Variant report

Variant	rs72798713
Chromosome Location	chr2:32495827-32495828
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32494341..32496425-chr2:32501877..32504469,2	K562	blood:
2	chr2:32477535..32481572-chr2:32495523..32499136,3	K562	blood:
3	chr2:32494341..32496938-chr2:32500928..32503377,2	K562	blood:

Variant related genes	Relation type
ENSG00000119820	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55665681	1.00[ASN][1000 genomes]
rs57272947	1.00[ASN][1000 genomes]
rs59398369	1.00[ASN][1000 genomes]
rs59675286	1.00[ASN][1000 genomes]
rs60123798	1.00[ASN][1000 genomes]
rs61119054	1.00[ASN][1000 genomes]
rs61754192	1.00[ASN][1000 genomes]
rs6737177	1.00[ASN][1000 genomes]
rs6741519	1.00[ASN][1000 genomes]
rs6755587	1.00[ASN][1000 genomes]
rs72865559	1.00[ASN][1000 genomes]
rs72865564	1.00[ASN][1000 genomes]
rs72865565	1.00[ASN][1000 genomes]
rs72865567	1.00[ASN][1000 genomes]
rs72865568	1.00[ASN][1000 genomes]
rs72865574	1.00[ASN][1000 genomes]
rs72865577	1.00[ASN][1000 genomes]
rs72865581	1.00[ASN][1000 genomes]
rs72865589	1.00[ASN][1000 genomes]
rs72865596	1.00[ASN][1000 genomes]
rs72865597	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv1002120	chr2:32470452-32539443	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1004279	chr2:32470452-32543369	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32491000-32496000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:32492600-32502000	Weak transcription	Brain Anterior Caudate	brain
3	chr2:32492600-32502200	Weak transcription	Primary monocytes fromperipheralblood	blood

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