASN][1000 genomes]
rs72756401	0.84[ASN][1000 genomes]
rs882410	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs906363	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9658807	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv1829918	chr1:212828460-212874731	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212857200-212871600	Weak transcription	Dnd41	blood
2	chr1:212858600-212872200	Weak transcription	Gastric	stomach
3	chr1:212858800-212872200	Weak transcription	Aorta	Aorta
4	chr1:212862600-212871600	Weak transcription	NHLF	lung
5	chr1:212863400-212872200	Weak transcription	Spleen	Spleen
6	chr1:212865600-212871000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:212866600-212870000	Weak transcription	GM12878-XiMat	blood
8	chr1:212866800-212871800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:212867000-212872200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:212867200-212871800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:212869400-212872000	Weak transcription	Right Atrium	heart
12	chr1:212869600-212870400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
13	chr1:212869600-212870600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:212869800-212871000	Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr1:212869800-212871000	Bivalent Enhancer	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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