Variant report

Variant	rs1888525
Chromosome Location	chr21:45354744-45354745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45299527..45301699-chr21:45352590..45355103,2	K562	blood:
2	chr21:45353651..45355425-chr21:45357614..45359435,2	MCF-7	breast:
3	chr21:45323009..45324981-chr21:45353834..45356371,2	K562	blood:
4	chr21:45330659..45332526-chr21:45353655..45356430,2	K562	blood:
5	chr21:45350751..45352749-chr21:45352921..45355084,2	K562	blood:
6	chr21:45340527..45345737-chr21:45352879..45360873,10	K562	blood:
7	chr21:45281403..45288287-chr21:45354667..45363125,18	K562	blood:
8	chr21:45352880..45356983-chr21:45357815..45359696,3	MCF-7	breast:
9	chr21:45261344..45263558-chr21:45354374..45356683,2	K562	blood:
10	chr21:45210542..45212642-chr21:45354588..45357125,2	K562	blood:
11	chr21:45237201..45239998-chr21:45352077..45354787,2	K562	blood:
12	chr21:45347889..45351135-chr21:45352926..45356421,4	MCF-7	breast:
13	chr21:45354193..45356078-chr21:45363330..45365754,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1005192	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2070547	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186929	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838435	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838436	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838439	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827246	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4819340	0.93[EUR][1000 genomes]
rs4819345	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819348	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518334	0.84[EUR][1000 genomes]
rs6518335	0.89[EUR][1000 genomes]
rs6518337	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518338	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276578	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8127341	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs914196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9306164	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306165	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306166	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974282	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9978688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9985035	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999519	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
4	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
5	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
6	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
7	nsv1055772	chr21:45353436-45373304	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv3386737	chr21:45354672-45354901	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45337600-45358600	Weak transcription	Osteobl	bone
2	chr21:45338800-45358600	Weak transcription	Hela-S3	cervix
3	chr21:45340800-45358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:45341400-45358600	Weak transcription	A549	lung
5	chr21:45342200-45357000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr21:45342200-45358800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr21:45342400-45356400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr21:45343000-45357600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr21:45343000-45372400	Weak transcription	Small Intestine	intestine
10	chr21:45343400-45355200	Weak transcription	Brain Germinal Matrix	brain
11	chr21:45343400-45355600	Weak transcription	Brain Angular Gyrus	brain
12	chr21:45343600-45358000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr21:45343800-45356000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr21:45343800-45356200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr21:45343800-45357600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr21:45343800-45358600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr21:45343800-45358600	Weak transcription	HSMM	muscle
18	chr21:45343800-45358800	Weak transcription	Ovary	ovary
19	chr21:45343800-45379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr21:45344000-45357200	Strong transcription	Fetal Stomach	stomach
21	chr21:45344400-45358400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr21:45345200-45358600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr21:45345400-45358600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:45345800-45354800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr21:45346400-45355400	Weak transcription	Fetal Lung	lung
26	chr21:45348400-45356000	Weak transcription	Right Atrium	heart
27	chr21:45348400-45363800	Weak transcription	Aorta	Aorta
28	chr21:45348800-45355200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr21:45348800-45356600	Weak transcription	Colon Smooth Muscle	Colon
30	chr21:45348800-45358600	Weak transcription	NHEK	skin
31	chr21:45349200-45355200	Weak transcription	Brain Hippocampus Middle	brain
32	chr21:45349200-45355400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr21:45349400-45355600	Strong transcription	Fetal Intestine Large	intestine
34	chr21:45349400-45357000	Strong transcription	Fetal Intestine Small	intestine
35	chr21:45349400-45359200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr21:45349800-45355200	Weak transcription	Stomach Mucosa	stomach
37	chr21:45349800-45357600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr21:45350000-45354800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr21:45350000-45357600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr21:45350000-45358400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr21:45350200-45354800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr21:45350200-45355000	Weak transcription	Brain Substantia Nigra	brain
43	chr21:45350200-45355600	Weak transcription	HepG2	liver
44	chr21:45350200-45355800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr21:45350200-45357200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr21:45350200-45358600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr21:45350400-45355000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr21:45350400-45355600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr21:45350400-45364000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr21:45350800-45355000	Weak transcription	Fetal Muscle Trunk	muscle

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