Variant report

Variant	rs267306
Chromosome Location	chr5:114593029-114593030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114592752..114595570-chr5:114596936..114601339,4	K562	blood:
2	chr5:114590810..114593401-chr5:114627414..114629564,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271797	Chromatin interaction
ENSG00000243304	Chromatin interaction
ENSG00000164219	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs117060	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs166459	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs185566	0.87[AMR][1000 genomes]
rs190561	0.82[ASN][1000 genomes]
rs2112360	0.85[AMR][1000 genomes]
rs2112361	0.85[AMR][1000 genomes]
rs2124396	0.89[AMR][1000 genomes]
rs2545430	0.85[AMR][1000 genomes]
rs265435	0.80[ASN][1000 genomes]
rs265438	0.80[ASN][1000 genomes]
rs267286	0.87[AMR][1000 genomes]
rs267287	0.87[AMR][1000 genomes]
rs267288	0.87[AMR][1000 genomes]
rs267290	0.89[AMR][1000 genomes]
rs267292	0.85[AMR][1000 genomes]
rs267295	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs267299	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs267300	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs267301	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs267302	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs267304	0.83[ASN][1000 genomes]
rs267307	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3100784	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830454	chr5:114453864-114607159	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs267306	PGGT1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114530600-114594400	Weak transcription	Pancreas	Pancrea
2	chr5:114547800-114596600	Weak transcription	Brain Germinal Matrix	brain
3	chr5:114548400-114596800	Weak transcription	K562	blood
4	chr5:114549400-114597200	Weak transcription	Aorta	Aorta
5	chr5:114563400-114597600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:114565200-114597400	Weak transcription	Colonic Mucosa	Colon
7	chr5:114575000-114597000	Weak transcription	Fetal Stomach	stomach
8	chr5:114575800-114597000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:114576000-114596800	Weak transcription	Fetal Kidney	kidney
10	chr5:114576000-114596800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:114576200-114596000	Weak transcription	Hela-S3	cervix
12	chr5:114576200-114596800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:114576400-114594400	Weak transcription	Lung	lung
14	chr5:114576600-114596200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:114576600-114596400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:114576600-114597000	Weak transcription	Brain Substantia Nigra	brain
17	chr5:114576800-114596000	Weak transcription	NHDF-Ad	bronchial
18	chr5:114576800-114596400	Weak transcription	Fetal Lung	lung
19	chr5:114576800-114597000	Weak transcription	Thymus	Thymus
20	chr5:114576800-114597400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:114577000-114596800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:114577000-114596800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:114577000-114597200	Weak transcription	Placenta	Placenta
24	chr5:114577200-114595400	Weak transcription	Dnd41	blood
25	chr5:114577200-114596800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr5:114577400-114596800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:114577600-114594400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:114577800-114594000	Weak transcription	Primary T cells from cord blood	blood
29	chr5:114579600-114593200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:114579600-114593400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:114579600-114593400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr5:114579600-114594000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:114579600-114594000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:114579600-114596000	Weak transcription	HSMM	muscle
35	chr5:114579600-114596600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:114579600-114597000	Weak transcription	Small Intestine	intestine
37	chr5:114579800-114593400	Weak transcription	Osteobl	bone
38	chr5:114579800-114594000	Weak transcription	NHLF	lung
39	chr5:114579800-114594200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:114579800-114597000	Weak transcription	Fetal Intestine Small	intestine
41	chr5:114579800-114597400	Weak transcription	Left Ventricle	heart
42	chr5:114582600-114594200	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:114584600-114594800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr5:114584600-114596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:114584600-114597000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr5:114584600-114597000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:114584600-114597000	Weak transcription	Fetal Intestine Large	intestine
48	chr5:114584600-114597000	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:114584600-114597200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:114585400-114594000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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