Variant report

Variant	rs9579396
Chromosome Location	chr13:30111841-30111842
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	chr13:30111583..30114649-chr13:30115841..30119376,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10454589	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10454590	0.87[EUR][1000 genomes]
rs2482091	0.97[EUR][1000 genomes]
rs2482093	0.97[EUR][1000 genomes]
rs2490265	0.97[EUR][1000 genomes]
rs2989593	0.97[EUR][1000 genomes]
rs34369885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34496705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71434731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7333701	0.90[AFR][1000 genomes]
rs7993193	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9578103	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9578104	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9578105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9578106	0.87[EUR][1000 genomes]
rs9578107	0.87[EUR][1000 genomes]
rs9579383	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9579384	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9579386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9579387	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9579388	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9579389	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9579390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9579391	0.97[EUR][1000 genomes]
rs9579392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9579393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9579394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9579395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9579398	0.87[EUR][1000 genomes]
rs9579402	0.95[AFR][1000 genomes]
rs9579403	0.90[AFR][1000 genomes]
rs9579404	0.90[AFR][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	chr13:30084200-30112600	Strong transcription	NHEK	skin
3	chr13:30084200-30115800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr13:30084600-30112200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:30085800-30115400	Strong transcription	Primary T cells from cord blood	blood
6	chr13:30092200-30133000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr13:30095200-30112800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:30095400-30114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:30095800-30113200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:30096000-30112600	Weak transcription	Psoas Muscle	Psoas
11	chr13:30096600-30112200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:30096800-30112200	Weak transcription	Liver	Liver
13	chr13:30097200-30138400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr13:30098000-30117200	Weak transcription	Small Intestine	intestine
15	chr13:30098800-30129000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr13:30099000-30114200	Weak transcription	Fetal Heart	heart
17	chr13:30100400-30112000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:30102800-30113400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:30103800-30112000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr13:30103800-30112000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr13:30103800-30112400	Weak transcription	Brain Anterior Caudate	brain
22	chr13:30103800-30122200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr13:30103800-30137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:30104200-30113000	Weak transcription	Brain Hippocampus Middle	brain
25	chr13:30104200-30135400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr13:30104800-30124600	Weak transcription	Right Ventricle	heart
27	chr13:30105000-30120000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr13:30105000-30120200	Weak transcription	Brain Substantia Nigra	brain
29	chr13:30105200-30136800	Weak transcription	Brain Germinal Matrix	brain
30	chr13:30106600-30125400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr13:30107000-30112200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr13:30107000-30123200	Weak transcription	K562	blood
33	chr13:30107200-30112000	Weak transcription	Colon Smooth Muscle	Colon
34	chr13:30107200-30120600	Weak transcription	Fetal Thymus	thymus
35	chr13:30107200-30122200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr13:30107200-30123200	Weak transcription	A549	lung
37	chr13:30107200-30124200	Weak transcription	Placenta	Placenta
38	chr13:30107400-30112000	Weak transcription	Colonic Mucosa	Colon
39	chr13:30107400-30112200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr13:30107400-30112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:30107400-30114800	Weak transcription	Left Ventricle	heart
42	chr13:30107400-30115000	Weak transcription	Aorta	Aorta
43	chr13:30107400-30122600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr13:30107400-30129200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr13:30107800-30112000	Weak transcription	Esophagus	oesophagus
46	chr13:30107800-30112000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr13:30107800-30112200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr13:30107800-30114200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:30107800-30119800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr13:30108000-30122600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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