Variant report

Variant	rs11909725
Chromosome Location	chr21:46460923-46460924
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	chr21:46455328..46462561-chr21:46492274..46496629,8	K562	blood:
2	chr21:46459084..46461124-chr21:46463006..46464960,2	K562	blood:

Variant related genes	Relation type
ENSG00000268856	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs35448631	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55777743	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57646949	1.00[ASN][1000 genomes]
rs57712590	1.00[ASN][1000 genomes]
rs58402288	1.00[ASN][1000 genomes]
rs59080254	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73382618	0.89[ASN][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	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv913986	chr21:46344426-46466674	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv913991	chr21:46356816-46472929	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv913995	chr21:46376528-46466674	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv913997	chr21:46383941-46472929	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv1834255	chr21:46408790-46472929	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	esv1838717	chr21:46408790-46472929	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46451800-46462200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:46454400-46461800	Weak transcription	Fetal Kidney	kidney
3	chr21:46454600-46461400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:46455200-46474800	Weak transcription	Right Atrium	heart
5	chr21:46458600-46461400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr21:46458800-46461000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr21:46459200-46463200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr21:46459400-46461600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr21:46459600-46461000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr21:46459600-46462000	Enhancers	Placenta	Placenta
11	chr21:46459800-46461000	Enhancers	Adipose Nuclei	Adipose
12	chr21:46459800-46461000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr21:46459800-46461000	Enhancers	Spleen	Spleen
14	chr21:46459800-46462200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr21:46459800-46463200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:46460000-46461800	Enhancers	Colonic Mucosa	Colon
17	chr21:46460000-46461800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr21:46460200-46461400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr21:46460200-46461800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:46460200-46461800	Enhancers	Stomach Smooth Muscle	stomach
21	chr21:46460200-46462600	Enhancers	Lung	lung
22	chr21:46460400-46461000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:46460400-46461000	Enhancers	Pancreas	Pancrea
24	chr21:46460400-46461800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr21:46460600-46461000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr21:46460600-46461800	Enhancers	Fetal Lung	lung
27	chr21:46460600-46462200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr21:46460800-46461000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr21:46460800-46461000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr21:46460800-46461000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr21:46460800-46461000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr21:46460800-46461000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr21:46460800-46461000	Enhancers	Osteobl	bone
34	chr21:46460800-46461200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr21:46460800-46461200	Enhancers	Ovary	ovary
36	chr21:46460800-46461200	Enhancers	HSMM	muscle
37	chr21:46460800-46461800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr21:46460800-46461800	Enhancers	Fetal Muscle Leg	muscle
39	chr21:46460800-46462000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr21:46460800-46462000	Enhancers	Right Ventricle	heart
41	chr21:46460800-46462000	Enhancers	NHLF	lung
42	chr21:46460800-46462200	Enhancers	Psoas Muscle	Psoas
43	chr21:46460800-46462400	Flanking Active TSS	Hela-S3	cervix
44	chr21:46460800-46462400	Enhancers	HMEC	breast
45	chr21:46460800-46462400	Enhancers	NHDF-Ad	bronchial
46	chr21:46460800-46462600	Enhancers	Esophagus	oesophagus
47	chr21:46460800-46462800	Bivalent Enhancer	HepG2	liver

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