Variant report

Variant	rs2239532
Chromosome Location	chr7:124405676-124405677
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10224463	0.81[ASN][1000 genomes]
rs10225552	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10226033	0.81[ASN][1000 genomes]
rs10228201	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10230610	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10233385	0.85[EUR][1000 genomes]
rs10233596	0.81[ASN][1000 genomes]
rs10240673	0.81[ASN][1000 genomes]
rs10241173	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10244817	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10246424	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10249722	0.81[ASN][1000 genomes]
rs10253613	0.81[ASN][1000 genomes]
rs10264060	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10265763	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10271646	0.81[ASN][1000 genomes]
rs10281582	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12111865	0.81[ASN][1000 genomes]
rs1541416	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1541418	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17246404	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2107939	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2286175	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2402751	0.88[ASN][1000 genomes]
rs2402752	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28523990	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28622327	0.81[ASN][1000 genomes]
rs28638102	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28728448	0.81[ASN][1000 genomes]
rs28844358	0.81[ASN][1000 genomes]
rs34986416	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36045816	0.81[ASN][1000 genomes]
rs3925331	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4473974	0.81[ASN][1000 genomes]
rs4532534	0.81[ASN][1000 genomes]
rs55964341	0.81[ASN][1000 genomes]
rs56313563	0.81[ASN][1000 genomes]
rs56321835	0.81[ASN][1000 genomes]
rs56356267	0.81[ASN][1000 genomes]
rs56387611	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59294613	0.81[ASN][1000 genomes]
rs59670428	0.81[ASN][1000 genomes]
rs66492217	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66513837	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66526112	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66665074	0.81[ASN][1000 genomes]
rs66922607	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67084428	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67146030	0.81[ASN][1000 genomes]
rs67552763	0.81[ASN][1000 genomes]
rs67585224	0.81[ASN][1000 genomes]
rs67939974	0.81[ASN][1000 genomes]
rs68007199	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68091803	0.81[ASN][1000 genomes]
rs6943653	0.81[ASN][1000 genomes]
rs6952721	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6971909	0.81[ASN][1000 genomes]
rs720613	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs720614	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs722560	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs727505	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7777947	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7790856	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7791430	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7795943	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7801661	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7806680	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9655845	0.81[ASN][1000 genomes]
rs988699	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs989177	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3409218	chr7:124405141-124407689	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv3329449	chr7:124405416-124407539	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2239532	GPR37	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124393600-124406800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr7:124397400-124406600	Active TSS	Brain Substantia Nigra	brain
3	chr7:124398400-124406800	Active TSS	Brain Cingulate Gyrus	brain
4	chr7:124399600-124406800	Active TSS	Brain Anterior Caudate	brain
5	chr7:124400600-124406800	Active TSS	Brain Angular Gyrus	brain
6	chr7:124401800-124406800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:124402200-124406200	Active TSS	NHLF	lung
8	chr7:124402200-124406800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:124402400-124406800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr7:124402600-124405800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr7:124402600-124405800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:124402600-124405800	Flanking Active TSS	Liver	Liver
13	chr7:124402800-124406200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:124402800-124406200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:124403600-124405800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr7:124403800-124406400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:124404000-124405800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:124404000-124405800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:124404000-124405800	Bivalent/Poised TSS	Fetal Kidney	kidney
20	chr7:124404000-124405800	Active TSS	Placenta Amnion	Placenta Amnion
21	chr7:124404000-124405800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
22	chr7:124404000-124406000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:124404000-124406000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
24	chr7:124404000-124406000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr7:124404000-124406000	Flanking Active TSS	Pancreas	Pancrea
26	chr7:124404000-124406000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr7:124404000-124406200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr7:124404000-124406200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
29	chr7:124404000-124406200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
30	chr7:124404000-124406200	Bivalent/Poised TSS	NHDF-Ad	bronchial
31	chr7:124404200-124405800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
32	chr7:124404200-124405800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr7:124404200-124405800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr7:124404200-124406200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:124404200-124406600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr7:124404200-124406600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:124404400-124405800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr7:124404400-124405800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:124404400-124405800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
40	chr7:124404400-124405800	ZNF genes & repeats	Ovary	ovary
41	chr7:124404400-124406200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:124404400-124406200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:124404400-124406600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:124404600-124405800	Bivalent/Poised TSS	Small Intestine	intestine
45	chr7:124404600-124406000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:124404600-124406000	Flanking Active TSS	Right Ventricle	heart
47	chr7:124404600-124406200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:124404600-124406200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
49	chr7:124404600-124406200	Active TSS	Esophagus	oesophagus
50	chr7:124404600-124406200	Bivalent/Poised TSS	A549	lung

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