Variant report

Variant	rs2836667
Chromosome Location	chr21:40126511-40126512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40116268..40119361-chr21:40123830..40126744,3	K562	blood:
2	chr21:40126380..40129299-chr21:40174705..40177451,3	MCF-7	breast:
3	chr21:40123857..40126104-chr21:40126225..40128039,2	MCF-7	breast:
4	chr21:40124035..40126719-chr21:40139656..40141773,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1013913	0.87[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1013914	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1013915	0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11908743	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13052279	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2252185	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410052	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836660	0.81[MKK][hapmap]
rs2836661	0.85[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2836662	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2836664	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836665	0.89[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836666	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836668	0.85[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2836669	0.93[ASW][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2836671	0.93[ASW][hapmap];0.85[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2836672	0.86[ASW][hapmap];0.85[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836673	0.81[ASN][1000 genomes]
rs34092958	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9636946	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9636947	0.84[ASN][1000 genomes]
rs9636948	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9636949	0.85[CEU][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[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	nsv913741	chr21:40116044-40142854	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2836667	KCNJ15	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40115400-40129600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr21:40120200-40127600	Weak transcription	Spleen	Spleen
3	chr21:40120600-40127400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr21:40120600-40127600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:40122600-40128600	Enhancers	Primary hematopoietic stem cells	blood
6	chr21:40124000-40126600	Enhancers	Fetal Lung	lung
7	chr21:40124000-40134000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:40124200-40128400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr21:40124200-40128800	Weak transcription	Fetal Kidney	kidney
10	chr21:40124200-40131200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr21:40124200-40133400	Weak transcription	Fetal Intestine Large	intestine
12	chr21:40124200-40134200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:40124400-40126600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr21:40124400-40127200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr21:40124400-40127400	Weak transcription	Adipose Nuclei	Adipose
16	chr21:40124800-40126800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:40125000-40128200	Enhancers	NHEK	skin
18	chr21:40125000-40130000	Weak transcription	Aorta	Aorta
19	chr21:40125200-40127000	Weak transcription	Lung	lung
20	chr21:40125200-40127400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr21:40125200-40127400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr21:40125200-40127600	Weak transcription	Placenta	Placenta
23	chr21:40125200-40127600	Weak transcription	Left Ventricle	heart
24	chr21:40125200-40127600	Weak transcription	Psoas Muscle	Psoas
25	chr21:40125200-40132000	Weak transcription	Fetal Thymus	thymus
26	chr21:40125400-40127200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr21:40125400-40127400	Weak transcription	HMEC	breast
28	chr21:40125400-40128400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr21:40125400-40128600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr21:40125400-40131200	Weak transcription	Ovary	ovary
31	chr21:40125400-40132800	Weak transcription	Fetal Muscle Leg	muscle
32	chr21:40125400-40138800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr21:40125800-40127600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr21:40125800-40132400	Weak transcription	Fetal Intestine Small	intestine
35	chr21:40126000-40127200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr21:40126000-40127400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr21:40126200-40126600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr21:40126200-40127200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr21:40126200-40127400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr21:40126200-40129000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr21:40126400-40127400	Weak transcription	Fetal Stomach	stomach
42	chr21:40126400-40139000	Weak transcription	Esophagus	oesophagus
43	chr21:40126400-40139000	Weak transcription	Right Atrium	heart

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