Variant report

Variant	rs7804979
Chromosome Location	chr7:106999453-106999454
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:106998806..107000334-chr7:107005300..107008235,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs1002935	1.00[CEU][hapmap]
rs1018946	1.00[CEU][hapmap]
rs1018947	1.00[CEU][hapmap]
rs10464620	0.94[CEU][hapmap]
rs10487271	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10953530	1.00[CEU][hapmap]
rs10953531	1.00[CEU][hapmap]
rs10953534	0.82[EUR][1000 genomes]
rs10953535	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10953536	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953537	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1121312	0.82[EUR][1000 genomes]
rs11761181	0.85[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	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11769901	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11770061	0.89[EUR][1000 genomes]
rs11773514	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12154285	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12155231	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531187	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12532447	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12532514	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532849	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12532967	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12533516	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12534000	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12534676	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12535081	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535093	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535258	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535814	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12536485	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12536491	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12536603	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12537011	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12537733	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12537785	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538090	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538769	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538848	0.90[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	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1548524	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17349904	1.00[CEU][hapmap]
rs17350182	0.81[EUR][1000 genomes]
rs17428071	1.00[CEU][hapmap]
rs17428126	0.95[CEU][hapmap]
rs17429118	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17429146	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17429825	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17481842	0.80[CEU][hapmap]
rs1978085	0.81[EUR][1000 genomes]
rs1989814	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2107319	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2189501	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2249043	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2299422	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2395859	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2395880	0.89[EUR][1000 genomes]
rs2395881	0.89[EUR][1000 genomes]
rs257377	0.84[CEU][hapmap]
rs257378	0.85[CEU][hapmap]
rs257387	0.84[CEU][hapmap]
rs2894459	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34084719	0.81[EUR][1000 genomes]
rs3757713	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3779498	0.82[EUR][1000 genomes]
rs3801958	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3801959	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3801963	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs3801965	1.00[CEU][hapmap]
rs3815148	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3823959	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3823960	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4515482	0.88[EUR][1000 genomes]
rs4730223	1.00[CEU][hapmap]
rs4730227	0.80[EUR][1000 genomes]
rs4730228	0.82[EUR][1000 genomes]
rs4730229	0.82[EUR][1000 genomes]
rs4730231	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4730232	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4730233	0.89[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]
rs4730248	0.90[CEU][hapmap]
rs5002976	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57525841	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58319984	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58663672	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58689670	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59782202	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59900773	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60255281	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61406169	0.81[EUR][1000 genomes]
rs61511581	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6466162	0.81[EUR][1000 genomes]
rs6946036	0.95[CEU][hapmap]
rs6947675	1.00[CEU][hapmap]
rs6949961	1.00[CEU][hapmap]
rs6960813	0.82[EUR][1000 genomes]
rs6963917	0.89[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]
rs6967745	1.00[CEU][hapmap]
rs6971675	1.00[CEU][hapmap]
rs6971774	1.00[CEU][hapmap]
rs6979368	0.83[EUR][1000 genomes]
rs7781947	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7783181	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7794598	1.00[CEU][hapmap]
rs7794965	1.00[CEU][hapmap]
rs7800443	0.82[EUR][1000 genomes]
rs7803290	0.82[EUR][1000 genomes]
rs7807648	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809508	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810216	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7981	0.94[CEU][hapmap]
rs9641378	1.00[CEU][hapmap]
rs9969363	0.82[YRI][hapmap]
rs997311	0.89[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
rs7804979	GPR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106946200-106999800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:106967800-106999800	Weak transcription	Fetal Heart	heart
3	chr7:106982400-106999800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:106984000-106999800	Weak transcription	Aorta	Aorta
5	chr7:106984400-107006200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:106986000-107013200	Weak transcription	Small Intestine	intestine
7	chr7:106989200-107018800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:106990200-107000400	Weak transcription	HMEC	breast
9	chr7:106990400-107000600	Weak transcription	Hela-S3	cervix
10	chr7:106990800-107000000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:106991200-107000000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr7:106991400-107000400	Weak transcription	Psoas Muscle	Psoas
13	chr7:106992800-106999800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:106993400-107000200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:106993600-106999600	Weak transcription	Ovary	ovary
16	chr7:106993600-106999800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:106993800-107000200	Weak transcription	HepG2	liver
18	chr7:106994800-107000200	Weak transcription	Fetal Lung	lung
19	chr7:106995200-106999600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:106995400-106999600	Weak transcription	Liver	Liver
21	chr7:106996000-106999800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:106996200-106999800	Weak transcription	Brain Anterior Caudate	brain
23	chr7:106996200-107000000	Weak transcription	Brain Angular Gyrus	brain
24	chr7:106996200-107000200	Weak transcription	HSMMtube	muscle
25	chr7:106996200-107000200	Weak transcription	NH-A	brain
26	chr7:106996400-106999600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:106996400-106999600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:106996400-106999600	Weak transcription	NHLF	lung
29	chr7:106996400-106999800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:106996400-106999800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:106996400-107000200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:106996400-107000200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:106996400-107000400	Weak transcription	NHDF-Ad	bronchial
34	chr7:106996400-107003000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr7:106996600-106999600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:106996600-106999600	Weak transcription	Primary T cells from cord blood	blood
37	chr7:106996600-106999800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:106996600-107000000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:106996600-107000000	Weak transcription	HSMM	muscle
40	chr7:106996600-107000200	Weak transcription	Osteobl	bone
41	chr7:106997400-107000200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:106997400-107000600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:106997600-106999600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:106997600-107000200	Weak transcription	Fetal Brain Male	brain
45	chr7:106997800-106999600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:106997800-106999600	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:106997800-106999800	Weak transcription	Fetal Brain Female	brain
48	chr7:106997800-107000200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:106998000-106999600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:106998000-106999800	Weak transcription	Rectal Smooth Muscle	rectum

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