Variant report

Variant	rs58626385
Chromosome Location	chr1:186409759-186409760
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186374114..186376141-chr1:186408577..186410656,2	MCF-7	breast:
2	chr1:186405476..186407528-chr1:186408625..186410578,2	MCF-7	breast:

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10489397	0.82[AMR][1000 genomes]
rs1108635	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11799322	0.85[AMR][1000 genomes]
rs11800288	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11800338	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11800651	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11801527	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11801617	0.81[EUR][1000 genomes]
rs11802705	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11803944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11803969	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11804161	0.84[AMR][1000 genomes]
rs11804785	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11805289	0.85[ASN][1000 genomes]
rs11805302	0.82[ASN][1000 genomes]
rs11805597	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11806017	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11806304	0.83[ASN][1000 genomes]
rs11806329	0.85[AMR][1000 genomes]
rs11806663	0.85[AMR][1000 genomes]
rs11806701	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11807318	0.84[AMR][1000 genomes]
rs11807443	0.85[AMR][1000 genomes]
rs11807927	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11808643	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11808900	0.82[AMR][1000 genomes]
rs11809402	0.83[ASN][1000 genomes]
rs11810534	0.82[AMR][1000 genomes]
rs11811259	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11811260	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11811320	0.83[ASN][1000 genomes]
rs11812050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402521	0.80[ASN][1000 genomes]
rs12723621	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12726528	0.90[AMR][1000 genomes]
rs12726764	0.90[AMR][1000 genomes]
rs12731288	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12731687	0.81[AMR][1000 genomes]
rs12739006	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12739643	0.81[AMR][1000 genomes]
rs12742751	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12747113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12747991	0.90[AMR][1000 genomes]
rs12750686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12752376	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12753223	0.85[AMR][1000 genomes]
rs12754662	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16825361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16825403	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16825434	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16825473	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16825519	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16825600	0.81[AMR][1000 genomes]
rs1883650	0.82[AMR][1000 genomes]
rs2008704	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2206974	0.90[AMR][1000 genomes]
rs2223783	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2223784	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2383509	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2891249	0.82[AMR][1000 genomes]
rs33963275	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs33996079	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34200789	0.85[AMR][1000 genomes]
rs34228564	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34249733	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34272627	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34310508	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34459464	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34467087	0.84[ASN][1000 genomes]
rs34513409	0.81[EUR][1000 genomes]
rs34578387	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34778311	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34781399	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34858233	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35205448	0.82[AMR][1000 genomes]
rs35206897	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35240980	0.85[AMR][1000 genomes]
rs35326401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35461575	0.82[AMR][1000 genomes]
rs35481005	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35636342	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35868587	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35945739	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36016361	0.85[AMR][1000 genomes]
rs36030781	0.85[AMR][1000 genomes]
rs36053737	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3766698	0.82[ASN][1000 genomes]
rs3901243	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3933210	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4140432	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4140434	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6659683	0.81[ASN][1000 genomes]
rs6672836	0.82[ASN][1000 genomes]
rs6674145	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6678198	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6680055	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6682896	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6683271	0.81[AMR][1000 genomes]
rs71634161	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71634164	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71634167	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71634173	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71634175	0.81[AMR][1000 genomes]
rs71634176	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv1824284	chr1:186358588-186441585	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186388600-186411600	Weak transcription	A549	lung
2	chr1:186388600-186417400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:186389000-186413000	Weak transcription	Brain Substantia Nigra	brain
4	chr1:186389600-186411600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:186389600-186415600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:186389800-186411400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:186390800-186411600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:186394000-186414400	Weak transcription	HSMM	muscle
9	chr1:186394600-186414600	Weak transcription	Primary T cells from cord blood	blood
10	chr1:186395600-186413400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:186398800-186411600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:186404200-186431400	Weak transcription	GM12878-XiMat	blood
13	chr1:186406000-186414600	Weak transcription	Right Ventricle	heart
14	chr1:186406200-186410800	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:186406400-186411600	Weak transcription	Liver	Liver
16	chr1:186406400-186411800	Weak transcription	Brain Anterior Caudate	brain
17	chr1:186406600-186421000	Weak transcription	Left Ventricle	heart
18	chr1:186406600-186450000	Weak transcription	Brain Angular Gyrus	brain
19	chr1:186408200-186411400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:186408400-186410200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:186408600-186409800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:186409000-186413400	Enhancers	Hela-S3	cervix
23	chr1:186409200-186410200	Enhancers	NHEK	skin
24	chr1:186409200-186410400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:186409200-186411600	Enhancers	HUVEC	blood vessel
26	chr1:186409400-186410000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:186409400-186410000	Enhancers	NH-A	brain
28	chr1:186409400-186410200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr1:186409400-186410400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:186409400-186410800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr1:186409600-186410000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:186409600-186410000	Enhancers	Fetal Lung	lung
33	chr1:186409600-186410000	Enhancers	HMEC	breast

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