Variant report

Variant	rs55923832
Chromosome Location	chr5:68814779-68814780
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68813539..68815320-chr5:68820921..68822712,2	MCF-7	breast:
2	chr5:68664276..68666679-chr5:68812958..68815555,2	MCF-7	breast:
3	chr5:68811437..68815245-chr5:68822688..68826346,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152942	Chromatin interaction
ENSG00000085231	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs256914	0.81[ASN][1000 genomes]
rs28404493	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28407209	0.87[AMR][1000 genomes]
rs28431145	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs28489109	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28513225	0.85[AMR][1000 genomes]
rs28531719	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28552895	0.86[ASN][1000 genomes]
rs28558979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28562181	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28612873	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28633210	0.86[ASN][1000 genomes]
rs28807720	0.87[ASN][1000 genomes]
rs3733742	0.84[AMR][1000 genomes]
rs3806856	0.85[AMR][1000 genomes]
rs3846487	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
4	esv1804444	chr5:68812530-68838432	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv1818827	chr5:68812530-68849594	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv1832055	chr5:68812530-68849594	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55923832	GUSBP3	cis	Whole Blood	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68790200-68824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:68799000-68823200	Weak transcription	Placenta	Placenta
3	chr5:68799400-68821800	Weak transcription	Fetal Stomach	stomach
4	chr5:68805600-68816400	Weak transcription	GM12878-XiMat	blood
5	chr5:68805600-68821600	Weak transcription	Lung	lung
6	chr5:68805600-68823400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:68805600-68826200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:68805600-68826600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:68806000-68824200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:68806400-68826400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:68806800-68816800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:68806800-68821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:68807000-68821400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:68807000-68821600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:68809200-68816400	Weak transcription	NHEK	skin
16	chr5:68809200-68817000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:68809600-68817200	Weak transcription	NHLF	lung
18	chr5:68809800-68816600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:68810400-68815200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:68810400-68815600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:68810400-68815600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:68810400-68821600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:68810400-68821800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:68810400-68823600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:68812200-68815200	Enhancers	Hela-S3	cervix
26	chr5:68812200-68818000	Enhancers	Stomach Mucosa	stomach
27	chr5:68812400-68814800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:68812400-68815600	Enhancers	Fetal Intestine Large	intestine
29	chr5:68812400-68816000	Enhancers	Liver	Liver
30	chr5:68812600-68815800	Enhancers	HepG2	liver
31	chr5:68812600-68818000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr5:68813000-68814800	Enhancers	Fetal Intestine Small	intestine
33	chr5:68813400-68815200	Enhancers	Duodenum Mucosa	Duodenum
34	chr5:68813400-68816600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:68813600-68814800	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr5:68813600-68815400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr5:68813800-68816800	Weak transcription	HMEC	breast
38	chr5:68814000-68816400	Weak transcription	NH-A	brain
39	chr5:68814000-68816800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:68814000-68823400	Weak transcription	Fetal Lung	lung
41	chr5:68814200-68815000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:68814200-68815800	Enhancers	Colonic Mucosa	Colon
43	chr5:68814200-68816000	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr5:68814200-68816600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:68814400-68816200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:68814400-68816200	Weak transcription	HUVEC	blood vessel
47	chr5:68814400-68816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:68814400-68817000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:68814400-68823600	Weak transcription	Small Intestine	intestine
50	chr5:68814600-68816400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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