Variant report

Variant	rs468331
Chromosome Location	chr21:40223782-40223783
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40223431..40225086-chr21:40277290..40280274,2	MCF-7	breast:
2	chr21:40218988..40223370-chr21:40223471..40227627,7	K562	blood:
3	chr21:40177151..40178855-chr21:40221816..40223937,2	K562	blood:
4	chr21:40221988..40225135-chr21:40277085..40280385,3	MCF-7	breast:
5	chr21:40183745..40185634-chr21:40221836..40225935,3	K562	blood:
6	chr21:40211369..40213824-chr21:40223080..40225148,2	K562	blood:
7	chr21:40175995..40178465-chr21:40223341..40225406,3	K562	blood:
8	chr21:40202074..40204721-chr21:40221926..40224763,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1209943	0.81[CEU][hapmap]
rs1534824	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1534825	0.91[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs1534826	0.89[ASN][1000 genomes]
rs2836696	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2836698	0.82[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2836699	0.87[ASN][1000 genomes]
rs2836701	0.90[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs2836702	0.87[ASN][1000 genomes]
rs2836705	0.88[ASN][1000 genomes]
rs2836706	0.91[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2836707	0.95[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]
rs2836708	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]
rs2836709	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs460475	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs462776	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs463452	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs467940	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs467985	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs468094	0.81[ASN][1000 genomes]
rs468107	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs468193	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs468456	0.90[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs468529	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs468837	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs468849	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs469180	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs469303	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs469353	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7276587	0.87[ASN][1000 genomes]
rs7279564	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]
rs7283959	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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
rs468331	ETS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
2	chr21:40203800-40225200	Weak transcription	Psoas Muscle	Psoas
3	chr21:40219400-40224000	Weak transcription	Esophagus	oesophagus
4	chr21:40219800-40225200	Weak transcription	Osteobl	bone
5	chr21:40219800-40229000	Weak transcription	Right Atrium	heart
6	chr21:40220000-40224000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:40220000-40224400	Weak transcription	HMEC	breast
8	chr21:40220400-40224400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr21:40220400-40225200	Weak transcription	NHDF-Ad	bronchial
10	chr21:40220400-40229000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr21:40221200-40223800	Enhancers	HepG2	liver
12	chr21:40221200-40226400	Enhancers	HUVEC	blood vessel
13	chr21:40221200-40229000	Weak transcription	Left Ventricle	heart
14	chr21:40221400-40225200	Weak transcription	Spleen	Spleen
15	chr21:40221600-40224600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr21:40222400-40225200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:40222400-40225200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr21:40222400-40225600	Weak transcription	Fetal Muscle Leg	muscle
19	chr21:40222400-40228200	Weak transcription	Fetal Heart	heart
20	chr21:40222800-40226200	Enhancers	K562	blood
21	chr21:40223000-40223800	Enhancers	Dnd41	blood
22	chr21:40223200-40226400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr21:40223200-40226600	Enhancers	Hela-S3	cervix
24	chr21:40223400-40225000	Weak transcription	NH-A	brain
25	chr21:40223400-40226400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr21:40223400-40226400	Enhancers	NHEK	skin
27	chr21:40223600-40226000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr21:40223600-40226200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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