Variant report

Variant	rs4472748
Chromosome Location	chr1:155328131-155328132
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10752610	1.00[ASW][hapmap];0.83[LWK][hapmap];0.96[YRI][hapmap]
rs10908468	1.00[ASW][hapmap];0.96[YRI][hapmap]
rs11264359	0.96[YRI][hapmap]
rs11465207	1.00[CHB][hapmap]
rs12064598	1.00[CEU][hapmap]
rs12069996	1.00[CEU][hapmap]
rs1611770	1.00[JPT][hapmap]
rs1611772	1.00[CHB][hapmap]
rs406141	1.00[CEU][hapmap]
rs4971051	1.00[ASW][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4971075	1.00[ASW][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs7340058	1.00[ASW][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
4	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4472748	LAMTOR2	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155296000-155334400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:155296200-155349400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:155296600-155348200	Strong transcription	Fetal Stomach	stomach
4	chr1:155296800-155330000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:155297000-155330800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:155297800-155357400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:155299600-155330200	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr1:155299600-155341200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:155299600-155353600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:155301200-155332200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:155301800-155334800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:155302400-155341200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:155302600-155330800	Strong transcription	Placenta	Placenta
14	chr1:155303000-155330400	Strong transcription	Stomach Smooth Muscle	stomach
15	chr1:155303000-155331200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr1:155303000-155332200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:155303000-155334400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:155303000-155341200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:155303000-155352800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:155303200-155330800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:155303200-155341000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:155303400-155332600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:155303600-155332200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:155304200-155332000	Strong transcription	Dnd41	blood
25	chr1:155304400-155330200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:155304400-155330800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr1:155304400-155331000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:155304400-155337200	Strong transcription	Fetal Muscle Leg	muscle
29	chr1:155304600-155330200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:155304600-155331800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:155304600-155332000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr1:155306000-155336800	Strong transcription	Adipose Nuclei	Adipose
33	chr1:155306000-155348200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:155306200-155330200	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:155306200-155330800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr1:155306200-155341200	Strong transcription	Liver	Liver
37	chr1:155306200-155375400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:155306400-155329800	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr1:155306400-155330800	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr1:155306400-155334600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:155306600-155332000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:155306600-155332200	Strong transcription	Fetal Intestine Large	intestine
43	chr1:155306600-155332600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:155306800-155331800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:155309800-155329000	Weak transcription	Stomach Mucosa	stomach
46	chr1:155310000-155347800	Strong transcription	Fetal Intestine Small	intestine
47	chr1:155311200-155330800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:155311400-155328200	Strong transcription	Primary hematopoietic stem cells	blood
49	chr1:155311600-155330200	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:155312400-155407400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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