Variant report

Variant	rs2836708
Chromosome Location	chr21:40213685-40213686
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	MYC	chr21:40213373-40213830	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr21:40213462-40213694	MCF10A-Er-Src	breast:	n/a	chr21:40213630-40213639
3	STAT3	chr21:40213357-40213781	MCF10A-Er-Src	breast:	n/a	chr21:40213365-40213388 chr21:40213428-40213435
4	MYC	chr21:40213575-40213743	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr21:40213316-40213796	MCF10A-Er-Src	breast:	n/a	chr21:40213365-40213388 chr21:40213428-40213435
6	FOS	chr21:40213361-40213802	MCF10A-Er-Src	breast:	n/a	chr21:40213630-40213639
7	MAFK	chr21:40213583-40213856	HepG2	liver:	n/a	n/a
8	MAX	chr21:40213660-40213732	NB4	blood:	n/a	n/a
9	CEBPB	chr21:40213583-40213783	K562	blood:	n/a	chr21:40213669-40213682 chr21:40213671-40213680 chr21:40213670-40213681
10	FOS	chr21:40213372-40213758	MCF10A-Er-Src	breast:	n/a	chr21:40213630-40213639
11	POLR2A	chr21:40211696-40213920	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr21:40213318-40213811	MCF10A-Er-Src	breast:	n/a	chr21:40213630-40213639
13	CEBPB	chr21:40213611-40213801	IMR90	lung:	n/a	chr21:40213669-40213682 chr21:40213671-40213680 chr21:40213670-40213681
14	MAFF	chr21:40213638-40213754	HepG2	liver:	n/a	n/a
15	STAT3	chr21:40213372-40213812	MCF10A-Er-Src	breast:	n/a	chr21:40213428-40213435
16	CEBPB	chr21:40213529-40213741	HepG2	liver:	n/a	chr21:40213669-40213682 chr21:40213671-40213680 chr21:40213670-40213681

No.	Distal block	Cell Line	Cell type
1	chr21:40212464..40216526-chr21:40217329..40223088,8	MCF-7	breast:
2	chr21:40180758..40183425-chr21:40212038..40214532,3	K562	blood:
3	chr21:40209482..40212563-chr21:40213470..40216289,3	MCF-7	breast:
4	chr21:40209144..40212226-chr21:40213678..40216387,3	K562	blood:
5	chr21:40190407..40192977-chr21:40211375..40214122,2	MCF-7	breast:
6	chr21:40180448..40182258-chr21:40212420..40214103,2	K562	blood:
7	chr21:40211369..40213824-chr21:40223080..40225148,2	K562	blood:

Variant related genes	Relation type
ENSG00000229986	TF binding region
ENSG00000229986	Chromatin interaction
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1209943	0.81[CEU][hapmap]
rs1534824	0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1534825	0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1534826	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2836696	0.91[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs2836698	0.86[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs2836699	0.92[ASN][1000 genomes]
rs2836701	0.95[CHB][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836702	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836705	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836706	0.91[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836707	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836709	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs460475	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs462776	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs463452	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs467940	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs467985	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs468094	0.83[ASN][1000 genomes]
rs468107	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs468193	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs468331	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs468456	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs468529	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs468837	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs468849	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs469180	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs469303	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs469353	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59427744	0.81[ASN][1000 genomes]
rs7276587	0.90[ASN][1000 genomes]
rs7279564	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283959	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2836708	ETS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40195200-40213800	Weak transcription	Fetal Kidney	kidney
2	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
3	chr21:40203800-40225200	Weak transcription	Psoas Muscle	Psoas
4	chr21:40210000-40214000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr21:40210000-40214000	Enhancers	NHEK	skin
6	chr21:40210000-40214200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:40210000-40214200	Enhancers	HMEC	breast
8	chr21:40210200-40213800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr21:40212000-40213800	Weak transcription	Fetal Stomach	stomach
10	chr21:40212200-40213800	Enhancers	Hela-S3	cervix
11	chr21:40212200-40215400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr21:40212200-40215400	Weak transcription	HSMMtube	muscle
13	chr21:40212200-40215600	Weak transcription	HUVEC	blood vessel
14	chr21:40212400-40215200	Weak transcription	HSMM	muscle
15	chr21:40212400-40215400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr21:40212400-40215400	Weak transcription	NHLF	lung
17	chr21:40212400-40215600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr21:40212600-40215400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:40212800-40215400	Weak transcription	NH-A	brain
20	chr21:40213000-40215200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr21:40213000-40219200	Weak transcription	Right Atrium	heart
22	chr21:40213400-40213800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:40213400-40214000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:40213400-40215200	Weak transcription	Osteobl	bone
25	chr21:40213600-40215000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr21:40213600-40215200	Weak transcription	NHDF-Ad	bronchial

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