Variant report

Variant	rs1913493
Chromosome Location	chr3:111585998-111585999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10212121	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs10804493	0.84[EUR][1000 genomes]
rs10934114	1.00[CEU][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes]
rs11711475	0.92[CEU][hapmap];0.96[EUR][1000 genomes]
rs12490718	1.00[CEU][hapmap];0.85[TSI][hapmap];0.95[EUR][1000 genomes]
rs12695246	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs1282931	0.88[CEU][hapmap];0.87[JPT][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs1282932	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1282970	1.00[CEU][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes]
rs13063024	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13063315	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13083516	0.94[EUR][1000 genomes]
rs13101043	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1913494	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1913495	0.87[JPT][hapmap]
rs3925080	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs3925081	1.00[CEU][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs4381907	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4383483	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4583615	0.91[EUR][1000 genomes]
rs4682318	0.87[AFR][1000 genomes]
rs7626131	0.91[EUR][1000 genomes]
rs7637689	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7638138	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs937553	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs937554	1.00[CEU][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes]
rs967011	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9827362	0.85[EUR][1000 genomes]
rs9846313	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9883806	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[EUR][1000 genomes];0.98[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	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1913493	PHLDB2	cis	lymphoblastoid	seeQTL

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111579800-111588400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:111579800-111589000	Weak transcription	Pancreas	Pancrea
3	chr3:111580000-111589200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:111581400-111586000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr3:111581400-111593800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:111582200-111586800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:111582200-111586800	Weak transcription	Placenta	Placenta
8	chr3:111582200-111593200	Weak transcription	Lung	lung
9	chr3:111583000-111587600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:111583600-111586000	Enhancers	Right Atrium	heart
11	chr3:111583800-111591200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:111584000-111586000	Enhancers	NH-A	brain
13	chr3:111584000-111587200	Enhancers	Right Ventricle	heart
14	chr3:111584400-111587000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:111584400-111587200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:111584400-111587600	Weak transcription	NHEK	skin
17	chr3:111584400-111587800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:111584400-111589200	Enhancers	Colon Smooth Muscle	Colon
19	chr3:111584400-111589800	Enhancers	Rectal Smooth Muscle	rectum
20	chr3:111584400-111591000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:111584600-111586800	Weak transcription	A549	lung
22	chr3:111584600-111587200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:111584600-111587600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:111584600-111587800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:111584600-111588000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:111584600-111588400	Weak transcription	Fetal Stomach	stomach
27	chr3:111584600-111588400	Weak transcription	HepG2	liver
28	chr3:111584600-111588400	Weak transcription	NHDF-Ad	bronchial
29	chr3:111584600-111588600	Weak transcription	Fetal Lung	lung
30	chr3:111584600-111588800	Weak transcription	Stomach Mucosa	stomach
31	chr3:111584600-111590800	Weak transcription	Fetal Kidney	kidney
32	chr3:111584600-111591000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr3:111584600-111593200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:111584600-111603400	Weak transcription	Fetal Intestine Large	intestine
35	chr3:111584800-111586000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:111584800-111586400	Enhancers	Fetal Heart	heart
37	chr3:111584800-111591200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:111585200-111586600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:111585200-111587600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:111585200-111588400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr3:111585200-111588400	Weak transcription	HMEC	breast
42	chr3:111585200-111589000	Weak transcription	NHLF	lung
43	chr3:111585200-111591200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr3:111585200-111591200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:111585200-111591200	Weak transcription	Fetal Muscle Leg	muscle
46	chr3:111585200-111591200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr3:111585200-111622000	Weak transcription	HSMMtube	muscle
48	chr3:111585400-111586600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:111585400-111586600	Weak transcription	Aorta	Aorta
50	chr3:111585400-111586600	Weak transcription	Gastric	stomach

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