Variant report

Variant	rs13048477
Chromosome Location	chr21:15752079-15752080
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:15751469..15753501-chr21:15755651..15758117,2	K562	blood:
2	chr21:15750689..15753216-chr21:15754882..15756987,2	MCF-7	breast:
3	chr21:15750287..15752845-chr21:15753558..15756230,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155304	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1040330	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12479	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13048179	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2037941	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2822624	0.88[ASN][1000 genomes]
rs2822629	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2822631	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2822632	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2822636	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2822638	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2822642	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2822644	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2822652	0.91[ASN][1000 genomes]
rs2822655	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7276170	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7282521	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9305301	0.86[ASN][1000 genomes]
rs9982492	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064554	chr21:15676222-15809321	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1061686	chr21:15724570-15765777	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv913403	chr21:15743387-15786271	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15743400-15753200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:15743800-15752600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:15743800-15754600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:15744200-15752400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr21:15744600-15752600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr21:15744600-15752600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr21:15744600-15754600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:15744800-15753000	Weak transcription	Fetal Heart	heart
9	chr21:15745000-15752400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr21:15745000-15753000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr21:15745000-15754600	Weak transcription	Stomach Mucosa	stomach
12	chr21:15745400-15754400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:15746600-15753000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr21:15746600-15754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr21:15749600-15754400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr21:15750000-15753200	Weak transcription	NHDF-Ad	bronchial
17	chr21:15750200-15753200	Weak transcription	Gastric	stomach
18	chr21:15750200-15754400	Weak transcription	Colonic Mucosa	Colon
19	chr21:15750200-15754800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:15750400-15752200	Weak transcription	Brain Germinal Matrix	brain
21	chr21:15750400-15752800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr21:15750400-15753200	Weak transcription	Small Intestine	intestine
23	chr21:15750400-15754600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:15750400-15754600	Weak transcription	Aorta	Aorta
25	chr21:15750600-15752800	Weak transcription	Primary T cells from cord blood	blood
26	chr21:15750600-15752800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr21:15750600-15752800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr21:15750600-15752800	Weak transcription	Fetal Intestine Small	intestine
29	chr21:15750600-15753000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr21:15750600-15753000	Weak transcription	Adipose Nuclei	Adipose
31	chr21:15750600-15753000	Weak transcription	Brain Substantia Nigra	brain
32	chr21:15750600-15753000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr21:15750600-15753200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr21:15750600-15753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr21:15750600-15753200	Weak transcription	Fetal Lung	lung
36	chr21:15750600-15753200	Weak transcription	Pancreas	Pancrea
37	chr21:15750600-15753200	Weak transcription	Right Ventricle	heart
38	chr21:15750600-15753200	Weak transcription	Spleen	Spleen
39	chr21:15750600-15753600	Weak transcription	Fetal Stomach	stomach
40	chr21:15750600-15753600	Weak transcription	Ovary	ovary
41	chr21:15750600-15754400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr21:15750600-15754400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr21:15750600-15754400	Weak transcription	Fetal Kidney	kidney
44	chr21:15750600-15754400	Weak transcription	Placenta	Placenta
45	chr21:15750600-15754400	Weak transcription	Psoas Muscle	Psoas
46	chr21:15750600-15754600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr21:15750600-15754600	Weak transcription	Thymus	Thymus
48	chr21:15750600-15754800	Weak transcription	Esophagus	oesophagus
49	chr21:15750800-15752200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr21:15750800-15752200	Weak transcription	HepG2	liver

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