Variant report

Variant	rs73232669
Chromosome Location	chr21:46605241-46605242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46603421..46605562-chr21:46613527..46615818,2	K562	blood:
2	chr21:46596742..46598458-chr21:46604486..46606241,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17004494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17004749	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17004752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17004754	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs377244	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs407550	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs420499	0.82[EUR][1000 genomes]
rs453176	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7279483	0.94[EUR][1000 genomes]
rs73232686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9306119	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9980546	0.86[EUR][1000 genomes]
rs9983577	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv1063943	chr21:46571988-46819424	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv544482	chr21:46571988-46819424	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1064859	chr21:46571988-46830602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv544483	chr21:46571988-46830602	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv1061691	chr21:46572641-46831862	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv544484	chr21:46572641-46831862	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	esv1802303	chr21:46580319-46606676	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv587839	chr21:46580370-46837709	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
13	nsv587840	chr21:46580370-46839904	Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
14	nsv916959	chr21:46585681-46831845	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46583800-46606000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:46589000-46606400	Weak transcription	Brain Substantia Nigra	brain
3	chr21:46589000-46646000	Weak transcription	Colonic Mucosa	Colon
4	chr21:46590000-46608800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:46590800-46607000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:46591400-46605800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr21:46595600-46606000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr21:46595600-46607400	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr21:46595800-46605400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr21:46595800-46605800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:46595800-46607400	Strong transcription	Stomach Smooth Muscle	stomach
12	chr21:46596000-46605800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:46596000-46605800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:46598600-46606200	Weak transcription	K562	blood
15	chr21:46599200-46605600	Weak transcription	Fetal Heart	heart
16	chr21:46599600-46607400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr21:46599800-46605800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:46600000-46605400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr21:46600200-46606600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr21:46600400-46605600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr21:46600400-46606600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr21:46600400-46607200	Weak transcription	Small Intestine	intestine
23	chr21:46600600-46605400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:46601000-46606000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr21:46601200-46606200	Strong transcription	HMEC	breast
26	chr21:46602000-46606400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr21:46602400-46605600	Weak transcription	Fetal Brain Male	brain
28	chr21:46603600-46606600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr21:46603600-46607600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr21:46604000-46605800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr21:46604000-46606000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr21:46604200-46605800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr21:46604200-46606600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr21:46604400-46605800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr21:46604400-46605800	Strong transcription	Adipose Nuclei	Adipose
36	chr21:46604400-46605800	Strong transcription	Fetal Lung	lung
37	chr21:46604400-46605800	Strong transcription	Fetal Muscle Leg	muscle
38	chr21:46604400-46606000	Strong transcription	Fetal Stomach	stomach
39	chr21:46604400-46606200	Strong transcription	Primary T cells from cord blood	blood
40	chr21:46604400-46606200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr21:46604400-46606200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr21:46604400-46606400	Strong transcription	Left Ventricle	heart
43	chr21:46604400-46606600	Strong transcription	Right Ventricle	heart
44	chr21:46604400-46606800	Strong transcription	Ovary	ovary
45	chr21:46604400-46607800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr21:46604600-46605800	Strong transcription	Primary hematopoietic stem cells	blood
47	chr21:46604600-46605800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr21:46604600-46606000	Strong transcription	Aorta	Aorta
49	chr21:46604600-46606400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr21:46604600-46606400	Strong transcription	Colon Smooth Muscle	Colon

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