Variant report

Variant	rs10953535
Chromosome Location	chr7:106983000-106983001
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	chr7:106978639..106980974-chr7:106982232..106983801,2	K562	blood:

Extended variants
information (count: 152 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1002935	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1018946	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1018947	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487271	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953529	0.95[ASN][1000 genomes]
rs10953530	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953531	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953533	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953534	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953536	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10953537	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1121312	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11761181	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11762152	0.84[ASN][1000 genomes]
rs11764448	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11766060	0.95[ASN][1000 genomes]
rs11766131	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11769527	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11769861	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11769901	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11770061	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11773514	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12154285	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12155231	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12531187	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12532447	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532514	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12532849	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12532953	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12532967	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533516	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533767	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534000	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12534676	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12535081	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12535093	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12535258	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12535814	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12536485	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536491	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536574	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12536603	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12537011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12537374	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12537730	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12537733	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12537785	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12538090	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12538769	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12538848	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12540475	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1548523	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1548524	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17349904	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17350182	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17427123	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17427158	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17427849	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17428071	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17428126	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17428504	0.99[ASN][1000 genomes]
rs17429118	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17429146	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17429825	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1989814	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2023892	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2107318	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2107319	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2189501	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249043	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299422	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2395859	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2395880	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2395881	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2894459	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3757713	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3779498	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3801958	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3801959	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3801963	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3801965	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3815148	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3823959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3823960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4515482	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4727670	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4727671	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4730222	0.84[ASN][1000 genomes]
rs4730223	0.89[ASN][1000 genomes]
rs4730224	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4730226	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730227	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4730228	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730229	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4730231	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730232	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730233	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730239	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4730241	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4730242	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5002976	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57525841	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58319984	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58663672	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58689670	0.80[EUR][1000 genomes]
rs59782202	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59900773	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60255281	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61014091	0.84[ASN][1000 genomes]
rs61406169	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61511581	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61673847	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6466162	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6946036	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6947675	0.92[ASN][1000 genomes]
rs6949961	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6951639	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6960813	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6963917	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964798	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964966	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965001	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967639	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6967745	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6971675	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6971774	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7777976	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7779062	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781947	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7783181	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783562	0.97[ASN][1000 genomes]
rs7789500	0.92[ASN][1000 genomes]
rs7789678	0.91[ASN][1000 genomes]
rs7793594	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7794915	0.95[ASN][1000 genomes]
rs7794965	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7798223	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7800443	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7803290	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804979	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7807648	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7809508	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7810216	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7981	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9641378	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs997311	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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
rs10953535	GPR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106888800-106999400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:106923800-106999400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:106946200-106999800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:106946400-106983600	Weak transcription	Aorta	Aorta
5	chr7:106946400-106983600	Weak transcription	Fetal Intestine Small	intestine
6	chr7:106946400-106999400	Weak transcription	Pancreas	Pancrea
7	chr7:106953800-106999400	Weak transcription	Left Ventricle	heart
8	chr7:106965400-106998000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:106967600-106983800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:106967800-106999800	Weak transcription	Fetal Heart	heart
11	chr7:106969200-106984200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:106973800-106996000	Weak transcription	Primary T cells from cord blood	blood
13	chr7:106973800-106998200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:106974000-106998000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr7:106974600-106999400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:106974800-106984200	Weak transcription	Primary B cells from cord blood	blood
17	chr7:106979200-106984400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:106979600-106984200	Weak transcription	Dnd41	blood
19	chr7:106982400-106983200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:106982400-106999800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:106982800-106988000	Weak transcription	Fetal Kidney	kidney

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