Variant report

Variant	rs9550481
Chromosome Location	chr13:30111366-30111367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30107535..30109992-chr13:30110581..30113126,3	K562	blood:
2	chr13:30108354..30111384-chr13:30117429..30120230,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1018679	0.91[ASN][1000 genomes]
rs1018682	0.91[ASN][1000 genomes]
rs12428026	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2026322	0.81[EUR][1000 genomes]
rs2150688	0.91[ASN][1000 genomes]
rs2150693	0.91[ASN][1000 genomes]
rs2183717	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2236499	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2277451	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2776963	0.91[ASN][1000 genomes]
rs2802248	0.91[ASN][1000 genomes]
rs2802249	0.91[ASN][1000 genomes]
rs2989594	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3011605	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3783248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783257	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3783259	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783260	0.88[ASN][1000 genomes]
rs3783261	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783262	0.88[ASN][1000 genomes]
rs3783263	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3825536	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57383892	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6490409	0.88[ASN][1000 genomes]
rs72623486	0.85[EUR][1000 genomes]
rs914362	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9550482	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9551696	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430551	chr13:30061100-30113000	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30071000-30128800	Strong transcription	Dnd41	blood
2	chr13:30082800-30111600	Weak transcription	Stomach Mucosa	stomach
3	chr13:30084200-30112600	Strong transcription	NHEK	skin
4	chr13:30084200-30115800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr13:30084600-30112200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:30084800-30111600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:30085000-30111600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr13:30085600-30111600	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr13:30085800-30115400	Strong transcription	Primary T cells from cord blood	blood
10	chr13:30092200-30133000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr13:30095200-30112800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:30095400-30114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr13:30095800-30113200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:30096000-30112600	Weak transcription	Psoas Muscle	Psoas
15	chr13:30096600-30112200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:30096800-30111600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:30096800-30112200	Weak transcription	Liver	Liver
18	chr13:30097200-30138400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr13:30098000-30117200	Weak transcription	Small Intestine	intestine
20	chr13:30098800-30129000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr13:30099000-30114200	Weak transcription	Fetal Heart	heart
22	chr13:30100400-30111400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:30100400-30112000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:30100800-30111800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr13:30101400-30111600	Strong transcription	HSMM	muscle
26	chr13:30102800-30113400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:30103600-30111600	Strong transcription	Hela-S3	cervix
28	chr13:30103800-30111800	Weak transcription	Fetal Intestine Large	intestine
29	chr13:30103800-30112000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr13:30103800-30112000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr13:30103800-30112400	Weak transcription	Brain Anterior Caudate	brain
32	chr13:30103800-30122200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr13:30103800-30137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:30104200-30113000	Weak transcription	Brain Hippocampus Middle	brain
35	chr13:30104200-30135400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr13:30104800-30124600	Weak transcription	Right Ventricle	heart
37	chr13:30105000-30120000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr13:30105000-30120200	Weak transcription	Brain Substantia Nigra	brain
39	chr13:30105200-30136800	Weak transcription	Brain Germinal Matrix	brain
40	chr13:30106600-30125400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr13:30107000-30112200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr13:30107000-30123200	Weak transcription	K562	blood
43	chr13:30107200-30111800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr13:30107200-30112000	Weak transcription	Colon Smooth Muscle	Colon
45	chr13:30107200-30120600	Weak transcription	Fetal Thymus	thymus
46	chr13:30107200-30122200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr13:30107200-30123200	Weak transcription	A549	lung
48	chr13:30107200-30124200	Weak transcription	Placenta	Placenta
49	chr13:30107400-30111800	Weak transcription	Adipose Nuclei	Adipose
50	chr13:30107400-30112000	Weak transcription	Colonic Mucosa	Colon

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