Variant report

Variant	rs257385
Chromosome Location	chr7:106807448-106807449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr7:106807305-106807726	GM12878	blood:	n/a	n/a
2	MXI1	chr7:106807050-106811306	SK-N-SH	brain:	n/a	n/a
3	ZNF384	chr7:106807175-106809570	K562	blood:	n/a	n/a
4	YY1	chr7:106807443-106808504	SK-N-SH	brain:	n/a	chr7:106808212-106808224 chr7:106808215-106808224

No data

(count:14 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
HBP1	TF binding region
ENSG00000105856	Chromatin interaction
ENSG00000243797	Chromatin interaction
ENSG00000005249	Chromatin interaction
ENSG00000105879	Chromatin interaction
ENSG00000253276	Chromatin interaction
ENSG00000228742	Chromatin interaction
ENSG00000241764	Chromatin interaction
ENSG00000177820	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];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253291	0.91[AMR][1000 genomes];0.93[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];0.94[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];0.84[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];0.94[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];0.94[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];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257372	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257373	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257375	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257377	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257379	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257381	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257382	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257386	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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28610544	0.81[ASN][1000 genomes]
rs3729876	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3729877	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752645	0.81[ASN][1000 genomes]
rs3779500	0.98[AMR][1000 genomes];0.94[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];0.97[EUR][1000 genomes]
rs4730223	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4730224	0.91[AMR][1000 genomes]
rs4730226	0.82[AMR][1000 genomes]
rs61014091	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61673847	0.82[AMR][1000 genomes]
rs6466160	0.98[AMR][1000 genomes];0.93[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];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947675	0.91[AMR][1000 genomes]
rs6947857	1.00[AMR][1000 genomes];0.93[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]
rs6960148	1.00[AMR][1000 genomes];0.93[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];0.92[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
rs257385	GPR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:70 , 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	chr7:106783600-106807600	Weak transcription	Fetal Stomach	stomach
8	chr7:106785400-106808000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:106785800-106807600	Weak transcription	Fetal Kidney	kidney
10	chr7:106788000-106808000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:106788200-106807600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:106788400-106808000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:106788800-106807600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:106788800-106807800	Weak transcription	Ovary	ovary
15	chr7:106789400-106808200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:106791000-106807600	Weak transcription	Brain Anterior Caudate	brain
17	chr7:106791200-106807800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:106792200-106808400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:106794000-106808200	Weak transcription	Left Ventricle	heart
20	chr7:106795600-106808400	Weak transcription	Gastric	stomach
21	chr7:106797800-106807600	Weak transcription	Fetal Brain Female	brain
22	chr7:106800200-106807800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr7:106802200-106807800	Weak transcription	Fetal Brain Male	brain
24	chr7:106802800-106807600	Enhancers	Hela-S3	cervix
25	chr7:106805000-106807600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:106806000-106807800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:106806000-106807800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr7:106806200-106807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:106806200-106807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:106806200-106807800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:106806400-106807600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:106806400-106807600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:106806400-106807600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:106806400-106807800	Weak transcription	Fetal Intestine Small	intestine
35	chr7:106806600-106807600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:106806600-106807600	Enhancers	Dnd41	blood
37	chr7:106806800-106807600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:106807000-106807600	Enhancers	Primary T cells from cord blood	blood
39	chr7:106807000-106807600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr7:106807000-106807600	Weak transcription	K562	blood
41	chr7:106807000-106807800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:106807000-106811400	Active TSS	NHLF	lung
43	chr7:106807200-106807600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:106807200-106807600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:106807200-106807600	Enhancers	Primary B cells from cord blood	blood
46	chr7:106807200-106807600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:106807200-106807600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr7:106807200-106807600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr7:106807200-106807600	Enhancers	Fetal Lung	lung
50	chr7:106807200-106807600	Enhancers	HMEC	breast

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