Variant report

Variant	rs73906661
Chromosome Location	chr21:45292747-45292748
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	chr21:45291069..45293875-chr21:45339586..45342577,2	K562	blood:
2	chr21:45281251..45288408-chr21:45292401..45302111,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction
ENSG00000199598	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57815996	1.00[AMR][1000 genomes]
rs58028593	1.00[AMR][1000 genomes]
rs59208251	1.00[AMR][1000 genomes]
rs61160035	1.00[AMR][1000 genomes]
rs7276461	1.00[AMR][1000 genomes]
rs7276663	1.00[AMR][1000 genomes]
rs7277203	1.00[AMR][1000 genomes]
rs73906611	1.00[AMR][1000 genomes]
rs8129408	1.00[AMR][1000 genomes]
rs8129421	1.00[AMR][1000 genomes]
rs8132862	1.00[AMR][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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45286000-45300400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr21:45286800-45293800	Weak transcription	HSMMtube	muscle
3	chr21:45286800-45299800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:45287000-45293800	Weak transcription	HSMM	muscle
5	chr21:45287000-45297600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr21:45287000-45299800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:45287000-45304200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr21:45287200-45293000	Weak transcription	Osteobl	bone
9	chr21:45287200-45295200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:45287200-45299400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:45287200-45299600	Weak transcription	NHDF-Ad	bronchial
12	chr21:45287200-45300000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:45287400-45293600	Strong transcription	Fetal Stomach	stomach
14	chr21:45287400-45296200	Weak transcription	Fetal Heart	heart
15	chr21:45287400-45297600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr21:45287400-45299400	Weak transcription	Right Atrium	heart
17	chr21:45287400-45299600	Weak transcription	Brain Substantia Nigra	brain
18	chr21:45287400-45299800	Weak transcription	Hela-S3	cervix
19	chr21:45287400-45300200	Weak transcription	HUVEC	blood vessel
20	chr21:45287400-45300200	Weak transcription	NH-A	brain
21	chr21:45287400-45330200	Weak transcription	Fetal Kidney	kidney
22	chr21:45287600-45292800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr21:45287600-45292800	Weak transcription	Adipose Nuclei	Adipose
24	chr21:45287600-45293400	Strong transcription	Fetal Muscle Leg	muscle
25	chr21:45287600-45294200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr21:45287600-45299400	Weak transcription	Brain Anterior Caudate	brain
27	chr21:45287600-45299400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr21:45287600-45300000	Weak transcription	A549	lung
29	chr21:45287600-45307200	Weak transcription	Fetal Brain Male	brain
30	chr21:45287800-45293600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr21:45288200-45300000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr21:45288200-45300200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr21:45288200-45324200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr21:45288400-45293400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr21:45288400-45294200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr21:45288400-45294200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr21:45288400-45299600	Weak transcription	HMEC	breast
38	chr21:45288600-45293200	Strong transcription	Primary T cells from cord blood	blood
39	chr21:45288600-45294200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr21:45288600-45297400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr21:45288800-45292800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr21:45288800-45293200	Weak transcription	Fetal Brain Female	brain
43	chr21:45288800-45303800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr21:45289000-45292800	Weak transcription	Brain Hippocampus Middle	brain
45	chr21:45289000-45292800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr21:45289000-45299200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr21:45289400-45293400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr21:45289400-45300600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr21:45289600-45293400	Strong transcription	Dnd41	blood
50	chr21:45289600-45293400	Strong transcription	NHEK	skin

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