Variant report

Variant	rs2807971
Chromosome Location	chr10:22262372-22262373
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:21814767..21816695-chr10:22261629..22263190,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10508639	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10764330	0.95[CEU][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10828266	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap]
rs10828283	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1086896	0.84[EUR][1000 genomes]
rs1086899	0.85[CEU][hapmap]
rs11012794	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap]
rs11012840	0.83[EUR][1000 genomes]
rs12571634	1.00[CEU][hapmap];0.89[GIH][hapmap];0.83[EUR][1000 genomes]
rs2066270	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs2066271	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs2457954	0.83[CEU][hapmap]
rs2487512	0.85[CEU][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs2666750	0.85[CEU][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs2666753	0.80[TSI][hapmap]
rs2666754	0.85[CEU][hapmap]
rs2666756	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2666757	0.89[CEU][hapmap]
rs2666759	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2666760	0.81[CEU][hapmap];0.82[MEX][hapmap];0.87[EUR][1000 genomes]
rs2666761	0.80[EUR][1000 genomes]
rs2666762	0.85[EUR][1000 genomes]
rs2666768	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2666769	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs2666771	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs2666772	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[EUR][1000 genomes]
rs2666775	1.00[CEU][hapmap];0.89[GIH][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2666776	0.90[CEU][hapmap]
rs2666779	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs2666781	0.87[EUR][1000 genomes]
rs2666782	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs2807968	0.84[CEU][hapmap]
rs2807977	1.00[CHB][hapmap]
rs2807978	0.85[CEU][hapmap]
rs2807979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2807980	0.81[EUR][1000 genomes]
rs2807982	0.80[CEU][hapmap];0.85[EUR][1000 genomes]
rs2807983	0.85[CEU][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs2807984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2807985	0.95[CEU][hapmap];0.81[GIH][hapmap];0.82[EUR][1000 genomes]
rs2807986	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs2807987	1.00[CEU][hapmap];0.89[GIH][hapmap];0.84[EUR][1000 genomes]
rs2807988	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs2859622	0.90[CEU][hapmap]
rs2986336	1.00[CHB][hapmap]
rs2998360	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[EUR][1000 genomes]
rs3951780	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap]
rs4024198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs4146689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4364959	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs4748775	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4748776	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs4748777	0.93[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4748778	0.88[EUR][1000 genomes]
rs4748779	1.00[CEU][hapmap];0.93[GIH][hapmap];0.83[EUR][1000 genomes]
rs6650129	0.81[CEU][hapmap]
rs6650130	0.81[CEU][hapmap]
rs7082663	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap]
rs7089656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs792453	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[TSI][hapmap]
rs792454	0.87[ASN][1000 genomes]
rs792455	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs792456	0.84[CEU][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs806774	0.95[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802317	chr10:21866085-22288132	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv1793816	chr10:22088054-22285371	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1048924	chr10:22177164-22296409	Enhancers Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv831808	chr10:22187850-22357814	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv894949	chr10:22241988-22264558	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2807971	MLLT10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22250800-22264400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr10:22254400-22264400	Weak transcription	Fetal Lung	lung
3	chr10:22256800-22269000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr10:22257000-22270600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:22258800-22267200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:22259000-22262400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr10:22259600-22264200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr10:22259600-22264400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:22259800-22266400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:22260600-22273800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr10:22261600-22262400	Enhancers	Brain Anterior Caudate	brain
12	chr10:22261600-22262400	Enhancers	Brain Substantia Nigra	brain
13	chr10:22261800-22269200	Weak transcription	Colon Smooth Muscle	Colon
14	chr10:22262000-22267200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:22262000-22270000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:22262000-22274800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:22262200-22262400	Enhancers	GM12878-XiMat	blood

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