Variant report

Variant	rs13228133
Chromosome Location	chr7:65355105-65355106
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs1039664	0.89[ASN][1000 genomes]
rs1061361	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1134256	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11538349	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1167613	0.86[ASN][1000 genomes]
rs1177514	0.89[ASN][1000 genomes]
rs12698508	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12698509	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12698511	0.86[ASN][1000 genomes]
rs13220979	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13226598	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13233662	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13236109	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13246608	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13247184	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1626926	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1701745	0.86[ASN][1000 genomes]
rs1701750	0.86[ASN][1000 genomes]
rs1701758	0.86[ASN][1000 genomes]
rs1701759	0.86[ASN][1000 genomes]
rs1715235	0.86[ASN][1000 genomes]
rs1723265	0.83[ASN][1000 genomes]
rs1723266	0.86[ASN][1000 genomes]
rs1723267	0.86[ASN][1000 genomes]
rs1723269	0.86[ASN][1000 genomes]
rs1723270	0.86[ASN][1000 genomes]
rs1723272	0.86[ASN][1000 genomes]
rs188765	0.85[ASN][1000 genomes]
rs1964692	0.89[ASN][1000 genomes]
rs2177703	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2456483	0.86[ASN][1000 genomes]
rs2462569	0.86[ASN][1000 genomes]
rs2658583	0.86[ASN][1000 genomes]
rs2949697	0.86[ASN][1000 genomes]
rs2961102	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3105600	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs313798	0.86[ASN][1000 genomes]
rs313799	0.86[ASN][1000 genomes]
rs313800	0.84[ASN][1000 genomes]
rs313807	0.85[ASN][1000 genomes]
rs313808	0.85[ASN][1000 genomes]
rs313809	0.85[ASN][1000 genomes]
rs313813	0.80[ASN][1000 genomes]
rs313814	0.82[ASN][1000 genomes]
rs34004500	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34136756	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34193460	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34529418	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34560516	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34577383	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34586068	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34628538	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34637256	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34804747	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34933526	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34970380	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34974928	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34983797	0.85[ASN][1000 genomes]
rs35046236	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35058610	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35087093	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35256305	0.84[EUR][1000 genomes]
rs35257008	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35260440	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35268390	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35268411	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35283677	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35310401	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35391607	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35396113	0.86[ASN][1000 genomes]
rs35421653	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35432774	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35480979	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35542501	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35663341	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35679560	0.86[ASN][1000 genomes]
rs35689884	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35820085	0.87[ASN][1000 genomes]
rs36004293	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36033484	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36068983	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36084489	0.89[ASN][1000 genomes]
rs3813708	0.82[EUR][1000 genomes]
rs392355	0.86[ASN][1000 genomes]
rs402418	0.82[ASN][1000 genomes]
rs427044	0.82[ASN][1000 genomes]
rs431168	0.81[ASN][1000 genomes]
rs431318	0.81[ASN][1000 genomes]
rs437889	0.82[ASN][1000 genomes]
rs448377	0.86[ASN][1000 genomes]
rs451396	0.86[ASN][1000 genomes]
rs55700941	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55876148	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55886244	0.89[ASN][1000 genomes]
rs55895244	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55909123	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56016656	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56133509	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56171161	0.91[ASN][1000 genomes]
rs56291018	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56955188	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56985706	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57057549	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57126451	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58062456	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58207111	0.86[ASN][1000 genomes]
rs58330502	0.91[ASN][1000 genomes]
rs59794892	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59820001	0.90[ASN][1000 genomes]
rs59966766	0.86[ASN][1000 genomes]
rs60683927	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67728539	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68189316	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6949812	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6970243	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs709607	0.89[ASN][1000 genomes]
rs71564939	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73142122	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73142137	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73142162	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73142166	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73148097	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73150014	0.89[ASN][1000 genomes]
rs73150016	0.89[ASN][1000 genomes]
rs7794661	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7795242	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7806717	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs781141	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs781142	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs781149	0.86[ASN][1000 genomes]
rs781150	0.86[ASN][1000 genomes]
rs781153	0.86[ASN][1000 genomes]
rs781154	0.86[ASN][1000 genomes]
rs781155	0.84[ASN][1000 genomes]
rs781156	0.86[ASN][1000 genomes]
rs781157	0.86[ASN][1000 genomes]
rs906134	0.89[ASN][1000 genomes]
rs937108	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	esv2759534	chr7:64551274-65373851	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv427788	chr7:64551274-65390424	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1029942	chr7:64679680-65371565	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv538903	chr7:64679680-65371565	Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1019667	chr7:64679680-65380603	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv2757227	chr7:64694241-65373851	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv1029800	chr7:65309327-65367692	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13228133	GUSB	cis	Whole Blood	GTEx
rs13228133	VKORC1L1	cis	Whole Blood	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65339200-65372200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:65339400-65356600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:65339400-65366200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr7:65339400-65366200	Weak transcription	Fetal Intestine Small	intestine
5	chr7:65339400-65371800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:65339600-65355400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:65339600-65355400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:65339600-65355800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:65339600-65356200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:65339600-65356200	Weak transcription	Primary T cells from cord blood	blood
11	chr7:65339600-65356200	Weak transcription	Fetal Thymus	thymus
12	chr7:65339600-65356600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:65339600-65356600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:65339600-65356800	Weak transcription	Ovary	ovary
15	chr7:65339600-65357000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:65339600-65357600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:65339600-65360000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr7:65339600-65364000	Weak transcription	Left Ventricle	heart
19	chr7:65339600-65366000	Weak transcription	NHEK	skin
20	chr7:65339600-65366200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:65339600-65366200	Weak transcription	Fetal Stomach	stomach
22	chr7:65339600-65366400	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:65339600-65366800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:65339600-65368600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:65339600-65370000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:65339600-65371600	Weak transcription	Thymus	Thymus
27	chr7:65339600-65381200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:65339600-65394400	Weak transcription	HMEC	breast
29	chr7:65340000-65355600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:65340000-65355600	Weak transcription	Dnd41	blood
31	chr7:65340000-65370200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr7:65341200-65355400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:65345200-65356400	Weak transcription	Primary B cells from cord blood	blood
34	chr7:65345200-65419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:65345800-65367600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:65347000-65359200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:65349400-65364000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:65349600-65356400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:65349600-65356400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:65349600-65356400	Weak transcription	K562	blood
41	chr7:65349600-65356800	Weak transcription	A549	lung
42	chr7:65349600-65367400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:65349600-65368400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:65350000-65356400	Weak transcription	Hela-S3	cervix
45	chr7:65350200-65355400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:65350200-65367200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:65351000-65355800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:65351600-65356400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:65351600-65356400	Weak transcription	HepG2	liver
50	chr7:65351600-65359200	Weak transcription	Rectal Smooth Muscle	rectum

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