Variant report

Variant	rs12293195
Chromosome Location	chr11:71843699-71843700
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	SPI1	chr11:71843579-71844143	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71841111..71843953-chr11:71844443..71847112,3	K562	blood:
2	chr11:71839501..71841685-chr11:71843500..71845444,2	MCF-7	breast:

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

Extended variants
information (count: 150 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs10128658	0.87[CEU][hapmap]
rs10501408	1.00[CEU][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes]
rs1055452	1.00[CEU][hapmap];0.88[YRI][hapmap]
rs1057992	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes]
rs10736783	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[YRI][hapmap];0.89[EUR][1000 genomes]
rs10751188	0.89[EUR][1000 genomes]
rs10751189	0.87[CEU][hapmap]
rs10751191	1.00[CEU][hapmap];0.80[CHB][hapmap];0.88[YRI][hapmap];0.89[EUR][1000 genomes]
rs10751192	0.89[EUR][1000 genomes]
rs10793011	1.00[CEU][hapmap];0.80[CHB][hapmap];0.89[EUR][1000 genomes]
rs10793015	0.89[EUR][1000 genomes]
rs10793016	0.87[CEU][hapmap]
rs10898812	0.89[EUR][1000 genomes]
rs11235440	0.87[CEU][hapmap]
rs11235441	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11235444	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12272086	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12272213	0.87[CEU][hapmap]
rs12275171	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12293885	0.87[CEU][hapmap]
rs12417471	0.81[AMR][1000 genomes]
rs1541304	1.00[CEU][hapmap];0.80[CHB][hapmap];0.89[EUR][1000 genomes]
rs1541306	0.87[CEU][hapmap]
rs1548348	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1573501	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes]
rs1573502	0.87[CEU][hapmap]
rs1573503	0.89[EUR][1000 genomes]
rs17161751	0.89[EUR][1000 genomes]
rs17161966	0.87[CEU][hapmap]
rs17161980	0.87[CEU][hapmap]
rs1892920	1.00[CEU][hapmap];0.80[CHB][hapmap];0.87[YRI][hapmap];0.89[EUR][1000 genomes]
rs1892921	0.87[CEU][hapmap]
rs1894004	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1939242	0.87[CEU][hapmap]
rs1939243	0.87[CEU][hapmap]
rs1939247	0.87[CEU][hapmap]
rs2155145	0.87[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes]
rs2155146	0.84[EUR][1000 genomes]
rs2187496	0.86[CEU][hapmap]
rs2250866	0.87[CEU][hapmap]
rs2276384	1.00[CEU][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes]
rs2276396	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2298456	0.87[CEU][hapmap]
rs2298457	0.87[CEU][hapmap]
rs2503	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes]
rs2508856	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2508860	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2511079	0.87[CEU][hapmap]
rs2511114	0.87[CEU][hapmap]
rs2511120	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2735787	0.89[EUR][1000 genomes]
rs2845860	0.89[EUR][1000 genomes]
rs2852365	0.89[EUR][1000 genomes]
rs3018301	0.87[CEU][hapmap]
rs3018302	0.87[CEU][hapmap]
rs3018310	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3750907	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3750908	0.87[CEU][hapmap]
rs3793938	0.87[CEU][hapmap]
rs3814721	0.87[CEU][hapmap]
rs3829215	0.89[EUR][1000 genomes]
rs4121395	0.87[CEU][hapmap]
rs4245463	0.89[EUR][1000 genomes]
rs4338555	0.87[CEU][hapmap]
rs4378421	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4387373	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4412771	0.85[AMR][1000 genomes]
rs4477459	0.87[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes]
rs482197	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs493065	0.87[CEU][hapmap]
rs4943821	0.87[CEU][hapmap]
rs4944242	0.87[CEU][hapmap]
rs4944243	1.00[CEU][hapmap];0.80[CHB][hapmap];0.88[YRI][hapmap];0.89[EUR][1000 genomes]
rs4945378	1.00[CEU][hapmap];0.80[CHB][hapmap];0.88[YRI][hapmap];0.89[EUR][1000 genomes]
rs4945392	1.00[CEU][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes]
rs4945426	0.87[CEU][hapmap]
rs4945434	0.87[CEU][hapmap]
rs510925	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs541022	0.87[CEU][hapmap]
rs552966	0.87[CEU][hapmap]
rs560777	0.87[CEU][hapmap]
rs564294	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs567026	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs575831	1.00[CEU][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs575871	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs577435	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs579320	0.87[CEU][hapmap]
rs58417942	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs585228	0.87[CEU][hapmap]
rs595062	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60054591	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs607446	0.87[CEU][hapmap]
rs610004	0.87[CEU][hapmap]
rs610041	0.87[CEU][hapmap]
rs612255	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs628025	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs642573	0.87[CEU][hapmap]
rs642618	0.87[CEU][hapmap]
rs645603	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6592448	0.87[CEU][hapmap]
rs6592449	0.87[CEU][hapmap]
rs6592450	0.87[CEU][hapmap]
rs6592451	1.00[CEU][hapmap]
rs6592453	0.87[CEU][hapmap]
rs6592455	0.87[CEU][hapmap]
rs6592456	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs6592457	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes]
rs659513	0.87[CEU][hapmap]
rs661290	1.00[CEU][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs671132	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs671681	0.87[CEU][hapmap]
rs673478	0.87[CEU][hapmap]
rs674319	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs679926	0.87[CEU][hapmap]
rs686340	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7101553	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7102192	0.87[CEU][hapmap]
rs7102523	0.89[EUR][1000 genomes]
rs7103210	0.87[CEU][hapmap]
rs7106653	0.89[EUR][1000 genomes]
rs7106730	1.00[CEU][hapmap]
rs7111379	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7113436	1.00[CEU][hapmap];0.92[YRI][hapmap];0.89[EUR][1000 genomes]
rs7113520	0.89[EUR][1000 genomes]
rs7113549	0.87[CEU][hapmap]
rs7115513	1.00[CEU][hapmap];0.80[CHB][hapmap];0.94[YRI][hapmap];0.89[EUR][1000 genomes]
rs7121080	1.00[CEU][hapmap];0.80[CHB][hapmap];0.88[YRI][hapmap];0.89[EUR][1000 genomes]
rs7121260	0.87[CEU][hapmap]
rs7123992	0.82[CEU][hapmap]
rs7126394	1.00[CEU][hapmap];0.80[CHB][hapmap];0.88[YRI][hapmap];0.89[EUR][1000 genomes]
rs7127865	0.87[CEU][hapmap]
rs7128317	0.87[CEU][hapmap]
rs7128974	0.87[CEU][hapmap]
rs73531955	0.89[EUR][1000 genomes]
rs73543612	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73543635	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73543640	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73543643	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7924834	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs7925411	0.85[CEU][hapmap];0.93[YRI][hapmap]
rs7930142	0.92[YRI][hapmap]
rs7930544	0.87[CEU][hapmap]
rs7931941	0.87[CEU][hapmap]
rs7942626	0.89[EUR][1000 genomes]
rs7948821	0.87[CEU][hapmap]
rs947932	0.87[CEU][hapmap]
rs949323	1.00[CEU][hapmap];0.87[YRI][hapmap]
rs949326	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs9666346	0.83[AMR][1000 genomes];0.89[EUR][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
rs12293195	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71828400-71850800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:71834400-71851000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:71836000-71847000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:71836800-71847000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:71839800-71846600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:71842400-71844000	Enhancers	Primary hematopoietic stem cells	blood
7	chr11:71842400-71845000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:71843400-71843800	Bivalent Enhancer	Primary B cells from cord blood	blood
9	chr11:71843400-71843800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:71843400-71844800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:71843400-71845000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:71843600-71844400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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