Variant report

Variant	rs73906701
Chromosome Location	chr21:45405546-45405547
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45391227..45394196-chr21:45402468..45407272,4	K562	blood:
2	chr21:45395089..45398039-chr21:45405481..45407221,3	MCF-7	breast:
3	chr21:45400381..45403322-chr21:45403855..45406530,2	K562	blood:
4	chr21:45403511..45408258-chr21:45429516..45434550,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160218	Chromatin interaction
ENSG00000160216	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11537798	0.99[EUR][1000 genomes]
rs11911398	0.99[EUR][1000 genomes]
rs17004619	0.99[EUR][1000 genomes]
rs2838452	0.81[ASN][1000 genomes]
rs2838453	0.81[ASN][1000 genomes]
rs2838454	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838457	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2838461	0.99[EUR][1000 genomes]
rs6518342	0.81[ASN][1000 genomes]
rs7276691	0.81[ASN][1000 genomes]
rs7281203	0.81[ASN][1000 genomes]
rs73373134	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73373146	0.99[EUR][1000 genomes]
rs73373152	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73906692	0.87[EUR][1000 genomes]
rs8133463	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
2	chr21:45379000-45406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr21:45391600-45406800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr21:45392000-45406800	Weak transcription	NHEK	skin
5	chr21:45393200-45413800	Weak transcription	HSMMtube	muscle
6	chr21:45395400-45406000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr21:45395800-45405600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr21:45398800-45405600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr21:45401200-45405600	Weak transcription	K562	blood
10	chr21:45401200-45405600	Weak transcription	NH-A	brain
11	chr21:45402000-45405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:45402000-45408800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:45402200-45406600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr21:45402400-45405600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:45402400-45405600	Weak transcription	Colon Smooth Muscle	Colon
16	chr21:45402600-45405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:45402800-45406600	Weak transcription	Colonic Mucosa	Colon
18	chr21:45403000-45405600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr21:45403000-45405800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr21:45403200-45405600	Weak transcription	Brain Germinal Matrix	brain
21	chr21:45403200-45405600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr21:45403200-45405800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr21:45403200-45405800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr21:45403200-45405800	Weak transcription	Adipose Nuclei	Adipose
25	chr21:45403200-45406000	Weak transcription	Osteobl	bone
26	chr21:45403200-45407200	Enhancers	Fetal Thymus	thymus
27	chr21:45403400-45405600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr21:45403400-45405600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr21:45403600-45405600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr21:45403600-45405800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr21:45403600-45406000	Weak transcription	Fetal Intestine Large	intestine
32	chr21:45403600-45407000	Weak transcription	Psoas Muscle	Psoas
33	chr21:45403800-45405600	Weak transcription	Liver	Liver
34	chr21:45403800-45405600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr21:45404000-45405600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr21:45404000-45405600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr21:45404000-45405600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr21:45404000-45405800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:45404000-45405800	Weak transcription	Placenta	Placenta
40	chr21:45404000-45417400	Weak transcription	Gastric	stomach
41	chr21:45404200-45405600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr21:45404200-45405600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr21:45404200-45405600	Weak transcription	Pancreas	Pancrea
44	chr21:45404200-45405600	Weak transcription	Thymus	Thymus
45	chr21:45404200-45405800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr21:45404200-45406000	Weak transcription	Aorta	Aorta
47	chr21:45404200-45406400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr21:45404200-45406600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr21:45404200-45406600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr21:45404200-45406800	Weak transcription	Lung	lung

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