Variant report

Variant	rs4818752
Chromosome Location	chr21:46460758-46460759
allele	C/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
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17004727	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2005034	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4818753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819016	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4819017	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4819018	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819025	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4819026	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7279101	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7281866	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8131645	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9977099	0.82[AMR][1000 genomes];0.91[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:38 , 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	chr21:46453400-46460800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:46454400-46461800	Weak transcription	Fetal Kidney	kidney
4	chr21:46454600-46461400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:46455200-46460800	Weak transcription	Psoas Muscle	Psoas
6	chr21:46455200-46474800	Weak transcription	Right Atrium	heart
7	chr21:46457400-46460800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr21:46458600-46461400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr21:46458800-46461000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr21:46459000-46460800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr21:46459200-46463200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:46459400-46461600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:46459600-46461000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:46459600-46462000	Enhancers	Placenta	Placenta
15	chr21:46459800-46460800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:46459800-46461000	Enhancers	Adipose Nuclei	Adipose
17	chr21:46459800-46461000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr21:46459800-46461000	Enhancers	Spleen	Spleen
19	chr21:46459800-46462200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr21:46459800-46463200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:46460000-46460800	Enhancers	HepG2	liver
22	chr21:46460000-46461800	Enhancers	Colonic Mucosa	Colon
23	chr21:46460000-46461800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr21:46460200-46460800	Enhancers	Hela-S3	cervix
25	chr21:46460200-46461400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr21:46460200-46461800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr21:46460200-46461800	Enhancers	Stomach Smooth Muscle	stomach
28	chr21:46460200-46462600	Enhancers	Lung	lung
29	chr21:46460400-46460800	Weak transcription	Fetal Muscle Leg	muscle
30	chr21:46460400-46461000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr21:46460400-46461000	Enhancers	Pancreas	Pancrea
32	chr21:46460400-46461800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr21:46460600-46460800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr21:46460600-46460800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:46460600-46460800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr21:46460600-46461000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr21:46460600-46461800	Enhancers	Fetal Lung	lung
38	chr21:46460600-46462200	Enhancers	Primary neutrophils fromperipheralblood	blood

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