Variant report

Variant	rs12750686
Chromosome Location	chr1:186406660-186406661
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	chr1:186406204..186407888-chr1:186423532..186426225,2	K562	blood:
2	chr1:186405476..186407528-chr1:186408625..186410578,2	MCF-7	breast:

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

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]
rs11799811	0.83[AFR][1000 genomes]
rs11799843	0.83[AFR][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];0.85[ASN][1000 genomes]
rs11801527	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11801617	0.81[EUR][1000 genomes]
rs11802705	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11803944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11803969	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11804161	0.84[AMR][1000 genomes]
rs11804785	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11805289	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11805597	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11806017	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11806068	0.83[AFR][1000 genomes]
rs11806304	0.83[AFR][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]
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[AFR][1000 genomes]
rs11812050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[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	0.81[ASN][1000 genomes]
rs12747113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12747991	0.90[AMR][1000 genomes]
rs12752376	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12753223	0.85[AMR][1000 genomes]
rs12754662	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16825361	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16825403	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16825434	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16825473	0.97[AMR][1000 genomes];0.90[EUR][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]
rs1919194	0.83[AFR][1000 genomes]
rs2008704	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[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]
rs2273774	1.00[AFR][1000 genomes]
rs2293569	0.83[AFR][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];0.85[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];0.85[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]
rs34467087	0.81[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];0.83[ASN][1000 genomes]
rs34858233	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35131069	0.83[AFR][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[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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];0.85[ASN][1000 genomes]
rs35942197	0.83[AFR][1000 genomes]
rs35945739	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[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	1.00[AFR][1000 genomes]
rs3901243	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3933210	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[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]
rs58626385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[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]
rs71634159	0.83[AFR][1000 genomes]
rs71634161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71634164	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71634167	0.93[AMR][1000 genomes];0.87[EUR][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186388600-186408000	Weak transcription	Fetal Brain Female	brain
2	chr1:186388600-186411600	Weak transcription	A549	lung
3	chr1:186388600-186417400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:186388800-186409400	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:186388800-186409400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:186389000-186413000	Weak transcription	Brain Substantia Nigra	brain
7	chr1:186389600-186406800	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:186389600-186407600	Weak transcription	Aorta	Aorta
9	chr1:186389600-186407800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:186389600-186409200	Weak transcription	HUVEC	blood vessel
11	chr1:186389600-186411600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:186389600-186415600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:186389800-186409000	Weak transcription	Hela-S3	cervix
14	chr1:186389800-186411400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:186390800-186411600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:186394000-186414400	Weak transcription	HSMM	muscle
17	chr1:186394600-186414600	Weak transcription	Primary T cells from cord blood	blood
18	chr1:186395200-186406800	Weak transcription	Fetal Brain Male	brain
19	chr1:186395600-186407800	Weak transcription	Psoas Muscle	Psoas
20	chr1:186395600-186413400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:186395800-186407200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:186397200-186408200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:186398800-186411600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:186404200-186431400	Weak transcription	GM12878-XiMat	blood
25	chr1:186404800-186407600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr1:186404800-186407600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:186406000-186407600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:186406000-186414600	Weak transcription	Right Ventricle	heart
29	chr1:186406200-186410800	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:186406400-186408200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:186406400-186411600	Weak transcription	Liver	Liver
32	chr1:186406400-186411800	Weak transcription	Brain Anterior Caudate	brain
33	chr1:186406600-186421000	Weak transcription	Left Ventricle	heart
34	chr1:186406600-186450000	Weak transcription	Brain Angular Gyrus	brain

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