Variant report

Variant	rs28531719
Chromosome Location	chr5:68792418-68792419
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68785265..68786814-chr5:68791120..68792647,2	K562	blood:
2	chr5:68708231..68714128-chr5:68786986..68792913,14	MCF-7	breast:
3	chr5:68791729..68794377-chr5:68827769..68829901,2	MCF-7	breast:
4	chr5:68790592..68792651-chr5:68799282..68801420,2	K562	blood:

Variant related genes	Relation type
ENSG00000197822	Chromatin interaction
ENSG00000152939	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10067619	0.80[ASN][1000 genomes]
rs28404493	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28407209	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28429739	0.81[ASN][1000 genomes]
rs28454073	0.87[EUR][1000 genomes]
rs28489109	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28513225	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28558979	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28562181	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28579732	0.83[ASN][1000 genomes]
rs28612873	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3733742	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3806856	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3846487	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55923832	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018410	chr5:68692244-68822384	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1023116	chr5:68744307-68867282	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1034024	chr5:68760271-69118123	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28531719	GUSBP3	cis	Whole Blood	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68790000-68792600	Weak transcription	HSMM	muscle
2	chr5:68790000-68798200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:68790200-68792600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:68790200-68795800	Weak transcription	Colonic Mucosa	Colon
5	chr5:68790200-68797400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:68790200-68797400	Weak transcription	HMEC	breast
7	chr5:68790200-68797400	Weak transcription	HUVEC	blood vessel
8	chr5:68790200-68824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:68790600-68792800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:68790600-68801600	Weak transcription	Gastric	stomach
11	chr5:68790800-68793200	Enhancers	Liver	Liver
12	chr5:68790800-68798600	Weak transcription	Lung	lung
13	chr5:68791000-68792600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:68791200-68792800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:68791200-68793200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:68791200-68798000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:68791400-68793600	Enhancers	Fetal Intestine Large	intestine
18	chr5:68791400-68798200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:68791600-68792600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:68791600-68792600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:68791600-68792600	Weak transcription	A549	lung
22	chr5:68791600-68792600	Weak transcription	HepG2	liver
23	chr5:68791600-68792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:68791600-68792800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr5:68791600-68795800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:68791600-68798400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:68791800-68792600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:68791800-68792800	Weak transcription	Stomach Mucosa	stomach
29	chr5:68791800-68792800	Weak transcription	GM12878-XiMat	blood
30	chr5:68791800-68793000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:68791800-68795000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:68792400-68792600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:68792400-68792800	Enhancers	NHLF	lung
34	chr5:68792400-68793000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:68792400-68793000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:68792400-68793000	Enhancers	Fetal Intestine Small	intestine
37	chr5:68792400-68793200	Enhancers	Fetal Heart	heart
38	chr5:68792400-68793400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:68792400-68793400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:68792400-68793600	Enhancers	Pancreas	Pancrea

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