Variant report

Variant	rs2014065
Chromosome Location	chr21:45282957-45282958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45282912..45284880-chr21:45350407..45353939,3	K562	blood:
2	chr21:45281617..45284138-chr21:45284201..45287466,4	MCF-7	breast:
3	chr21:45282036..45289054-chr21:45334704..45338842,9	K562	blood:
4	chr21:45282600..45286741-chr21:45429139..45433009,5	MCF-7	breast:
5	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
6	chr21:45227701..45229997-chr21:45280310..45283557,3	K562	blood:
7	chr21:45282912..45284880-chr21:45350407..45352499,2	K562	blood:

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000215458	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1007439	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12397628	0.88[EUR][1000 genomes]
rs2014064	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838423	0.81[EUR][1000 genomes]
rs2838424	0.84[EUR][1000 genomes]
rs4819321	0.85[EUR][1000 genomes]
rs4819322	0.85[EUR][1000 genomes]
rs4819323	0.88[EUR][1000 genomes]
rs4819324	0.86[EUR][1000 genomes]
rs4819327	0.88[EUR][1000 genomes]
rs4819329	0.87[EUR][1000 genomes]
rs9306163	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9979796	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
5	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv3538	chr21:45267674-45297159	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45275000-45284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:45279400-45284000	Weak transcription	Right Ventricle	heart
3	chr21:45280400-45284000	Weak transcription	Colon Smooth Muscle	Colon
4	chr21:45280600-45283800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr21:45280600-45284000	Weak transcription	Fetal Lung	lung
6	chr21:45280800-45283400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr21:45280800-45283800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:45280800-45283800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr21:45280800-45284000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:45280800-45284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:45280800-45284000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr21:45280800-45284000	Weak transcription	Small Intestine	intestine
13	chr21:45280800-45284000	Weak transcription	A549	lung
14	chr21:45280800-45284000	Weak transcription	NHEK	skin
15	chr21:45280800-45284000	Weak transcription	NHLF	lung
16	chr21:45280800-45284200	Weak transcription	Brain Substantia Nigra	brain
17	chr21:45281000-45283400	Weak transcription	Esophagus	oesophagus
18	chr21:45281000-45283400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr21:45281000-45283600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr21:45281000-45283600	Weak transcription	Fetal Intestine Large	intestine
21	chr21:45281000-45283600	Weak transcription	Fetal Intestine Small	intestine
22	chr21:45281000-45283600	Weak transcription	Hela-S3	cervix
23	chr21:45281000-45283800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:45281000-45283800	Weak transcription	HMEC	breast
25	chr21:45281000-45284000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr21:45281000-45284000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr21:45281000-45284000	Weak transcription	Spleen	Spleen
28	chr21:45281000-45284200	Weak transcription	Gastric	stomach
29	chr21:45281200-45283400	Enhancers	GM12878-XiMat	blood
30	chr21:45281200-45284000	Weak transcription	Ovary	ovary
31	chr21:45281200-45284000	Weak transcription	Psoas Muscle	Psoas
32	chr21:45281600-45283600	Weak transcription	Placenta	Placenta
33	chr21:45281600-45284000	Weak transcription	Left Ventricle	heart
34	chr21:45281600-45284200	Weak transcription	Lung	lung
35	chr21:45281800-45283400	Weak transcription	Brain Anterior Caudate	brain
36	chr21:45281800-45283800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr21:45281800-45284000	Weak transcription	Adipose Nuclei	Adipose
38	chr21:45281800-45284000	Weak transcription	Colonic Mucosa	Colon
39	chr21:45281800-45284000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr21:45282000-45283400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr21:45282000-45283400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr21:45282000-45283600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr21:45282000-45283800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr21:45282000-45284000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr21:45282000-45284000	Weak transcription	Stomach Mucosa	stomach
46	chr21:45282000-45284200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr21:45282000-45284200	Weak transcription	Pancreas	Pancrea
48	chr21:45282200-45283400	Weak transcription	K562	blood
49	chr21:45282200-45283800	Weak transcription	Thymus	Thymus
50	chr21:45282400-45283400	Weak transcription	Primary B cells from cord blood	blood

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