Variant report

Variant	rs7793594
Chromosome Location	chr7:106891829-106891830
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:106890607..106892740-chr7:106903344..106904868,2	K562	blood:

Extended variants
information (count: 158 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs1002935	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1018946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1018947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10253172	0.85[CEU][hapmap];0.82[AMR][1000 genomes]
rs10253291	0.85[CEU][hapmap]
rs10487271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953529	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10953530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10953531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10953533	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953534	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10953535	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953537	0.96[ASN][1000 genomes]
rs1121312	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11761181	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11762152	0.81[ASN][1000 genomes]
rs11764448	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11766060	0.87[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11767623	0.80[AMR][1000 genomes]
rs11769527	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11769861	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11769901	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11773514	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12154285	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12155231	0.81[EUR][1000 genomes]
rs12531187	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12532447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12532849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12532953	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12532967	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12533516	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12533767	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12534000	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12534676	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535081	0.83[EUR][1000 genomes]
rs12535258	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12535814	0.94[ASN][1000 genomes]
rs12536485	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12536491	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12536574	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12536603	0.97[ASN][1000 genomes]
rs12537011	0.96[ASN][1000 genomes]
rs12537374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537730	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12537733	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12538090	0.82[EUR][1000 genomes]
rs12538769	0.84[EUR][1000 genomes]
rs12538848	0.84[EUR][1000 genomes]
rs12540475	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12705405	0.82[CEU][hapmap];0.80[AMR][1000 genomes]
rs1548523	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548524	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17349904	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17350182	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17427123	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17427158	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17427849	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17428071	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17428126	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17428504	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17429118	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17429146	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1981696	0.84[CEU][hapmap];0.80[AMR][1000 genomes]
rs1989814	0.94[ASN][1000 genomes]
rs2023892	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2107318	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2107319	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2189501	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2249043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299422	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2395859	0.96[ASN][1000 genomes]
rs257371	0.80[AMR][1000 genomes]
rs257372	0.80[AMR][1000 genomes]
rs257373	0.80[AMR][1000 genomes]
rs257375	0.80[AMR][1000 genomes]
rs257377	0.84[CEU][hapmap];0.80[AMR][1000 genomes]
rs257378	0.85[CEU][hapmap];0.82[AMR][1000 genomes]
rs257381	0.80[AMR][1000 genomes]
rs257382	0.80[AMR][1000 genomes]
rs257385	0.82[AMR][1000 genomes]
rs257386	0.82[AMR][1000 genomes]
rs257387	0.84[CEU][hapmap];0.80[AMR][1000 genomes]
rs2894459	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3729876	0.84[CEU][hapmap];0.82[AMR][1000 genomes]
rs3729877	0.84[CEU][hapmap];0.80[AMR][1000 genomes]
rs3757713	0.94[ASN][1000 genomes]
rs3779498	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779500	0.84[CEU][hapmap];0.80[AMR][1000 genomes]
rs3801958	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801959	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3801963	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3801965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3815148	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3823959	0.96[ASN][1000 genomes]
rs3823960	0.96[ASN][1000 genomes]
rs4727670	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4727671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730222	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4730223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4730224	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4730226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4730227	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4730228	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4730229	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730231	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4730232	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4730233	0.84[EUR][1000 genomes]
rs57525841	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58319984	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58663672	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59900773	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60255281	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61014091	0.81[ASN][1000 genomes]
rs61406169	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61511581	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61673847	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6466160	0.85[CEU][hapmap];0.80[AMR][1000 genomes]
rs6466162	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6946036	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946931	0.84[CEU][hapmap];0.82[AMR][1000 genomes]
rs6947675	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6947857	0.85[CEU][hapmap];0.82[AMR][1000 genomes]
rs6949961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6951639	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6960148	0.85[CEU][hapmap];0.82[AMR][1000 genomes]
rs6960813	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6963917	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6964798	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6964966	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6965001	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6967638	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6967639	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6967745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6971675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6971774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6977868	0.82[CEU][hapmap];0.82[AMR][1000 genomes]
rs7777976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779062	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7781947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7783181	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7783562	0.97[ASN][1000 genomes]
rs7789500	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7789678	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7794598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7794915	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7794965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7798223	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7800443	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7803290	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7807648	0.85[EUR][1000 genomes]
rs7981	0.94[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9641378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs997311	0.86[EUR][1000 genomes];0.97[ASN][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	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	esv2756226	chr7:106850755-106944563	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv1016691	chr7:106880953-106960515	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1015615	chr7:106888529-106962332	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7793594	GPR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106846000-106925800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:106850800-106895200	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:106851000-106897600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:106851000-106946000	Weak transcription	Esophagus	oesophagus
5	chr7:106851200-106892400	Weak transcription	Gastric	stomach
6	chr7:106851200-106892600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:106853400-106925600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:106865600-106892400	Weak transcription	HepG2	liver
9	chr7:106866600-106909600	Weak transcription	Placenta	Placenta
10	chr7:106874000-106917800	Weak transcription	Osteobl	bone
11	chr7:106874000-106922600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:106874000-106929200	Weak transcription	NH-A	brain
13	chr7:106874000-106945600	Weak transcription	Pancreas	Pancrea
14	chr7:106875400-106908000	Weak transcription	HMEC	breast
15	chr7:106875600-106898400	Weak transcription	HUVEC	blood vessel
16	chr7:106878800-106895000	Weak transcription	K562	blood
17	chr7:106881200-106895600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:106883000-106918800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:106883400-106910200	Weak transcription	Lung	lung
20	chr7:106883400-106911400	Weak transcription	Right Ventricle	heart
21	chr7:106883600-106894200	Weak transcription	Fetal Heart	heart
22	chr7:106884800-106892600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:106885000-106897800	Weak transcription	Fetal Thymus	thymus
24	chr7:106885400-106897000	Weak transcription	NHEK	skin
25	chr7:106886400-106971400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:106886800-106946000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:106887000-106935800	Weak transcription	Small Intestine	intestine
28	chr7:106887400-106898200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:106887600-106910200	Weak transcription	Adipose Nuclei	Adipose
30	chr7:106887600-106910400	Weak transcription	Psoas Muscle	Psoas
31	chr7:106887800-106903000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:106888400-106900600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:106888600-106894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:106888600-106894000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:106888600-106899000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:106888600-106910000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:106888600-106926600	Weak transcription	Ovary	ovary
38	chr7:106888600-106930800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:106888600-106931600	Weak transcription	Dnd41	blood
40	chr7:106888800-106894000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:106888800-106897600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:106888800-106910200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:106888800-106910200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:106888800-106910200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr7:106888800-106911400	Weak transcription	Fetal Intestine Small	intestine
46	chr7:106888800-106913200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:106888800-106917400	Weak transcription	HSMM	muscle
48	chr7:106888800-106930800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:106888800-106932000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:106888800-106933400	Weak transcription	Fetal Stomach	stomach

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