Variant report

Variant	rs7126838
Chromosome Location	chr11:71826237-71826238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr11:71826055-71826281	GM12878	blood:	n/a	n/a
2	STAT3	chr11:71826151-71826368	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71821479..71826547-chr11:71844956..71851162,6	K562	blood:

Variant related genes	Relation type
ANAPC15	TF binding region
ENSG00000110203	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10128658	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10736786	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10751190	0.81[EUR][1000 genomes]
rs10751193	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10793016	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10898814	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10898817	0.80[ASN][1000 genomes]
rs11235440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272213	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12283462	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293885	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1573500	0.84[ASN][1000 genomes]
rs1573502	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17161966	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17161980	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17161991	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1791544	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1806778	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892919	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1892921	0.81[EUR][1000 genomes]
rs1894003	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1939242	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1939243	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1939245	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1939247	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2250866	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2298456	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2511074	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511075	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511076	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2511078	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511079	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511114	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511116	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2511121	0.84[ASN][1000 genomes]
rs2511122	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2845857	0.85[EUR][1000 genomes]
rs28504107	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018301	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3018304	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3018308	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3133230	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133233	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3750908	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3793938	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814721	0.81[EUR][1000 genomes]
rs4338555	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs482013	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs493065	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4943821	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944258	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944259	0.85[ASN][1000 genomes]
rs4945426	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4945434	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4945435	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs495567	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs510925	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs517837	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs541022	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs542752	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs547208	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs548961	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs552966	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs560777	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57025151	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs585228	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58991229	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs597513	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs598835	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs607446	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs610004	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs610041	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs615000	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs627329	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs636946	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs642573	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs642618	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs656640	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592453	0.81[EUR][1000 genomes]
rs6592455	0.81[EUR][1000 genomes]
rs6592458	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6592459	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs659513	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs670802	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs671681	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs673478	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs675185	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs676721	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs677279	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs678193	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs679926	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7101701	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7113549	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116188	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116495	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7121260	0.81[EUR][1000 genomes]
rs7123102	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124000	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7127865	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7128317	0.81[EUR][1000 genomes]
rs7128974	0.81[EUR][1000 genomes]
rs73531952	0.81[EUR][1000 genomes]
rs73539529	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73539532	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73543609	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73543633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7480015	0.83[ASN][1000 genomes]
rs7930142	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930544	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930721	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930722	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7937515	0.89[ASN][1000 genomes]
rs7937582	0.86[ASN][1000 genomes]
rs7949480	0.81[EUR][1000 genomes]
rs949325	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7126838	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71823800-71826600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:71824200-71827200	Enhancers	NHDF-Ad	bronchial
3	chr11:71824400-71827400	Enhancers	HMEC	breast
4	chr11:71824600-71828400	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:71824600-71829000	Weak transcription	Right Atrium	heart
6	chr11:71824600-71829400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:71824600-71829400	Weak transcription	Stomach Mucosa	stomach
8	chr11:71824600-71829800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr11:71824600-71830200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:71824800-71826800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr11:71824800-71829400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:71824800-71830000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:71824800-71834600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:71825200-71829400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:71825400-71826400	Flanking Active TSS	NHEK	skin
16	chr11:71825400-71826800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:71825800-71826400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:71825800-71827000	Weak transcription	Hela-S3	cervix
19	chr11:71825800-71827000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr11:71826000-71826400	Flanking Active TSS	Osteobl	bone
21	chr11:71826000-71827000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:71826000-71830400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:71826000-71830600	Enhancers	K562	blood

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