Variant report

Variant	rs11801617
Chromosome Location	chr1:186545318-186545319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186488450..186491951-chr1:186545141..186547515,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273198	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10489396	0.91[EUR][1000 genomes]
rs10489397	0.90[EUR][1000 genomes]
rs10911888	0.82[ASN][1000 genomes]
rs10911899	0.82[EUR][1000 genomes]
rs1108635	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11799322	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11800288	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11800338	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11800651	0.81[EUR][1000 genomes]
rs11801527	0.82[EUR][1000 genomes]
rs11802553	0.81[EUR][1000 genomes]
rs11802705	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11803944	0.81[EUR][1000 genomes]
rs11803969	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11804161	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11804785	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11805597	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11806017	0.84[EUR][1000 genomes]
rs11806329	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11806663	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11806701	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11807318	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11807443	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11807927	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11808165	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11808643	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11808900	0.90[EUR][1000 genomes]
rs11809088	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11810534	0.90[EUR][1000 genomes]
rs11811047	0.81[EUR][1000 genomes]
rs11811259	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11811260	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11811335	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11812050	0.81[EUR][1000 genomes]
rs12239058	0.82[EUR][1000 genomes]
rs12723621	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12726528	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12726764	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12731288	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12731687	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12734267	0.81[EUR][1000 genomes]
rs12734420	0.81[EUR][1000 genomes]
rs12739006	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12739643	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12747113	0.81[EUR][1000 genomes]
rs12747991	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12750686	0.81[EUR][1000 genomes]
rs12752376	0.81[EUR][1000 genomes]
rs12753223	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12754662	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16825403	0.84[EUR][1000 genomes]
rs16825434	0.84[EUR][1000 genomes]
rs16825473	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16825519	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16825600	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16825639	0.82[EUR][1000 genomes]
rs16825646	0.82[EUR][1000 genomes]
rs16825671	0.81[EUR][1000 genomes]
rs16825681	0.81[EUR][1000 genomes]
rs16825687	0.81[EUR][1000 genomes]
rs1883650	0.90[EUR][1000 genomes]
rs1883651	0.81[EUR][1000 genomes]
rs1883652	0.82[EUR][1000 genomes]
rs2008704	0.84[EUR][1000 genomes]
rs2206974	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2223783	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2223784	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2383509	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2383512	0.89[EUR][1000 genomes]
rs2383513	0.91[EUR][1000 genomes]
rs2383514	0.91[EUR][1000 genomes]
rs2891249	0.90[EUR][1000 genomes]
rs33963275	0.84[EUR][1000 genomes]
rs33996079	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34200789	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34228564	0.84[EUR][1000 genomes]
rs34249733	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34272627	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34310508	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34365031	0.82[EUR][1000 genomes]
rs34459464	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34513409	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34578387	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34778311	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34781399	0.84[EUR][1000 genomes]
rs34783173	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34858233	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35205448	0.90[EUR][1000 genomes]
rs35206897	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35240980	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35326401	0.81[EUR][1000 genomes]
rs35461575	0.90[EUR][1000 genomes]
rs35481005	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35636342	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35868587	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35945739	0.84[EUR][1000 genomes]
rs36016361	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36030781	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36053737	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3901243	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3933210	0.84[EUR][1000 genomes]
rs4140432	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4140434	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4511065	0.82[EUR][1000 genomes]
rs58626385	0.81[EUR][1000 genomes]
rs59547074	0.80[ASN][1000 genomes]
rs6425035	0.82[ASN][1000 genomes]
rs6674145	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6677346	0.82[ASN][1000 genomes]
rs6678198	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6680055	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6682896	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6683271	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71516963	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71634161	0.81[EUR][1000 genomes]
rs71634164	0.84[EUR][1000 genomes]
rs71634167	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71634173	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71634175	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71634176	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71634178	0.82[EUR][1000 genomes]
rs71634179	0.82[EUR][1000 genomes]
rs71634186	0.81[EUR][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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
5	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186541000-186546200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:186543600-186545800	Enhancers	HUVEC	blood vessel
3	chr1:186544000-186545400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:186544000-186546400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:186544200-186545400	Enhancers	Hela-S3	cervix
6	chr1:186544200-186545400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr1:186544200-186545800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:186544200-186546200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:186544400-186545400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:186544400-186545400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:186544400-186545400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:186544600-186545400	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:186544600-186546400	Enhancers	Adipose Nuclei	Adipose
14	chr1:186544800-186546400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:186545000-186546200	Weak transcription	HMEC	breast
16	chr1:186545200-186546000	Enhancers	Gastric	stomach
17	chr1:186545200-186546200	Weak transcription	Rectal Mucosa Donor 31	rectum

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