Variant report

Variant	rs7245091
Chromosome Location	chr18:43743081-43743082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43737450..43741302-chr18:43741650..43744283,3	MCF-7	breast:
2	chr18:43742896..43745693-chr18:43752944..43755761,3	K562	blood:
3	chr18:43742508..43745434-chr18:43753109..43754767,2	K562	blood:

Variant related genes	Relation type
ENSG00000152242	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs11082512	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs11082514	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11082518	1.00[ASW][hapmap];0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12457740	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12604963	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs12605945	1.00[ASW][hapmap];0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12607898	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12608232	0.86[EUR][1000 genomes]
rs12709736	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12953780	0.85[JPT][hapmap]
rs12962307	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12962951	0.86[EUR][1000 genomes]
rs12963787	0.84[EUR][1000 genomes]
rs12963943	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12967694	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs12969147	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13381496	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13381515	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13381523	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13381525	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13381529	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1791407	0.86[JPT][hapmap]
rs1791413	0.86[JPT][hapmap]
rs1791414	0.86[JPT][hapmap]
rs1808946	0.84[EUR][1000 genomes]
rs36191490	0.87[EUR][1000 genomes]
rs3744858	1.00[ASW][hapmap];0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4274509	0.86[JPT][hapmap]
rs4335852	0.91[EUR][1000 genomes]
rs4453594	0.86[EUR][1000 genomes]
rs4453596	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4542747	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4574015	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs4627465	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4890317	0.86[CEU][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs4890319	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs4890320	0.85[EUR][1000 genomes]
rs4890321	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4890628	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4890629	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4890631	0.84[EUR][1000 genomes]
rs4890632	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4890633	1.00[ASW][hapmap];0.86[CEU][hapmap];0.90[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs4890634	0.82[EUR][1000 genomes]
rs55747741	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62096523	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62096524	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62096525	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62096526	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6507670	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6507675	0.83[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs6507676	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6507677	0.92[EUR][1000 genomes]
rs6507679	0.83[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap]
rs6507680	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6507681	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6507682	0.91[EUR][1000 genomes]
rs6507690	0.85[EUR][1000 genomes]
rs6507691	0.84[EUR][1000 genomes]
rs6507692	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6507693	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs718513	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs718514	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs7227847	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7228365	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs7230154	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs7230995	0.86[EUR][1000 genomes]
rs7231430	0.90[CEU][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs7231820	0.94[ASW][hapmap];0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7234695	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7236687	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7239351	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7240354	0.88[ASN][1000 genomes]
rs7241527	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7241829	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7241983	0.80[ASN][1000 genomes]
rs7242375	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73425119	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7506126	0.83[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs8084309	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8084827	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8084829	0.84[EUR][1000 genomes]
rs8085138	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8086610	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8086956	0.94[ASW][hapmap];0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8090542	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8093407	0.84[EUR][1000 genomes]
rs8094070	0.84[EUR][1000 genomes]
rs8094706	0.94[ASW][hapmap];0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8095142	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8095729	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8095799	0.87[EUR][1000 genomes]
rs8098751	0.84[EUR][1000 genomes]
rs8099202	0.86[CEU][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs9675387	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs9807157	0.81[CEU][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs9944715	0.94[ASW][hapmap];0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9944767	0.81[CEU][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs9944836	0.81[CEU][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs9945783	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9947206	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9948282	0.88[EUR][1000 genomes]
rs9949494	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9951624	0.84[EUR][1000 genomes]
rs9952469	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9952654	0.85[EUR][1000 genomes]
rs9956574	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs9959526	0.83[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap]
rs9959813	0.81[CEU][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.84[EUR][1000 genomes]
rs9959905	0.85[EUR][1000 genomes]
rs9960378	0.85[EUR][1000 genomes]
rs9963153	0.81[CEU][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.84[EUR][1000 genomes]
rs9963843	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs9967229	0.83[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap]

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	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7245091	C18orf25	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43706200-43747800	Weak transcription	Brain Substantia Nigra	brain
2	chr18:43710600-43752800	Weak transcription	Fetal Brain Female	brain
3	chr18:43714000-43748400	Weak transcription	Ovary	ovary
4	chr18:43733200-43753200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr18:43733600-43746200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr18:43733600-43746400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:43733800-43744200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:43733800-43746200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr18:43734200-43746200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr18:43736400-43747800	Weak transcription	Thymus	Thymus
11	chr18:43736800-43746200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr18:43737200-43747800	Weak transcription	Spleen	Spleen
13	chr18:43737200-43749200	Weak transcription	HSMMtube	muscle
14	chr18:43737200-43749400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr18:43737600-43753000	Weak transcription	Fetal Stomach	stomach
16	chr18:43739000-43743800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:43739000-43753200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr18:43740200-43749200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr18:43740600-43749200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr18:43740800-43747800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr18:43741000-43747800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr18:43741000-43747800	Weak transcription	Stomach Mucosa	stomach
23	chr18:43741000-43748000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr18:43741200-43746600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr18:43741200-43746800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr18:43741200-43747800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr18:43741800-43744400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr18:43742000-43743200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr18:43742000-43744000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr18:43742000-43744800	Enhancers	K562	blood
31	chr18:43742000-43748000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr18:43742200-43747800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr18:43742200-43749000	Weak transcription	Hela-S3	cervix
34	chr18:43742400-43745000	Weak transcription	Lung	lung
35	chr18:43742400-43747800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr18:43742400-43747800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr18:43742400-43747800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr18:43743000-43743200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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