Variant report

Variant	rs4730222
Chromosome Location	chr7:106810293-106810294
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:106417564..106419367-chr7:106809462..106810979,2	K562	blood:
2	chr10:98591162..98592122-chr7:106809872..106810661,2	Hela-S3	cervix:
3	chr7:106682746..106686911-chr7:106807556..106811745,9	K562	blood:
4	chr7:106413235..106416729-chr7:106808294..106812162,5	K562	blood:
5	chr7:106412910..106417257-chr7:106805514..106810432,10	K562	blood:
6	chr7:106808633..106810586-chr7:107202578..107204934,3	K562	blood:
7	chr7:106683838..106685682-chr7:106808625..106810626,2	MCF-7	breast:
8	chr7:106806204..106812770-chr7:106813358..106822449,17	MCF-7	breast:
9	chr7:106808400..106812418-chr7:106824330..106827302,6	K562	blood:
10	chr7:106417984..106420983-chr7:106808431..106810561,2	K562	blood:
11	chr7:106808413..106811737-chr7:107382761..107387306,8	K562	blood:
12	chr7:106806529..106812770-chr7:107382455..107386610,12	K562	blood:
13	chr11:67141283..67141790-chr7:106809496..106810341,2	Hela-S3	cervix:
14	chr7:106297795..106302661-chr7:106807374..106810787,5	K562	blood:
15	chr7:106682031..106689663-chr7:106807150..106811711,11	K562	blood:
16	chr1:203691216..203693456-chr7:106809047..106812033,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKAR2B-1	chr7:106810212-106810575	NONHSAT122672

No data

Variant related genes	Relation type
ENSG00000058668	Chromatin interaction
ENSG00000105879	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000228742	Chromatin interaction
ENSG00000164597	Chromatin interaction
ENSG00000005249	Chromatin interaction
ENSG00000196233	Chromatin interaction
ENSG00000177820	Chromatin interaction
ENSG00000253276	Chromatin interaction
ENSG00000105865	Chromatin interaction
ENSG00000105856	Chromatin interaction
ENSG00000241764	Chromatin interaction

Extended variants
information (count: 137 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs1002935	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1018946	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1018947	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10253172	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10253291	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10487271	0.84[ASN][1000 genomes]
rs10953529	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10953530	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10953531	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10953533	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10953534	0.83[ASN][1000 genomes]
rs10953535	0.84[ASN][1000 genomes]
rs1121312	0.83[ASN][1000 genomes]
rs11761181	0.84[ASN][1000 genomes]
rs11762152	1.00[ASN][1000 genomes]
rs11764448	0.83[ASN][1000 genomes]
rs11767623	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11769527	0.83[ASN][1000 genomes]
rs11769861	0.83[ASN][1000 genomes]
rs11769901	0.83[ASN][1000 genomes]
rs11773514	0.82[ASN][1000 genomes]
rs12154285	0.83[ASN][1000 genomes]
rs12531187	0.83[ASN][1000 genomes]
rs12532447	0.84[ASN][1000 genomes]
rs12532953	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12532967	0.84[ASN][1000 genomes]
rs12533516	0.84[ASN][1000 genomes]
rs12533767	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12534000	0.83[ASN][1000 genomes]
rs12534676	0.81[ASN][1000 genomes]
rs12536485	0.84[ASN][1000 genomes]
rs12536491	0.84[ASN][1000 genomes]
rs12536574	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536603	0.82[ASN][1000 genomes]
rs12537374	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12537730	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12537733	0.83[ASN][1000 genomes]
rs12540475	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12705405	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1548523	0.81[ASN][1000 genomes]
rs1548524	0.81[ASN][1000 genomes]
rs17349904	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17350182	0.83[ASN][1000 genomes]
rs17427123	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17427158	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17427849	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17428071	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17428126	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17428504	0.83[ASN][1000 genomes]
rs17429118	0.83[ASN][1000 genomes]
rs17429146	0.83[ASN][1000 genomes]
rs1981696	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2023892	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2107318	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2107319	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2189501	0.84[ASN][1000 genomes]
rs2249043	0.81[ASN][1000 genomes]
rs2299422	0.83[ASN][1000 genomes]
rs257371	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs257372	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs257373	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs257375	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs257377	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs257378	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs257379	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs257381	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs257382	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs257385	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs257386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs257387	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2894459	0.83[ASN][1000 genomes]
rs3729876	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3729877	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3779498	0.83[ASN][1000 genomes]
rs3779500	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3801958	0.81[ASN][1000 genomes]
rs3801959	0.83[ASN][1000 genomes]
rs3801963	0.83[ASN][1000 genomes]
rs3801965	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3815148	0.83[ASN][1000 genomes]
rs3823959	0.80[ASN][1000 genomes]
rs3823960	0.80[ASN][1000 genomes]
rs4727670	0.81[AMR][1000 genomes]
rs4727671	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4730223	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4730224	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4730226	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4730227	0.82[ASN][1000 genomes]
rs4730228	0.84[ASN][1000 genomes]
rs4730229	0.83[ASN][1000 genomes]
rs4730231	0.84[ASN][1000 genomes]
rs4730232	0.84[ASN][1000 genomes]
rs57525841	0.83[ASN][1000 genomes]
rs58319984	0.83[ASN][1000 genomes]
rs58663672	0.84[ASN][1000 genomes]
rs59900773	0.84[ASN][1000 genomes]
rs60255281	0.83[ASN][1000 genomes]
rs61014091	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61406169	0.83[ASN][1000 genomes]
rs61511581	0.83[ASN][1000 genomes]
rs61673847	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6466160	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6466162	0.83[ASN][1000 genomes]
rs6946036	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6946931	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6947675	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6947857	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6949961	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6951639	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6960148	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6960813	0.83[ASN][1000 genomes]
rs6963917	0.84[ASN][1000 genomes]
rs6964798	0.84[ASN][1000 genomes]
rs6964966	0.84[ASN][1000 genomes]
rs6965001	0.84[ASN][1000 genomes]
rs6967745	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6971675	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6971774	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6977868	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7777976	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7779062	0.84[ASN][1000 genomes]
rs7781947	0.83[ASN][1000 genomes]
rs7783181	0.84[ASN][1000 genomes]
rs7783562	0.81[ASN][1000 genomes]
rs7789500	0.82[ASN][1000 genomes]
rs7789678	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7793594	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7794915	0.84[ASN][1000 genomes]
rs7794965	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7798223	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7800443	0.83[ASN][1000 genomes]
rs7803290	0.84[ASN][1000 genomes]
rs7981	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9641378	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs997311	0.84[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
rs4730222	GPR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106807000-106811400	Active TSS	NHLF	lung
2	chr7:106807200-106811000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:106807200-106811000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:106807400-106810600	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr7:106807400-106810600	Active TSS	NHEK	skin
6	chr7:106807400-106811000	Active TSS	A549	lung
7	chr7:106807400-106811200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:106807400-106811200	Active TSS	Fetal Intestine Large	intestine
9	chr7:106807400-106811400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:106807600-106810400	Active TSS	Fetal Lung	lung
11	chr7:106807600-106810600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:106807600-106810600	Active TSS	Liver	Liver
13	chr7:106807600-106810600	Active TSS	Duodenum Mucosa	Duodenum
14	chr7:106807600-106810600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr7:106807600-106810800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:106807600-106810800	Active TSS	Brain Anterior Caudate	brain
17	chr7:106807600-106810800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr7:106807600-106810800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr7:106807600-106810800	Active TSS	Fetal Muscle Leg	muscle
20	chr7:106807600-106810800	Active TSS	Fetal Stomach	stomach
21	chr7:106807600-106810800	Active TSS	Hela-S3	cervix
22	chr7:106807600-106811000	Active TSS	HMEC	breast
23	chr7:106807600-106811200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:106807600-106811200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr7:106807600-106811200	Active TSS	Fetal Kidney	kidney
26	chr7:106807600-106811200	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr7:106807600-106811400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr7:106807600-106811400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:106807600-106811400	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr7:106807600-106811400	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr7:106807600-106811400	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr7:106807600-106811400	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr7:106807600-106811400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:106807600-106811400	Active TSS	NHDF-Ad	bronchial
35	chr7:106807600-106812000	Active TSS	K562	blood
36	chr7:106807800-106810600	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr7:106807800-106810600	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr7:106807800-106810600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:106807800-106810800	Active TSS	Brain Cingulate Gyrus	brain
40	chr7:106807800-106810800	Active TSS	Brain Substantia Nigra	brain
41	chr7:106807800-106810800	Active TSS	Fetal Intestine Small	intestine
42	chr7:106807800-106810800	Active TSS	Placenta Amnion	Placenta Amnion
43	chr7:106807800-106810800	Active TSS	Rectal Smooth Muscle	rectum
44	chr7:106807800-106810800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr7:106807800-106810800	Active TSS	HSMM	muscle
46	chr7:106807800-106811000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr7:106807800-106811000	Active TSS	Brain Hippocampus Middle	brain
48	chr7:106807800-106811000	Active TSS	Fetal Muscle Trunk	muscle
49	chr7:106807800-106811200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:106807800-106811200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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