Variant report

Variant	rs72489180
Chromosome Location	chr19:55951237-55951238
allele	A/G
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:55951074..55953797-chr19:55995529..55999073,3	K562	blood:
2	chr19:55791270..55793357-chr19:55950803..55953451,2	K562	blood:
3	chr19:55949680..55954432-chr19:55969839..55974899,6	K562	blood:
4	chr19:55917216..55921744-chr19:55947360..55952144,9	K562	blood:
5	chr19:55626730..55629405-chr19:55950421..55953047,2	K562	blood:
6	chr19:55692071..55693997-chr19:55950294..55952770,2	K562	blood:
7	chr19:55949396..55951521-chr19:56154202..56156198,2	MCF-7	breast:
8	chr19:55949225..55951962-chr19:55952150..55955419,4	MCF-7	breast:
9	chr19:55917469..55921438-chr19:55945356..55952187,11	K562	blood:
10	chr19:55727003..55728897-chr19:55950447..55953853,4	K562	blood:
11	chr19:55947182..55950388-chr19:55950441..55953664,3	K562	blood:
12	chr19:55789771..55793296-chr19:55950803..55954133,4	K562	blood:
13	chr19:55950796..55953996-chr19:55973168..55975458,3	K562	blood:
14	chr19:55893657..55895479-chr19:55950087..55951998,2	MCF-7	breast:
15	chr19:55950973..55953730-chr19:56134853..56137596,2	K562	blood:
16	chr19:55950723..55953824-chr19:55986697..55989266,3	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000108106	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000179922	Chromatin interaction
ENSG00000187902	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000090971	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000063241	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11668893	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1457109	0.85[EUR][1000 genomes]
rs1531215	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2384684	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4075908	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4133107	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4801608	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
2	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
4	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	nsv912477	chr19:55936376-55972950	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv912478	chr19:55936376-56045522	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv912479	chr19:55942456-55969746	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55941200-55953400	Weak transcription	Right Atrium	heart
2	chr19:55944200-55952400	Weak transcription	Brain Angular Gyrus	brain
3	chr19:55946800-55951600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:55949200-55951800	Weak transcription	A549	lung
5	chr19:55950800-55951600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr19:55950800-55951800	Weak transcription	Pancreas	Pancrea
7	chr19:55950800-55952000	Strong transcription	Brain Inferior Temporal Lobe	brain
8	chr19:55951000-55951800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:55951200-55951600	Enhancers	K562	blood

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

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