Variant report

Variant	rs12537730
Chromosome Location	chr7:106844281-106844282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:106842331..106847255-chr7:106851023..106853343,4	K562	blood:
2	chr7:106808137..106810253-chr7:106842229..106844703,2	MCF-7	breast:
3	chr7:106844012..106846635-chr7:106846646..106848809,2	K562	blood:
4	chr7:106841256..106844464-chr7:106865963..106869229,3	K562	blood:

Variant related genes	Relation type
ENSG00000105856	Chromatin interaction

Extended variants
information (count: 153 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs1002935	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1018946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1018947	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10253172	0.91[AMR][1000 genomes]
rs10253291	0.83[AMR][1000 genomes]
rs10487271	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10953529	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10953530	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953531	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953533	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953534	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10953535	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10953537	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1121312	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11761181	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11762152	0.85[ASN][1000 genomes]
rs11764448	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11766060	0.90[ASN][1000 genomes]
rs11767623	0.89[AMR][1000 genomes]
rs11769527	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11769861	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769901	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11773514	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12154285	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12531187	0.97[ASN][1000 genomes]
rs12532447	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12532849	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12532953	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12532967	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12533516	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12533767	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12534000	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12534676	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12535081	0.80[EUR][1000 genomes]
rs12535258	0.82[EUR][1000 genomes]
rs12535814	0.90[ASN][1000 genomes]
rs12536485	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12536491	0.96[ASN][1000 genomes]
rs12536574	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12536603	0.93[ASN][1000 genomes]
rs12537011	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12537374	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12537733	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12538769	0.81[EUR][1000 genomes]
rs12538848	0.81[EUR][1000 genomes]
rs12540475	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12705405	0.89[AMR][1000 genomes]
rs1548523	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1548524	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17349904	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17350182	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17427123	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17427158	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17427849	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17428071	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17428126	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17428504	0.94[ASN][1000 genomes]
rs17429118	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17429146	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1981696	0.89[AMR][1000 genomes]
rs1989814	0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2023892	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2107318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2107319	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2189501	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2249043	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299422	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2395859	0.92[ASN][1000 genomes]
rs257371	0.89[AMR][1000 genomes]
rs257372	0.89[AMR][1000 genomes]
rs257373	0.89[AMR][1000 genomes]
rs257375	0.89[AMR][1000 genomes]
rs257377	0.89[AMR][1000 genomes]
rs257378	0.91[AMR][1000 genomes]
rs257379	0.83[AMR][1000 genomes]
rs257381	0.89[AMR][1000 genomes]
rs257382	0.89[AMR][1000 genomes]
rs257385	0.91[AMR][1000 genomes]
rs257386	0.91[AMR][1000 genomes]
rs257387	0.89[AMR][1000 genomes]
rs2894459	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3729876	0.91[AMR][1000 genomes]
rs3729877	0.89[AMR][1000 genomes]
rs3757713	0.90[ASN][1000 genomes]
rs3779498	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3779500	0.89[AMR][1000 genomes]
rs3801958	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3801959	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3801963	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3801965	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3815148	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3823959	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3823960	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4727670	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4727671	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4730222	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4730223	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4730224	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730226	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4730227	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730228	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730229	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4730231	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730232	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730233	0.81[EUR][1000 genomes]
rs57525841	0.94[ASN][1000 genomes]
rs58319984	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58663672	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59900773	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60255281	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61014091	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61406169	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61511581	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61673847	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6466160	0.89[AMR][1000 genomes]
rs6466162	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6946036	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6946931	0.91[AMR][1000 genomes]
rs6947675	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6947857	0.91[AMR][1000 genomes]
rs6949961	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6951639	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6960148	0.91[AMR][1000 genomes]
rs6960813	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6963917	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6964798	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6964966	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6965001	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6967638	0.83[EUR][1000 genomes]
rs6967639	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6967745	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6971675	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6971774	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6977868	0.91[AMR][1000 genomes]
rs7777976	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7779062	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7781947	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7783181	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7783562	0.93[ASN][1000 genomes]
rs7789500	0.91[ASN][1000 genomes]
rs7789678	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7793594	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7794915	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7794965	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7798223	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7800443	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7803290	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7807648	0.82[EUR][1000 genomes]
rs7981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9641378	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs997311	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12537730	GPR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106815200-106849400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:106817400-106851400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr7:106819600-106851800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr7:106819800-106846600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:106819800-106851600	Strong transcription	Dnd41	blood
6	chr7:106820000-106851200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:106820000-106851600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr7:106820200-106848400	Strong transcription	Placenta	Placenta
9	chr7:106820200-106851200	Strong transcription	Primary B cells from cord blood	blood
10	chr7:106820200-106851800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:106820200-106851800	Strong transcription	Fetal Thymus	thymus
12	chr7:106820400-106845200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:106820400-106848200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:106821000-106848400	Strong transcription	Liver	Liver
15	chr7:106821000-106854600	Strong transcription	Primary T cells from cord blood	blood
16	chr7:106821200-106845800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:106821200-106846600	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr7:106821200-106851800	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr7:106821200-106851800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:106821200-106851800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr7:106821400-106851800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr7:106821600-106851600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:106821600-106851800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:106821800-106847800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:106821800-106851400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:106822000-106847400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:106823000-106851200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:106823800-106849600	Weak transcription	HMEC	breast
29	chr7:106828600-106849600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:106828600-106851800	Strong transcription	Fetal Intestine Large	intestine
31	chr7:106828800-106849800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:106828800-106851200	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:106830400-106846600	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:106831400-106844400	Weak transcription	Right Ventricle	heart
35	chr7:106831400-106847800	Weak transcription	Fetal Brain Male	brain
36	chr7:106832000-106852400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr7:106832800-106847800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:106833000-106846000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:106833400-106845600	Weak transcription	A549	lung
40	chr7:106833600-106849400	Weak transcription	Esophagus	oesophagus
41	chr7:106834200-106851600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:106834800-106851000	Strong transcription	Thymus	Thymus
43	chr7:106835200-106851800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:106835400-106846200	Strong transcription	Fetal Lung	lung
45	chr7:106835400-106852200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:106835600-106848000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:106835800-106851000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr7:106835800-106851600	Strong transcription	Fetal Muscle Leg	muscle
49	chr7:106836200-106846200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:106836200-106846800	Strong transcription	Duodenum Smooth Muscle	Duodenum

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