Variant report

Variant	rs7809508
Chromosome Location	chr7:107004119-107004120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
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	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10953536	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953537	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1121312	0.82[EUR][1000 genomes]
rs11761181	0.82[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	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11769901	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11770061	0.89[EUR][1000 genomes]
rs11773514	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12154285	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12155231	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531187	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12532447	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12532514	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532849	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12532967	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12533516	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12534000	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12534676	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12535081	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535093	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535258	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535814	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12536485	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12536491	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12536603	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12537011	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12537733	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12537785	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538090	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538769	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538848	0.94[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	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1548524	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17350182	0.81[EUR][1000 genomes]
rs17429118	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17429146	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17429825	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978085	0.81[EUR][1000 genomes]
rs1989814	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2189501	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2249043	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2299422	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2395859	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2395880	0.89[EUR][1000 genomes]
rs2395881	0.89[EUR][1000 genomes]
rs2894459	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34084719	0.81[EUR][1000 genomes]
rs3757713	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3779498	0.82[EUR][1000 genomes]
rs3801958	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3801959	0.93[EUR][1000 genomes]
rs3801963	0.81[EUR][1000 genomes]
rs3815148	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3823959	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3823960	0.90[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	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4730232	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4730233	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730239	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730241	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730242	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5002976	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57525841	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58319984	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58663672	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58689670	0.84[EUR][1000 genomes]
rs59782202	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59900773	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60255281	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61406169	0.81[EUR][1000 genomes]
rs61511581	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6466162	0.81[EUR][1000 genomes]
rs6960813	0.82[EUR][1000 genomes]
rs6963917	0.86[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	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7800443	0.82[EUR][1000 genomes]
rs7803290	0.82[EUR][1000 genomes]
rs7804979	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807648	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810216	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997311	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7809508	GPR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 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	chr7:106998400-107004200	Weak transcription	A549	lung
5	chr7:106999000-107005000	Weak transcription	HUVEC	blood vessel
6	chr7:106999600-107005200	Strong transcription	Primary T cells from cord blood	blood
7	chr7:106999600-107007600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:107000000-107004400	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr7:107000600-107004200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:107001000-107012200	Weak transcription	NHDF-Ad	bronchial
11	chr7:107001200-107004600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:107001200-107012400	Weak transcription	Fetal Heart	heart
13	chr7:107001200-107013600	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:107001400-107004200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:107001400-107004200	Weak transcription	Brain Substantia Nigra	brain
16	chr7:107001400-107004600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:107001400-107004600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:107001400-107005800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:107001400-107006000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:107001400-107006200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:107001400-107006200	Weak transcription	HMEC	breast
22	chr7:107001400-107006400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:107001400-107012200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:107001400-107012200	Weak transcription	Colonic Mucosa	Colon
25	chr7:107001400-107012600	Weak transcription	NH-A	brain
26	chr7:107001400-107013600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:107001400-107013800	Weak transcription	Psoas Muscle	Psoas
28	chr7:107001400-107024600	Weak transcription	Lung	lung
29	chr7:107001400-107026800	Weak transcription	Aorta	Aorta
30	chr7:107001400-107027200	Weak transcription	Right Ventricle	heart
31	chr7:107001400-107031200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:107001400-107037600	Weak transcription	Spleen	Spleen
33	chr7:107001400-107053600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:107001600-107004200	Weak transcription	Brain Germinal Matrix	brain
35	chr7:107001600-107004200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr7:107001600-107006000	Weak transcription	NHEK	skin
37	chr7:107001600-107011200	Weak transcription	GM12878-XiMat	blood
38	chr7:107001600-107012600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:107001600-107013000	Weak transcription	Hela-S3	cervix
40	chr7:107001600-107014000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:107001800-107004200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:107001800-107004400	Strong transcription	Ovary	ovary
43	chr7:107001800-107005400	Weak transcription	HSMM	muscle
44	chr7:107001800-107006200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:107002000-107004200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr7:107002200-107004400	Weak transcription	Fetal Thymus	thymus
47	chr7:107002400-107007400	Weak transcription	Fetal Stomach	stomach
48	chr7:107002400-107013200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:107002400-107014400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:107002400-107024200	Weak transcription	Fetal Intestine Small	intestine

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