Variant report

Variant	rs1989814
Chromosome Location	chr7:107045076-107045077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107040494..107042085-chr7:107043869..107046355,2	K562	blood:

Extended variants
information (count: 155 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs1018946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1018947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10464620	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10487271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10953533	0.93[ASN][1000 genomes]
rs10953534	0.93[ASN][1000 genomes]
rs10953535	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10953536	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10953537	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953541	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1121312	0.93[ASN][1000 genomes]
rs11532774	1.00[JPT][hapmap]
rs11761181	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11764448	0.93[ASN][1000 genomes]
rs11766060	0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11766131	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11769527	0.93[ASN][1000 genomes]
rs11769861	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11769901	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11770061	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11773514	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12154285	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12155231	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12531187	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12532447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12532514	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12532849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532953	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12532967	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12533516	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12533694	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12533767	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12534000	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12534676	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12535081	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12535093	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12535258	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12535761	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12535814	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536485	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12536491	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12536603	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12537011	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12537374	0.94[ASN][1000 genomes]
rs12537730	0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12537733	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12537785	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12538090	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12538769	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12538848	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12539895	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12540475	0.92[ASN][1000 genomes]
rs1548523	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1548524	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17349904	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs17350182	0.93[ASN][1000 genomes]
rs17403088	0.93[CHB][hapmap]
rs17404067	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17427849	0.93[ASN][1000 genomes]
rs17428071	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17428126	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17428504	0.93[ASN][1000 genomes]
rs17429118	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17429146	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17429825	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17481842	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1978085	0.82[EUR][1000 genomes]
rs2023892	0.92[ASN][1000 genomes]
rs2107318	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2107319	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2189501	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2249043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299422	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2395859	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2395880	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2395881	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2894459	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34084719	0.82[EUR][1000 genomes]
rs3757713	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779498	0.93[ASN][1000 genomes]
rs3801958	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3801959	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3801963	1.00[CEU][hapmap];0.93[ASN][1000 genomes]
rs3815148	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3823959	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3823960	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4515482	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4727670	0.89[ASN][1000 genomes]
rs4727671	0.93[ASN][1000 genomes]
rs4730226	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4730227	0.92[ASN][1000 genomes]
rs4730228	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4730229	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4730231	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4730232	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4730233	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4730239	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4730241	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4730242	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4730248	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs4730250	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5002976	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57525841	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58319984	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58663672	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58689670	0.85[EUR][1000 genomes]
rs59782202	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59900773	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60255281	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61406169	0.93[ASN][1000 genomes]
rs61511581	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61673847	0.93[ASN][1000 genomes]
rs6466162	0.93[ASN][1000 genomes]
rs6946036	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6949961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6957186	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6960813	0.93[ASN][1000 genomes]
rs6963917	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6964395	0.81[ASN][1000 genomes]
rs6964798	0.95[ASN][1000 genomes]
rs6964966	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6965001	0.95[ASN][1000 genomes]
rs6967639	0.81[ASN][1000 genomes]
rs6967745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6979368	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs763386	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7777976	0.94[ASN][1000 genomes]
rs7779062	0.95[ASN][1000 genomes]
rs7781947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7783181	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7783562	0.94[ASN][1000 genomes]
rs7785962	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7789500	0.89[ASN][1000 genomes]
rs7789678	0.88[ASN][1000 genomes]
rs7793594	0.94[ASN][1000 genomes]
rs7794915	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7800443	0.93[ASN][1000 genomes]
rs7803290	0.95[ASN][1000 genomes]
rs7804979	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7807648	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7809508	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7810216	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7981	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8180747	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9641378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs997311	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv1019963	chr7:107033342-107188641	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv539052	chr7:107033342-107188641	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1989814	GPR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107001400-107053600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:107003800-107048400	Weak transcription	Dnd41	blood
3	chr7:107003800-107050200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:107008400-107048200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:107022200-107053000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:107027400-107045800	Weak transcription	Right Atrium	heart
7	chr7:107027400-107053400	Weak transcription	Gastric	stomach
8	chr7:107027800-107047200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:107027800-107050200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr7:107027800-107086800	Weak transcription	Aorta	Aorta
11	chr7:107028000-107052800	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:107028000-107054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:107028200-107053000	Weak transcription	Fetal Stomach	stomach
14	chr7:107028200-107082400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:107028200-107103800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:107028800-107053000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:107028800-107053200	Weak transcription	K562	blood
18	chr7:107029400-107050400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:107030200-107049000	Weak transcription	Right Ventricle	heart
20	chr7:107031600-107069600	Weak transcription	Fetal Kidney	kidney
21	chr7:107031800-107050200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:107032000-107050200	Weak transcription	Fetal Intestine Large	intestine
23	chr7:107032200-107045200	Weak transcription	HepG2	liver
24	chr7:107032400-107068000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:107033800-107069800	Weak transcription	Small Intestine	intestine
26	chr7:107034000-107055600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:107034400-107045600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:107035800-107045800	Weak transcription	HSMM	muscle
29	chr7:107035800-107052800	Weak transcription	HSMMtube	muscle
30	chr7:107035800-107133000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:107036000-107050800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:107036200-107051000	Weak transcription	Liver	Liver
33	chr7:107036600-107050200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:107036800-107069800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:107037000-107053200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:107037000-107069800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:107037800-107045600	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:107037800-107045800	Weak transcription	Left Ventricle	heart
39	chr7:107037800-107045800	Weak transcription	Pancreas	Pancrea
40	chr7:107037800-107102200	Weak transcription	Ovary	ovary
41	chr7:107038000-107054000	Weak transcription	Fetal Heart	heart
42	chr7:107038200-107069600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr7:107038600-107046400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr7:107038800-107045800	Weak transcription	Brain Anterior Caudate	brain
45	chr7:107038800-107100600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr7:107039000-107050600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr7:107039000-107068000	Weak transcription	Lung	lung
48	chr7:107039200-107050600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:107040200-107048200	Weak transcription	Primary B cells from cord blood	blood
50	chr7:107040200-107050200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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