Variant report

Variant	rs12532514
Chromosome Location	chr7:107000952-107000953
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10487271	0.81[EUR][1000 genomes]
rs10953534	0.82[EUR][1000 genomes]
rs10953535	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10953536	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953537	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1121312	0.82[EUR][1000 genomes]
rs11761181	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11764448	0.82[EUR][1000 genomes]
rs11766131	0.89[EUR][1000 genomes]
rs11769527	0.82[EUR][1000 genomes]
rs11769861	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11769901	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11770061	0.89[EUR][1000 genomes]
rs11773514	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12154285	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12155231	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531187	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12532447	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12532849	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12532967	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12533516	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12534000	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12534676	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12535081	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535093	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535258	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535814	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12536485	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12536491	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12536603	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12537011	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12537733	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12537785	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538090	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538769	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538848	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539895	0.83[EUR][1000 genomes]
rs12705406	1.00[ASN][1000 genomes]
rs1548523	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1548524	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17350182	0.81[EUR][1000 genomes]
rs17429118	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17429146	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17429825	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978085	0.81[EUR][1000 genomes]
rs1989814	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2189501	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2249043	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2299422	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2395859	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2395880	0.89[EUR][1000 genomes]
rs2395881	0.89[EUR][1000 genomes]
rs2894459	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34084719	0.81[EUR][1000 genomes]
rs3757713	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3779498	0.82[EUR][1000 genomes]
rs3801958	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3801959	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3801963	0.81[EUR][1000 genomes]
rs3815148	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3823959	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3823960	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4515482	0.88[EUR][1000 genomes]
rs4730227	0.80[EUR][1000 genomes]
rs4730228	0.82[EUR][1000 genomes]
rs4730229	0.82[EUR][1000 genomes]
rs4730231	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4730232	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4730233	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730239	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730241	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730242	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5002976	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57525841	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58319984	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58663672	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58689670	0.84[EUR][1000 genomes]
rs59782202	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59900773	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60255281	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61406169	0.81[EUR][1000 genomes]
rs61511581	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6466162	0.81[EUR][1000 genomes]
rs6960813	0.82[EUR][1000 genomes]
rs6963917	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6964798	0.82[EUR][1000 genomes]
rs6964966	0.82[EUR][1000 genomes]
rs6965001	0.82[EUR][1000 genomes]
rs6979368	0.83[EUR][1000 genomes]
rs7781947	0.81[EUR][1000 genomes]
rs7783181	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7800443	0.82[EUR][1000 genomes]
rs7803290	0.82[EUR][1000 genomes]
rs7804979	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807648	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809508	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810216	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997311	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3383027	chr7:106802625-107096474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv888939	chr7:106849393-107045700	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv608073	chr7:106960515-107063686	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1832266	chr7:106961882-107136320	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12532514	GPR22	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106984400-107006200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:106986000-107013200	Weak transcription	Small Intestine	intestine
3	chr7:106989200-107018800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:106996400-107003000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:106998200-107003200	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:106998400-107004200	Weak transcription	A549	lung
7	chr7:106998600-107003800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:106998800-107001600	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:106998800-107003200	Strong transcription	Adipose Nuclei	Adipose
10	chr7:106998800-107003800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr7:106999000-107005000	Weak transcription	HUVEC	blood vessel
12	chr7:106999200-107001400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:106999200-107001400	ZNF genes & repeats	Spleen	Spleen
14	chr7:106999200-107001600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
15	chr7:106999400-107001000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:106999400-107001400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr7:106999400-107001400	ZNF genes & repeats	Esophagus	oesophagus
18	chr7:106999400-107001400	ZNF genes & repeats	Fetal Stomach	stomach
19	chr7:106999400-107001400	ZNF genes & repeats	Lung	lung
20	chr7:106999400-107001600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:106999400-107001600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:106999400-107001600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
23	chr7:106999400-107002000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr7:106999400-107002000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:106999400-107002400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:106999400-107002400	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr7:106999600-107001400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:106999600-107001400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:106999600-107001400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:106999600-107001400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:106999600-107001400	ZNF genes & repeats	Fetal Intestine Large	intestine
32	chr7:106999600-107001400	ZNF genes & repeats	Ovary	ovary
33	chr7:106999600-107001400	ZNF genes & repeats	Thymus	Thymus
34	chr7:106999600-107001600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:106999600-107001600	ZNF genes & repeats	Brain Germinal Matrix	brain
36	chr7:106999600-107001600	ZNF genes & repeats	Fetal Thymus	thymus
37	chr7:106999600-107001600	ZNF genes & repeats	GM12878-XiMat	blood
38	chr7:106999600-107001800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr7:106999600-107002800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:106999600-107003200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:106999600-107003800	ZNF genes & repeats	Dnd41	blood
42	chr7:106999600-107005200	Strong transcription	Primary T cells from cord blood	blood
43	chr7:106999600-107007600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr7:106999800-107001000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:106999800-107001000	ZNF genes & repeats	Brain Anterior Caudate	brain
46	chr7:106999800-107001200	ZNF genes & repeats	Fetal Heart	heart
47	chr7:106999800-107001200	Strong transcription	Pancreatic Islets	Pancreatic Islet
48	chr7:106999800-107001400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:106999800-107001400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr7:106999800-107001400	ZNF genes & repeats	Primary B cells from cord blood	blood

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