Variant report

Variant	rs265425
Chromosome Location	chr5:114554974-114554975
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs117060	0.89[CHB][hapmap]
rs155414	1.00[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs155573	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs169088	1.00[CEU][hapmap];0.88[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs185566	0.88[CHD][hapmap]
rs190561	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2053697	0.89[CHD][hapmap];0.98[ASN][1000 genomes]
rs265412	0.85[CHD][hapmap]
rs265418	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs265419	0.88[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs265420	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs265421	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs265424	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs265430	1.00[ASW][hapmap];0.96[CEU][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs265435	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs265436	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs265437	0.88[CEU][hapmap]
rs265438	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs265439	1.00[CEU][hapmap];0.88[JPT][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs265442	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.94[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs267286	0.88[CHD][hapmap]
rs267295	0.89[CHB][hapmap];0.92[CHD][hapmap]
rs267297	0.89[CHD][hapmap];0.86[ASN][1000 genomes]
rs267298	0.89[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs267299	0.89[CHB][hapmap]
rs267300	0.89[CHB][hapmap];0.92[CHD][hapmap]
rs267301	0.89[CHB][hapmap]
rs267302	0.88[CHB][hapmap]
rs267303	1.00[ASW][hapmap];0.96[CEU][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs267304	1.00[ASW][hapmap];0.87[CEU][hapmap];0.89[CHB][hapmap];0.96[CHD][hapmap];0.81[MKK][hapmap];0.89[TSI][hapmap];0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs267307	0.89[CHB][hapmap];0.92[CHD][hapmap]
rs3100784	0.89[CHB][hapmap];0.92[CHD][hapmap]
rs3111172	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1029371	chr5:114541428-114590891	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs265425	PGGT1B	cis	uninvolved skin	skin_eQTL
rs265425	PGGT1B	cis	lesional skin	skin_eQTL
rs265425	PGGT1B	cis	normal skin	skin_eQTL
rs265425	PGGT1B	Cis_1M	lymphoblastoid	RTeQTL
rs265425	PGGT1B	cis	multi-tissue	Pritchard

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114523400-114576200	Weak transcription	Psoas Muscle	Psoas
2	chr5:114528000-114563000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:114529200-114562600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:114530200-114562600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:114530200-114562600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:114530600-114594400	Weak transcription	Pancreas	Pancrea
7	chr5:114530800-114565200	Weak transcription	NHDF-Ad	bronchial
8	chr5:114531000-114558800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:114536000-114556000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:114538400-114567000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:114538400-114572000	Weak transcription	Lung	lung
12	chr5:114538600-114555200	Weak transcription	Placenta	Placenta
13	chr5:114539200-114580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:114539800-114566000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:114540800-114567600	Weak transcription	Hela-S3	cervix
16	chr5:114541000-114562000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr5:114541800-114573400	Weak transcription	NHLF	lung
18	chr5:114542000-114575800	Weak transcription	Small Intestine	intestine
19	chr5:114543600-114558800	Weak transcription	NH-A	brain
20	chr5:114543600-114562400	Weak transcription	HUVEC	blood vessel
21	chr5:114543800-114562800	Weak transcription	Colon Smooth Muscle	Colon
22	chr5:114543800-114565400	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:114543800-114577800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:114545400-114562400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:114545400-114563200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:114545600-114555400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:114546000-114562600	Weak transcription	GM12878-XiMat	blood
28	chr5:114546000-114563000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:114546600-114556600	Weak transcription	HepG2	liver
30	chr5:114546600-114560800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:114546800-114575600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:114546800-114578000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr5:114547600-114563800	Weak transcription	Thymus	Thymus
34	chr5:114547600-114577600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr5:114547800-114559000	Weak transcription	Spleen	Spleen
36	chr5:114547800-114578400	Weak transcription	Esophagus	oesophagus
37	chr5:114547800-114596600	Weak transcription	Brain Germinal Matrix	brain
38	chr5:114548000-114556000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr5:114548400-114556000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:114548400-114596800	Weak transcription	K562	blood
41	chr5:114548600-114562400	Weak transcription	Fetal Kidney	kidney
42	chr5:114548600-114563000	Weak transcription	Colonic Mucosa	Colon
43	chr5:114548800-114575400	Weak transcription	Brain Substantia Nigra	brain
44	chr5:114549400-114562800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:114549400-114597200	Weak transcription	Aorta	Aorta
46	chr5:114549600-114555800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr5:114549600-114562000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:114549600-114562800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:114549600-114563000	Weak transcription	Ovary	ovary
50	chr5:114549600-114564600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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