Variant report

Variant	rs462776
Chromosome Location	chr21:40226486-40226487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40224619..40227702-chr21:40232966..40234903,3	MCF-7	breast:
2	chr21:40193537..40196010-chr21:40225779..40228010,2	MCF-7	breast:
3	chr21:40225467..40227132-chr21:40235439..40238376,2	K562	blood:
4	chr21:40218988..40223370-chr21:40223471..40227627,7	K562	blood:
5	chr21:40225549..40227156-chr21:40227645..40229389,2	K562	blood:
6	chr21:40177638..40179463-chr21:40225287..40227141,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1534824	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs1534825	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs2836696	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2836698	0.80[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap]
rs2836701	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs2836706	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs2836707	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs2836708	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2836709	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs460475	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs463452	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap]
rs467940	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs467985	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs468193	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs468331	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs468456	0.95[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs468837	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs468849	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs469180	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs469353	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs7279564	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]

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
rs462776	ETS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
2	chr21:40219800-40229000	Weak transcription	Right Atrium	heart
3	chr21:40220400-40229000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:40221200-40229000	Weak transcription	Left Ventricle	heart
5	chr21:40222400-40228200	Weak transcription	Fetal Heart	heart
6	chr21:40223200-40226600	Enhancers	Hela-S3	cervix
7	chr21:40225400-40228600	Weak transcription	Psoas Muscle	Psoas
8	chr21:40225600-40228200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr21:40225800-40228800	Weak transcription	HepG2	liver
10	chr21:40225800-40234400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:40226000-40232000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr21:40226000-40233600	Weak transcription	Spleen	Spleen
13	chr21:40226000-40242200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:40226200-40228400	Weak transcription	Fetal Muscle Leg	muscle
15	chr21:40226200-40228400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr21:40226200-40228400	Weak transcription	K562	blood
17	chr21:40226200-40229200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr21:40226200-40229200	Weak transcription	Thymus	Thymus
19	chr21:40226200-40229200	Weak transcription	NH-A	brain
20	chr21:40226200-40232800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr21:40226400-40228600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr21:40226400-40229000	Weak transcription	Dnd41	blood
23	chr21:40226400-40229800	Weak transcription	HUVEC	blood vessel
24	chr21:40226400-40230400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr21:40226400-40231800	Weak transcription	NHEK	skin

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