Variant report

Variant	rs1041438
Chromosome Location	chr21:40146255-40146256
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40139801..40142205-chr21:40143628..40147654,4	K562	blood:
2	chr21:40145518..40147915-chr21:40158381..40160685,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1013777	0.91[CEU][hapmap];0.87[CHB][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11088448	0.84[CHB][hapmap]
rs1209912	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1209913	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1209914	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1209916	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1209917	0.91[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1209918	0.90[EUR][1000 genomes]
rs1209919	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1209920	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1209921	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1209922	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1209923	0.90[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1209925	0.91[CEU][hapmap];0.87[CHB][hapmap];0.90[EUR][1000 genomes]
rs1209926	0.91[CEU][hapmap];0.86[CHB][hapmap];0.90[EUR][1000 genomes]
rs1209927	0.91[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes]
rs1209928	0.91[CEU][hapmap];0.84[CHB][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1209929	0.91[CEU][hapmap];0.87[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1209931	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1209932	0.91[CEU][hapmap];0.86[CHB][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1209933	0.91[CEU][hapmap];0.91[CHB][hapmap]
rs1209934	0.91[CEU][hapmap];0.91[CHB][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1209935	0.91[CEU][hapmap];0.90[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1209936	0.94[CEU][hapmap]
rs1209937	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1209940	0.91[CHB][hapmap]
rs1209943	0.90[CEU][hapmap];0.95[CHB][hapmap]
rs1209944	0.86[CEU][hapmap];0.91[CHB][hapmap]
rs1309152	0.91[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes]
rs2000638	0.95[EUR][1000 genomes]
rs2156422	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2156423	0.97[ASN][1000 genomes]
rs2256290	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2257047	0.97[ASN][1000 genomes]
rs2283638	0.83[CHB][hapmap]
rs2283639	0.82[CHB][hapmap]
rs2836679	0.97[ASN][1000 genomes]
rs2836680	0.97[ASN][1000 genomes]
rs7280798	0.97[ASN][1000 genomes]
rs8133579	0.97[ASN][1000 genomes]
rs9977542	0.99[ASN][1000 genomes]
rs9981039	0.87[CHB][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060405	chr21:40095523-40159813	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1057356	chr21:40103881-40147363	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv913739	chr21:40103951-40152372	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv913740	chr21:40103951-40157124	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1066051	chr21:40114130-40147363	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1057627	chr21:40114130-40151977	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1060535	chr21:40114130-40155067	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1063936	chr21:40114130-40159150	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv459254	chr21:40116044-40152372	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv459255	chr21:40116044-40152372	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv459256	chr21:40116044-40152372	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv459257	chr21:40116044-40152372	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv470900	chr21:40116044-40152372	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv587475	chr21:40116044-40152372	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv459258	chr21:40116044-40157124	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv587476	chr21:40116044-40157124	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv913742	chr21:40116044-40157124	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv516348	chr21:40116044-40161381	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	nsv913743	chr21:40116044-40161381	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv1055623	chr21:40118451-40161072	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv1056485	chr21:40128875-40159813	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1041438	ETS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40139200-40146400	Weak transcription	Lung	lung
2	chr21:40141400-40147400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr21:40141600-40149200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr21:40142000-40149200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr21:40142800-40150600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr21:40143600-40147800	Enhancers	NHDF-Ad	bronchial
7	chr21:40144600-40146400	Enhancers	NHEK	skin
8	chr21:40144600-40146600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr21:40144600-40147400	Enhancers	Fetal Lung	lung
10	chr21:40144600-40147600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr21:40144800-40146400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr21:40144800-40146400	Enhancers	Osteobl	bone
13	chr21:40144800-40146600	Enhancers	Fetal Stomach	stomach
14	chr21:40144800-40146600	Enhancers	HMEC	breast
15	chr21:40144800-40146600	Enhancers	HUVEC	blood vessel
16	chr21:40144800-40146800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:40144800-40146800	Enhancers	Placenta	Placenta
18	chr21:40144800-40146800	Enhancers	Ovary	ovary
19	chr21:40144800-40147200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr21:40144800-40148400	Enhancers	Aorta	Aorta
21	chr21:40145000-40146400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr21:40145000-40146400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr21:40145000-40146600	Enhancers	Pancreas	Pancrea
24	chr21:40145000-40146600	Bivalent Enhancer	HepG2	liver
25	chr21:40145000-40146800	Enhancers	Fetal Muscle Leg	muscle
26	chr21:40145000-40146800	Enhancers	Left Ventricle	heart
27	chr21:40145000-40146800	Enhancers	Right Atrium	heart
28	chr21:40145000-40147000	Enhancers	Fetal Muscle Trunk	muscle
29	chr21:40145000-40147600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr21:40145200-40148600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr21:40145400-40148600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr21:40145400-40148800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr21:40145400-40148800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr21:40145800-40146400	Weak transcription	Spleen	Spleen
35	chr21:40145800-40146600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr21:40145800-40146600	Enhancers	NH-A	brain
37	chr21:40146000-40146600	Enhancers	Hela-S3	cervix
38	chr21:40146000-40147200	Enhancers	NHLF	lung
39	chr21:40146000-40147400	Weak transcription	Adipose Nuclei	Adipose
40	chr21:40146000-40148200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr21:40146200-40146400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr21:40146200-40147400	Weak transcription	HSMM	muscle
43	chr21:40146200-40148400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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