Variant report

Variant	rs11748306
Chromosome Location	chr5:100146766-100146767
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:100139903..100141553-chr5:100144664..100147138,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10043056	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10044903	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10052474	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10057237	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10059846	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10069305	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10075853	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078251	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10078934	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10463771	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10463772	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10478598	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478599	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478633	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10515303	0.86[EUR][1000 genomes]
rs11241752	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11241755	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11241794	0.85[EUR][1000 genomes]
rs11584	0.82[EUR][1000 genomes]
rs11738152	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11741369	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11742480	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11742504	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11745097	0.82[ASN][1000 genomes]
rs12153670	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12332145	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332642	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12719316	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13355889	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13357545	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13358325	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13358607	0.82[ASN][1000 genomes]
rs13360613	0.82[ASN][1000 genomes]
rs13436424	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13857	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1541676	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1559058	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1559059	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs157042	0.80[ASN][1000 genomes]
rs157181	0.80[ASN][1000 genomes]
rs17723545	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17724185	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17725452	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17725678	0.82[EUR][1000 genomes]
rs17726346	0.85[EUR][1000 genomes]
rs17778837	0.82[ASN][1000 genomes]
rs17780091	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17780273	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17780471	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17780525	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17782041	0.82[EUR][1000 genomes]
rs1833862	0.82[EUR][1000 genomes]
rs2059845	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2400313	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2544920	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2548256	0.82[EUR][1000 genomes]
rs2548257	0.82[EUR][1000 genomes]
rs2548279	0.81[EUR][1000 genomes]
rs2548280	0.82[EUR][1000 genomes]
rs2725124	0.82[EUR][1000 genomes]
rs276458	0.80[ASN][1000 genomes]
rs276459	0.80[ASN][1000 genomes]
rs276461	0.80[ASN][1000 genomes]
rs277870	0.81[ASN][1000 genomes]
rs28413976	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34564041	0.86[EUR][1000 genomes]
rs3756350	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3756352	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3756353	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3756354	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3756355	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3776155	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3776167	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3776168	0.81[EUR][1000 genomes]
rs3776174	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3822366	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3843478	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846627	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3857365	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3909452	0.92[EUR][1000 genomes]
rs3909453	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4702991	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4703115	0.82[ASN][1000 genomes]
rs4703117	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4703118	0.82[ASN][1000 genomes]
rs4703119	0.82[ASN][1000 genomes]
rs4703126	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4703127	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4703128	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4703131	0.82[EUR][1000 genomes]
rs55805984	0.85[EUR][1000 genomes]
rs55849330	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55861847	0.86[EUR][1000 genomes]
rs55959219	0.82[EUR][1000 genomes]
rs55968003	0.84[EUR][1000 genomes]
rs56165696	0.81[ASN][1000 genomes]
rs56752243	0.86[EUR][1000 genomes]
rs57055845	0.82[ASN][1000 genomes]
rs59490571	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60663279	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6886392	0.82[ASN][1000 genomes]
rs726971	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72776700	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72778607	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72778613	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72778620	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72778635	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72778649	0.85[EUR][1000 genomes]
rs72778650	0.84[EUR][1000 genomes]
rs7447673	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7721627	0.81[ASN][1000 genomes]
rs9327319	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9327323	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9327327	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs966257	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9763775	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv1834675	chr5:100143084-100535029	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11748306	ST8SIA4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100139400-100154400	Weak transcription	Fetal Lung	lung
2	chr5:100139400-100155400	Weak transcription	Placenta	Placenta
3	chr5:100139600-100149200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:100140200-100147000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:100140800-100147200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:100141800-100147000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr5:100142200-100147000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:100142400-100150000	Strong transcription	Dnd41	blood
9	chr5:100142400-100154000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:100142600-100147000	Weak transcription	Primary T cells from cord blood	blood
11	chr5:100142600-100150000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:100143000-100146800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:100143000-100147000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:100143000-100150000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:100143400-100146800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:100143400-100163200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:100143800-100147000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr5:100144400-100148000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr5:100144600-100147000	Weak transcription	Thymus	Thymus
20	chr5:100144600-100147400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr5:100145200-100147000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:100145200-100147000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:100145400-100147000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:100145400-100147400	Weak transcription	Left Ventricle	heart
25	chr5:100145600-100147200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:100145600-100147800	Strong transcription	Fetal Thymus	thymus
27	chr5:100145600-100148400	Weak transcription	HUVEC	blood vessel
28	chr5:100145600-100148600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:100145800-100147000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr5:100145800-100149200	Weak transcription	Brain Germinal Matrix	brain
31	chr5:100145800-100150800	Weak transcription	Adipose Nuclei	Adipose
32	chr5:100145800-100164000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr5:100146000-100148000	ZNF genes & repeats	GM12878-XiMat	blood
34	chr5:100146400-100147800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr5:100146400-100147800	Strong transcription	Primary B cells from cord blood	blood
36	chr5:100146400-100147800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr5:100146400-100147800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr5:100146400-100148200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:100146600-100147800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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