Variant report

Variant	rs257386
Chromosome Location	chr7:106807783-106807784
allele	C/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	YY1	chr7:106807509-106810741	SK-N-SH	brain:	n/a	chr7:106808513-106808522 chr7:106808516-106808525 chr7:106808212-106808224 chr7:106808513-106808524 chr7:106808215-106808224 chr7:106808510-106808524
2	POLR2A	chr7:106807663-106811034	MCF10A-Er-Src	breast:	n/a	n/a
3	CHD1	chr7:106807732-106809098	H1-hESC	embryonic stem cell:	n/a	n/a
4	PML	chr7:106807698-106809726	K562	blood:	n/a	chr7:106808260-106808269
5	CREB1	chr7:106807623-106810803	K562	blood:	n/a	n/a
6	NR2F2	chr7:106807614-106810766	K562	blood:	n/a	n/a
7	JUN	chr7:106807720-106811363	K562	blood:	n/a	chr7:106808262-106808270 chr7:106808259-106808267 chr7:106809303-106809312 chr7:106808369-106808377
8	FOS	chr7:106807475-106808617	MCF10A-Er-Src	breast:	n/a	chr7:106808262-106808270 chr7:106808259-106808267 chr7:106808260-106808271 chr7:106807647-106807655 chr7:106807646-106807656 chr7:106808369-106808377
9	POLR2A	chr7:106807656-106811321	MCF10A-Er-Src	breast:	n/a	n/a
10	RCOR1	chr7:106807722-106807834	Hela-S3	cervix:	n/a	n/a
11	MYC	chr7:106807622-106807822	MCF10A-Er-Src	breast:	n/a	n/a
12	CHD1	chr7:106807682-106811115	IMR90	lung:	n/a	n/a
13	MXI1	chr7:106807050-106811306	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr7:106807719-106810834	PFSK-1	brain:	n/a	n/a
15	ZNF384	chr7:106807175-106809570	K562	blood:	n/a	n/a
16	TBP	chr7:106807727-106809639	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:106807584-106810968	Hela-S3	cervix:	n/a	n/a
18	YY1	chr7:106807443-106808504	SK-N-SH	brain:	n/a	chr7:106808212-106808224 chr7:106808215-106808224
19	CTCF	chr7:106807680-106807830	NHDF-neo	bronchial:	n/a	n/a
20	JUN	chr7:106807568-106808556	K562	blood:	n/a	chr7:106808262-106808270 chr7:106808259-106808267 chr7:106807647-106807655 chr7:106807646-106807656 chr7:106808369-106808377

No.	Distal block	Cell Line	Cell type
1	chr7:106591850..106595766-chr7:106806509..106808675,4	K562	blood:
2	chr7:106807584..106809378-chr7:106851655..106853238,2	K562	blood:
3	chr7:106682746..106686911-chr7:106807556..106811745,9	K562	blood:
4	chr7:106412910..106416228-chr7:106805514..106807981,4	K562	blood:
5	chr7:106587044..106590672-chr7:106806142..106809067,3	K562	blood:
6	chr7:106412910..106417257-chr7:106805514..106810432,10	K562	blood:
7	chr7:106806268..106809018-chr7:106828300..106829930,2	MCF-7	breast:
8	chr7:106418119..106420518-chr7:106807575..106809396,2	K562	blood:
9	chr7:106806204..106812770-chr7:106813358..106822449,17	MCF-7	breast:
10	chr7:106645322..106647719-chr7:106805775..106808975,3	K562	blood:
11	chr7:106408124..106411629-chr7:106805648..106808816,3	K562	blood:
12	chr7:106806529..106812770-chr7:107382455..107386610,12	K562	blood:
13	chr7:106297795..106302661-chr7:106807374..106810787,5	K562	blood:
14	chr7:106682031..106689663-chr7:106807150..106811711,11	K562	blood:
15	chr7:106592976..106594639-chr7:106806509..106808050,2	K562	blood:
16	chr7:106806710..106808917-chr7:107066397..107068811,2	K562	blood:
17	chr7:106805150..106808091-chr7:106837685..106839409,2	K562	blood:

Variant related genes	Relation type
HBP1	TF binding region
ENSG00000243797	Chromatin interaction
ENSG00000253276	Chromatin interaction
ENSG00000105879	Chromatin interaction
ENSG00000228742	Chromatin interaction
ENSG00000105856	Chromatin interaction
ENSG00000005249	Chromatin interaction
ENSG00000177820	Chromatin interaction
ENSG00000241764	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1002935	0.91[AMR][1000 genomes]
rs1018946	0.91[AMR][1000 genomes]
rs1018947	0.91[AMR][1000 genomes]
rs10253172	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253291	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261881	0.81[ASN][1000 genomes]
rs10953529	0.85[AMR][1000 genomes]
rs10953530	0.91[AMR][1000 genomes]
rs10953531	0.91[AMR][1000 genomes]
rs10953533	0.80[AMR][1000 genomes]
rs11509187	0.81[ASN][1000 genomes]
rs11767623	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12055946	0.81[ASN][1000 genomes]
rs12532953	0.91[AMR][1000 genomes]
rs12533767	0.91[AMR][1000 genomes]
rs12536574	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12537374	0.82[AMR][1000 genomes]
rs12537730	0.91[AMR][1000 genomes]
rs12540475	0.82[AMR][1000 genomes]
rs12705405	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705406	0.89[AFR][1000 genomes]
rs17153861	0.81[ASN][1000 genomes]
rs17341680	0.81[ASN][1000 genomes]
rs17349904	0.82[AMR][1000 genomes]
rs17427123	0.91[AMR][1000 genomes]
rs17427158	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17427849	0.91[AMR][1000 genomes]
rs17428071	0.82[AMR][1000 genomes]
rs17428126	0.82[AMR][1000 genomes]
rs1981696	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2023892	0.91[AMR][1000 genomes]
rs2107318	0.91[AMR][1000 genomes]
rs2107319	0.85[AMR][1000 genomes]
rs2191917	0.81[ASN][1000 genomes]
rs257371	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257372	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257373	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257375	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257377	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257379	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257381	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257382	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257387	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28610544	0.81[ASN][1000 genomes]
rs3729876	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3729877	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752645	0.81[ASN][1000 genomes]
rs3779500	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801965	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4727670	0.81[AMR][1000 genomes]
rs4727671	0.82[AMR][1000 genomes]
rs4730222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730223	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4730224	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4730226	0.82[AMR][1000 genomes]
rs61014091	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61673847	0.82[AMR][1000 genomes]
rs6466160	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946036	0.91[AMR][1000 genomes]
rs6946931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947675	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6947857	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949961	0.91[AMR][1000 genomes]
rs6951639	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6960148	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6960708	0.81[ASN][1000 genomes]
rs6967745	0.91[AMR][1000 genomes]
rs6971393	0.81[ASN][1000 genomes]
rs6971675	0.91[AMR][1000 genomes]
rs6971774	0.89[AMR][1000 genomes]
rs6977868	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978486	0.81[ASN][1000 genomes]
rs7777976	0.82[AMR][1000 genomes]
rs7789678	0.84[AMR][1000 genomes]
rs7793594	0.82[AMR][1000 genomes]
rs7794965	0.91[AMR][1000 genomes]
rs7798223	0.91[AMR][1000 genomes]
rs7981	0.91[AMR][1000 genomes]
rs8180787	0.81[ASN][1000 genomes]
rs9641378	0.85[AMR][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
rs257386	GPR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106760400-106808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:106763000-106807800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:106778400-106807800	Weak transcription	Brain Germinal Matrix	brain
4	chr7:106780000-106807800	Weak transcription	Fetal Heart	heart
5	chr7:106782600-106808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:106782800-106807800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:106785400-106808000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:106788000-106808000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:106788400-106808000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:106788800-106807800	Weak transcription	Ovary	ovary
11	chr7:106789400-106808200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:106791200-106807800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:106792200-106808400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:106794000-106808200	Weak transcription	Left Ventricle	heart
15	chr7:106795600-106808400	Weak transcription	Gastric	stomach
16	chr7:106800200-106807800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:106802200-106807800	Weak transcription	Fetal Brain Male	brain
18	chr7:106806000-106807800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:106806000-106807800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:106806200-106807800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:106806400-106807800	Weak transcription	Fetal Intestine Small	intestine
22	chr7:106807000-106807800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:106807000-106811400	Active TSS	NHLF	lung
24	chr7:106807200-106807800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr7:106807200-106807800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:106807200-106808400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:106807200-106811000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:106807200-106811000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:106807400-106807800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr7:106807400-106807800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:106807400-106807800	Flanking Active TSS	HUVEC	blood vessel
32	chr7:106807400-106808000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr7:106807400-106808200	Active TSS	HepG2	liver
34	chr7:106807400-106808400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:106807400-106810600	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr7:106807400-106810600	Active TSS	NHEK	skin
37	chr7:106807400-106811000	Active TSS	A549	lung
38	chr7:106807400-106811200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:106807400-106811200	Active TSS	Fetal Intestine Large	intestine
40	chr7:106807400-106811400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:106807600-106807800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:106807600-106807800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr7:106807600-106807800	Enhancers	Primary B cells from peripheral blood	blood
44	chr7:106807600-106807800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr7:106807600-106807800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr7:106807600-106807800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr7:106807600-106807800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr7:106807600-106807800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:106807600-106807800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:106807600-106807800	Enhancers	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links