Variant report

Variant	rs2836711
Chromosome Location	chr21:40221165-40221166
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40217862..40220675-chr21:40220912..40222796,2	K562	blood:
2	chr21:40204834..40207310-chr21:40220918..40222421,2	K562	blood:
3	chr21:40218988..40223370-chr21:40223471..40227627,7	K562	blood:
4	chr21:40184134..40185724-chr21:40220746..40223336,2	K562	blood:
5	chr21:40202120..40203721-chr21:40220643..40222450,2	K562	blood:
6	chr21:40210912..40213065-chr21:40219265..40221347,3	K562	blood:
7	chr21:40177532..40179419-chr21:40220518..40222692,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229986	Chromatin interaction
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1000844	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs1009121	0.94[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs1051420	0.82[CEU][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs1051475	0.88[ASN][1000 genomes]
rs1051476	0.81[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs10854389	0.82[ASN][1000 genomes]
rs11088450	0.89[ASN][1000 genomes]
rs11088451	0.89[ASN][1000 genomes]
rs11088452	0.93[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs11088453	0.91[ASN][1000 genomes]
rs11088454	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1123350	0.94[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs11254	0.82[CEU][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs11701191	0.89[ASN][1000 genomes]
rs11701500	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11702403	0.90[ASN][1000 genomes]
rs12481740	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12482470	0.89[ASN][1000 genomes]
rs12483746	0.96[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12627283	0.88[ASN][1000 genomes]
rs13046853	0.89[ASN][1000 genomes]
rs13047133	0.89[ASN][1000 genomes]
rs13047537	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13047745	0.89[ASN][1000 genomes]
rs13048035	0.87[ASN][1000 genomes]
rs13050340	0.91[ASN][1000 genomes]
rs1571707	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2070531	0.82[CEU][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs2142035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2836683	0.88[ASN][1000 genomes]
rs2836684	0.88[ASN][1000 genomes]
rs2836685	0.89[ASN][1000 genomes]
rs2836686	0.89[ASN][1000 genomes]
rs2836687	0.89[ASN][1000 genomes]
rs2836688	0.89[ASN][1000 genomes]
rs2836689	0.89[ASN][1000 genomes]
rs2836690	0.89[ASN][1000 genomes]
rs2836691	0.89[ASN][1000 genomes]
rs2836692	0.89[ASN][1000 genomes]
rs2836693	0.89[ASN][1000 genomes]
rs2836694	0.94[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs2836710	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7282444	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7282723	0.88[ASN][1000 genomes]
rs762386	0.94[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs762387	0.94[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs9941892	0.82[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs998855	0.91[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
rs2836711	ETS2	cis	lymphoblastoid	seeQTL

Chromatin state (count:27 , 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	chr21:40216400-40221200	Weak transcription	HUVEC	blood vessel
4	chr21:40219200-40221200	Enhancers	Fetal Stomach	stomach
5	chr21:40219200-40221200	Enhancers	Left Ventricle	heart
6	chr21:40219200-40222200	Enhancers	K562	blood
7	chr21:40219200-40222400	Enhancers	Fetal Heart	heart
8	chr21:40219200-40222400	Enhancers	Fetal Lung	lung
9	chr21:40219200-40222400	Enhancers	Fetal Muscle Leg	muscle
10	chr21:40219400-40223400	Weak transcription	Aorta	Aorta
11	chr21:40219400-40224000	Weak transcription	Esophagus	oesophagus
12	chr21:40219800-40221200	Enhancers	Stomach Smooth Muscle	stomach
13	chr21:40219800-40221600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:40219800-40222000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr21:40219800-40225200	Weak transcription	Osteobl	bone
16	chr21:40219800-40229000	Weak transcription	Right Atrium	heart
17	chr21:40220000-40221400	Enhancers	Hela-S3	cervix
18	chr21:40220000-40224000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:40220000-40224400	Weak transcription	HMEC	breast
20	chr21:40220200-40223600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr21:40220400-40223400	Weak transcription	NHEK	skin
22	chr21:40220400-40224400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr21:40220400-40225200	Weak transcription	NHDF-Ad	bronchial
24	chr21:40220400-40229000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr21:40220600-40221600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr21:40220600-40222200	Weak transcription	Placenta	Placenta
27	chr21:40220600-40223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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