Variant report

Variant	rs6951639
Chromosome Location	chr7:106817639-106817640
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr7:106817568-106817690	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr7:106816812-106818063	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:106806204..106812770-chr7:106813358..106822449,17	MCF-7	breast:
2	chr7:106813942..106815556-chr7:106815570..106817653,2	MCF-7	breast:
3	chr7:106817268..106819848-chr7:106864342..106867128,2	MCF-7	breast:
4	chr7:106816787..106818629-chr7:106826210..106828534,2	K562	blood:

Variant related genes	Relation type
HBP1	TF binding region
ENSG00000105856	Chromatin interaction

Extended variants
information (count: 142 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs1002935	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1018946	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1018947	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10253172	0.91[AMR][1000 genomes]
rs10253291	0.83[AMR][1000 genomes]
rs10487271	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10953529	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10953530	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10953531	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10953533	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10953534	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10953535	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10953537	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1121312	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11761181	0.89[ASN][1000 genomes]
rs11762152	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11764448	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11766060	0.84[ASN][1000 genomes]
rs11767623	0.89[AMR][1000 genomes]
rs11769527	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11769861	0.88[ASN][1000 genomes]
rs11769901	0.88[ASN][1000 genomes]
rs11773514	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12154285	0.88[ASN][1000 genomes]
rs12531187	0.88[ASN][1000 genomes]
rs12532447	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532849	0.81[ASN][1000 genomes]
rs12532953	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12532967	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12533516	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12533767	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12534000	0.88[ASN][1000 genomes]
rs12534676	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12536485	0.89[ASN][1000 genomes]
rs12536491	0.89[ASN][1000 genomes]
rs12536574	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12536603	0.87[ASN][1000 genomes]
rs12537011	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12537374	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12537730	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12537733	0.88[ASN][1000 genomes]
rs12540475	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12705405	0.89[AMR][1000 genomes]
rs1548523	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1548524	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17349904	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17350182	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17427123	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17427158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17427849	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17428071	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17428126	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17428504	0.88[ASN][1000 genomes]
rs17429118	0.88[ASN][1000 genomes]
rs17429146	0.88[ASN][1000 genomes]
rs1981696	0.89[AMR][1000 genomes]
rs2023892	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2107318	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2107319	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2189501	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2249043	0.86[ASN][1000 genomes]
rs2299422	0.88[ASN][1000 genomes]
rs2395859	0.85[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];0.80[EUR][1000 genomes]
rs257377	0.89[AMR][1000 genomes]
rs257378	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs257379	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs257381	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs257382	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs257385	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs257386	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs257387	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2894459	0.88[ASN][1000 genomes]
rs3729876	0.91[AMR][1000 genomes]
rs3729877	0.89[AMR][1000 genomes]
rs3779498	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3779500	0.89[AMR][1000 genomes]
rs3801958	0.86[ASN][1000 genomes]
rs3801959	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3801963	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3801965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3815148	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3823959	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3823960	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4727670	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4727671	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4730222	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4730223	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4730224	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4730226	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4730227	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4730228	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4730229	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4730231	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4730232	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57525841	0.88[ASN][1000 genomes]
rs58319984	0.88[ASN][1000 genomes]
rs58663672	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59900773	0.89[ASN][1000 genomes]
rs60255281	0.88[ASN][1000 genomes]
rs61014091	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61406169	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61511581	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61673847	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6466160	0.89[AMR][1000 genomes]
rs6466162	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6946036	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6946931	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6947675	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6947857	0.91[AMR][1000 genomes]
rs6949961	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6960148	0.91[AMR][1000 genomes]
rs6960813	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6963917	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6964798	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6964966	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6965001	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6967745	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6971675	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6971774	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6977868	0.91[AMR][1000 genomes]
rs7777976	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7779062	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7781947	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7783181	0.89[ASN][1000 genomes]
rs7783562	0.86[ASN][1000 genomes]
rs7789500	0.87[ASN][1000 genomes]
rs7789678	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7793594	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7794915	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7794965	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7798223	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7800443	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7803290	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7981	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9641378	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs997311	0.80[EUR][1000 genomes];0.89[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
rs6951639	GPR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106810600-106818200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr7:106810600-106836800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:106810800-106826800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:106810800-106828200	Weak transcription	Esophagus	oesophagus
5	chr7:106810800-106836200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:106811000-106820000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:106811000-106820200	Weak transcription	HSMM	muscle
8	chr7:106811000-106824200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:106811000-106826800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:106811000-106826800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:106811000-106828800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:106811200-106817800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr7:106811200-106818800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:106811200-106819400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:106811200-106821600	Weak transcription	Thymus	Thymus
16	chr7:106811400-106819800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:106811400-106819800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:106811400-106820000	Weak transcription	NH-A	brain
19	chr7:106811400-106820200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:106811400-106820200	Weak transcription	NHEK	skin
21	chr7:106811400-106820400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:106811400-106824800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:106811400-106825200	Weak transcription	Lung	lung
24	chr7:106811400-106825800	Weak transcription	NHLF	lung
25	chr7:106812000-106820000	Weak transcription	HepG2	liver
26	chr7:106812200-106819800	Weak transcription	Dnd41	blood
27	chr7:106812200-106820000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr7:106812200-106820000	Weak transcription	Small Intestine	intestine
29	chr7:106812200-106820200	Weak transcription	Gastric	stomach
30	chr7:106812200-106820400	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:106812200-106825200	Weak transcription	Aorta	Aorta
32	chr7:106812400-106819800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:106812400-106820200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:106812400-106820200	Weak transcription	Placenta	Placenta
35	chr7:106812400-106822600	Weak transcription	Fetal Brain Male	brain
36	chr7:106812400-106826200	Weak transcription	Spleen	Spleen
37	chr7:106812600-106819600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr7:106812800-106818000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr7:106812800-106819800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr7:106813200-106820000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr7:106813200-106820200	Weak transcription	Osteobl	bone
42	chr7:106813400-106819800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr7:106814000-106822600	Weak transcription	Fetal Brain Female	brain
44	chr7:106814400-106819800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:106814600-106818000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:106814600-106820000	Weak transcription	HUVEC	blood vessel
47	chr7:106814800-106819800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:106814800-106820400	Weak transcription	Fetal Stomach	stomach
49	chr7:106814800-106821000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:106814800-106822400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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