Variant report

Variant	rs72648554
Chromosome Location	chr4:78269513-78269514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78266632..78268344-chr4:78268869..78271315,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11930470	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11936421	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500776	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12501577	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12505837	0.87[AMR][1000 genomes]
rs12506515	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506585	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511631	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17002580	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1806738	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28477195	0.88[ASN][1000 genomes]
rs67295944	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72648556	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72648557	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72648559	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72648560	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72648563	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72648565	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72648566	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72648573	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72648578	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72648580	0.82[ASN][1000 genomes]
rs72648581	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72648583	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72648584	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72648585	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72648586	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72650413	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006017	chr4:78139780-78312974	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1002683	chr4:78170317-78281331	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1010450	chr4:78182037-78317840	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1004824	chr4:78188691-78312974	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1000447	chr4:78191608-78291173	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3468255	chr4:78237484-78277631	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv5935	chr4:78237568-78277734	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3468256	chr4:78237627-78277552	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1845782	chr4:78237955-78321598	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv829974	chr4:78240718-78415642	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3465517	chr4:78269181-78269834	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3525427	chr4:78269225-78269805	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3525426	chr4:78269233-78269768	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv471765	chr4:78269242-78269775	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3465516	chr4:78269256-78269755	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3525428	chr4:78269262-78269789	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv822622	chr4:78269291-78269801	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3465515	chr4:78269309-78269730	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3450040	chr4:78269319-78269728	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3465518	chr4:78269323-78269726	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3525429	chr4:78269323-78269726	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78265400-78270200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:78266200-78270000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:78266600-78269800	Weak transcription	HMEC	breast
4	chr4:78267400-78269800	Enhancers	Fetal Intestine Small	intestine
5	chr4:78267400-78270000	Enhancers	Stomach Mucosa	stomach
6	chr4:78267400-78270200	Enhancers	Fetal Intestine Large	intestine
7	chr4:78269200-78270200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:78269400-78271800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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