Variant report

Variant	rs7011225
Chromosome Location	chr8:52718434-52718435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226748725..226749517-chr8:52717968..52718765,2	MCF-7	breast:

Extended variants
information (count: 160 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs10086351	0.88[ASN][1000 genomes]
rs10086504	0.86[JPT][hapmap]
rs10095651	0.88[ASN][1000 genomes]
rs10095739	0.86[ASN][1000 genomes]
rs10096585	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10096943	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10097328	0.86[JPT][hapmap]
rs10110304	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10112086	0.88[ASN][1000 genomes]
rs1022315	0.88[ASN][1000 genomes]
rs1022316	0.88[ASN][1000 genomes]
rs1022317	0.80[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10435632	0.92[ASN][1000 genomes]
rs10464943	0.99[ASN][1000 genomes]
rs10504128	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10504132	0.86[JPT][hapmap]
rs1059041	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1073371	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1073372	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1078888	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10958298	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10958299	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10958302	0.88[ASN][1000 genomes]
rs10958303	0.88[ASN][1000 genomes]
rs11775601	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11777316	0.91[ASN][1000 genomes]
rs11777386	0.92[ASN][1000 genomes]
rs11777885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11782730	0.92[ASN][1000 genomes]
rs11784921	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11786126	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12334986	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12546934	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12675156	0.88[ASN][1000 genomes]
rs12675404	0.88[ASN][1000 genomes]
rs12676361	0.88[ASN][1000 genomes]
rs12677434	0.90[ASN][1000 genomes]
rs12678479	0.80[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12680771	0.88[ASN][1000 genomes]
rs12680958	0.88[ASN][1000 genomes]
rs12681673	0.88[ASN][1000 genomes]
rs12681867	0.91[ASN][1000 genomes]
rs12682564	0.88[ASN][1000 genomes]
rs13250860	0.80[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13250922	0.96[ASN][1000 genomes]
rs13252580	0.86[ASN][1000 genomes]
rs13254066	0.96[ASN][1000 genomes]
rs13256408	0.88[ASN][1000 genomes]
rs13257067	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13257291	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13257720	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13258269	0.96[ASN][1000 genomes]
rs13261243	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13264242	0.88[ASN][1000 genomes]
rs13265029	0.96[ASN][1000 genomes]
rs13266326	0.91[ASN][1000 genomes]
rs13267846	0.88[ASN][1000 genomes]
rs13268128	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13268907	0.86[ASN][1000 genomes]
rs13268938	0.91[ASN][1000 genomes]
rs13269881	0.86[ASN][1000 genomes]
rs13271572	0.95[ASN][1000 genomes]
rs13272178	0.86[ASN][1000 genomes]
rs13272467	0.92[ASN][1000 genomes]
rs13274160	0.96[ASN][1000 genomes]
rs13275045	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13275235	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13280391	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13280413	0.88[ASN][1000 genomes]
rs13281179	0.86[JPT][hapmap]
rs13340640	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1517304	0.88[ASN][1000 genomes]
rs1517305	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16916810	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16916843	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16916878	0.82[JPT][hapmap]
rs1914370	0.86[ASN][1000 genomes]
rs2395825	0.92[ASN][1000 genomes]
rs2395857	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs28671127	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3763547	1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs3824266	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4259408	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4291261	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4294173	0.80[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4313145	0.92[ASN][1000 genomes]
rs4324911	0.80[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4330683	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4352840	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4361755	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4395889	0.96[ASN][1000 genomes]
rs4401852	0.95[ASN][1000 genomes]
rs4425747	0.97[ASN][1000 genomes]
rs4442135	0.96[ASN][1000 genomes]
rs4487755	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4570148	0.80[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4584139	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4587320	0.80[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4596648	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4612332	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4615560	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4618684	0.80[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4634632	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4642637	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4873206	0.92[ASN][1000 genomes]
rs4873207	0.88[ASN][1000 genomes]
rs4873603	0.99[ASN][1000 genomes]
rs4873604	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4873606	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4873608	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4873610	0.93[ASN][1000 genomes]
rs4873613	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4873616	0.87[ASN][1000 genomes]
rs4873617	0.88[ASN][1000 genomes]
rs5002416	0.80[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs5003717	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6983163	0.91[ASN][1000 genomes]
rs6986984	0.92[ASN][1000 genomes]
rs6990552	0.89[ASN][1000 genomes]
rs6996898	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6999031	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6999321	0.95[ASN][1000 genomes]
rs7008057	0.80[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7010217	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs7011046	0.80[CEU][hapmap];0.86[JPT][hapmap]
rs7012360	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7013587	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7014075	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7017450	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs718250	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7460311	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7463120	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7464192	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7465225	0.80[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs753540	0.80[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs756484	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7818832	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7829408	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7833777	0.91[ASN][1000 genomes]
rs7838816	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs882492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs884580	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs925761	0.91[ASN][1000 genomes]
rs925763	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9298463	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9298464	0.80[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9298465	0.92[ASN][1000 genomes]
rs9298466	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9298467	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs950687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9643466	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9643790	0.91[ASN][1000 genomes]
rs9643791	0.91[ASN][1000 genomes]
rs9643792	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9643793	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
5	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7011225	PCMTD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52708600-52721800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:52714400-52731800	Weak transcription	Thymus	Thymus
3	chr8:52715800-52722600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:52716400-52721600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:52716400-52721600	Weak transcription	Fetal Stomach	stomach
6	chr8:52716600-52721200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:52716600-52728400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:52717600-52720000	Weak transcription	Right Ventricle	heart
9	chr8:52717600-52721800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:52717600-52735200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:52717600-52741800	Weak transcription	Aorta	Aorta
12	chr8:52717800-52719200	Weak transcription	Left Ventricle	heart
13	chr8:52717800-52721600	Weak transcription	Adipose Nuclei	Adipose
14	chr8:52717800-52721800	Weak transcription	Lung	lung
15	chr8:52717800-52721800	Weak transcription	Pancreas	Pancrea
16	chr8:52717800-52733000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:52717800-52734600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:52718000-52734800	Weak transcription	Dnd41	blood
19	chr8:52718400-52722000	Active TSS	Right Atrium	heart

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