Variant report

Variant	rs10993483
Chromosome Location	chr9:97926000-97926001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97917825..97920411-chr9:97924472..97926268,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10283758	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10993475	0.89[EUR][1000 genomes]
rs10993479	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10993503	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12337959	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12338907	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12342782	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12344626	0.84[EUR][1000 genomes]
rs12350646	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12352586	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12377946	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17679141	0.85[EUR][1000 genomes]
rs1886992	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1889241	0.89[EUR][1000 genomes]
rs28626189	0.86[EUR][1000 genomes]
rs28658564	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4237226	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4647372	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4647373	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4647401	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4647404	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4647421	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4647432	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4647441	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4743990	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4744443	0.85[EUR][1000 genomes]
rs4744444	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4744445	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4744453	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56134407	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62560523	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7357617	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs879559	0.94[AMR][1000 genomes];0.94[EUR][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	nsv831656	chr9:97831551-97989980	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97890000-97928000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:97893800-97940400	Weak transcription	Pancreas	Pancrea
3	chr9:97900800-97930800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:97902000-97929800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:97906400-97933000	Weak transcription	Fetal Kidney	kidney
6	chr9:97906600-97950200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr9:97910800-97933000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:97911200-97930000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr9:97913200-97929000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:97913200-97930200	Weak transcription	Primary T cells from cord blood	blood
11	chr9:97913400-97929800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:97920000-97952000	Weak transcription	Aorta	Aorta
13	chr9:97920000-97952000	Weak transcription	Esophagus	oesophagus
14	chr9:97920400-97930400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:97920400-97951800	Weak transcription	HepG2	liver
16	chr9:97920600-97930400	Weak transcription	Liver	Liver
17	chr9:97920600-97931000	Weak transcription	Fetal Lung	lung
18	chr9:97920600-97933000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr9:97920600-97933400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:97920800-97931400	Weak transcription	Hela-S3	cervix
21	chr9:97920800-97931400	Weak transcription	K562	blood
22	chr9:97920800-97932800	Weak transcription	GM12878-XiMat	blood
23	chr9:97921200-97930400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr9:97925200-97926000	ZNF genes & repeats	Psoas Muscle	Psoas
25	chr9:97925600-97926000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:97925600-97926800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:97925600-97930200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr9:97925800-97926200	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr9:97925800-97926200	ZNF genes & repeats	Fetal Stomach	stomach
30	chr9:97925800-97938000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:97925800-97944800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr9:97926000-97929600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:97926000-97937800	Weak transcription	Psoas Muscle	Psoas

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