Variant report

Variant	rs60054591
Chromosome Location	chr11:71825687-71825688
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	POLR2A	chr11:71825687-71825711	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71749172..71754555-chr11:71820034..71825981,11	MCF-7	breast:
2	chr11:71821479..71826547-chr11:71844956..71851162,6	K562	blood:
3	chr11:71822132..71825937-chr11:71933388..71938158,5	MCF-7	breast:
4	chr11:71823487..71825907-chr11:71932451..71935590,3	K562	blood:

Variant related genes	Relation type
FOLR3	TF binding region
ANAPC15	TF binding region
ENSG00000137497	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000110203	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10501408	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1057992	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10736780	0.81[ASN][1000 genomes]
rs10736783	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10751188	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10751191	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10751192	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10793011	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10793013	0.81[ASN][1000 genomes]
rs10793014	0.81[ASN][1000 genomes]
rs10793015	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10898812	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235444	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272086	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12275171	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293195	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12417471	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1541304	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1548348	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1573501	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1573503	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17161751	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1892920	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1894004	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2155142	0.81[ASN][1000 genomes]
rs2155145	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2155146	0.84[EUR][1000 genomes]
rs2276384	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2276396	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2503	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2508856	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2508860	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511120	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2735787	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2845860	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2852365	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3018310	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3750907	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829215	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4245463	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4378421	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4387373	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4412771	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4477459	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs482197	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4944243	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4945378	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4945392	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs510925	0.86[AMR][1000 genomes]
rs541228	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56255748	0.81[ASN][1000 genomes]
rs564294	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs567026	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs575831	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs575871	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs577435	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58417942	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595062	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs612255	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs628025	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs645603	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592447	0.81[ASN][1000 genomes]
rs6592456	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6592457	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs661290	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs671132	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs674319	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs686340	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7101553	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7102523	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7106653	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7106730	0.81[ASN][1000 genomes]
rs7111379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7113436	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7113520	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7115513	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7121080	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7126394	0.89[EUR][1000 genomes]
rs73531955	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73543612	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73543635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73543640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924834	0.81[ASN][1000 genomes]
rs7942626	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs949326	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9666346	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[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
rs60054591	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 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	chr11:71824200-71826000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:71824200-71827200	Enhancers	NHDF-Ad	bronchial
4	chr11:71824400-71826000	Enhancers	NHLF	lung
5	chr11:71824400-71826000	Enhancers	Osteobl	bone
6	chr11:71824400-71827400	Enhancers	HMEC	breast
7	chr11:71824600-71825800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:71824600-71828400	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:71824600-71829000	Weak transcription	Right Atrium	heart
10	chr11:71824600-71829400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:71824600-71829400	Weak transcription	Stomach Mucosa	stomach
12	chr11:71824600-71829800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr11:71824600-71830200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:71824800-71825800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:71824800-71825800	Weak transcription	HSMM	muscle
16	chr11:71824800-71826000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:71824800-71826800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:71824800-71829400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:71824800-71830000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:71824800-71834600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:71825000-71826000	Weak transcription	K562	blood
22	chr11:71825200-71829400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:71825400-71826400	Flanking Active TSS	NHEK	skin
24	chr11:71825400-71826800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:71825600-71825800	Enhancers	Colon Smooth Muscle	Colon
26	chr11:71825600-71825800	Enhancers	Hela-S3	cervix
27	chr11:71825600-71825800	Enhancers	Monocytes-CD14+_RO01746	blood

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