Variant report

Variant	rs2026942
Chromosome Location	chr9:96350875-96350876
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:96337503..96341816-chr9:96349703..96353663,8	K562	blood:
2	chr9:96350798..96352728-chr9:96354476..96356898,3	K562	blood:

Variant related genes	Relation type
ENSG00000197724	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1000850	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1000851	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1000852	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10122092	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1041500	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35094322	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4073155	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs4744255	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs7027975	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9644969	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.91[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	nsv824984	chr9:96310933-96375022	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2026942	FAM120AOS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96340400-96351200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:96340600-96351600	Weak transcription	Thymus	Thymus
3	chr9:96341200-96351200	Weak transcription	NHDF-Ad	bronchial
4	chr9:96341400-96356000	Weak transcription	Hela-S3	cervix
5	chr9:96341600-96351600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr9:96341600-96359600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr9:96341800-96362200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr9:96342200-96359600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr9:96342600-96357800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr9:96343400-96360600	Weak transcription	Dnd41	blood
11	chr9:96344800-96356400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr9:96345000-96351200	Weak transcription	Adipose Nuclei	Adipose
13	chr9:96345000-96351400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr9:96345000-96355000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr9:96345000-96356400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr9:96345000-96362600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr9:96345200-96351200	Weak transcription	Fetal Lung	lung
18	chr9:96345400-96351200	Weak transcription	HSMMtube	muscle
19	chr9:96345400-96351400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr9:96345600-96351600	Weak transcription	Fetal Intestine Large	intestine
21	chr9:96345600-96351800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr9:96347400-96352200	Enhancers	Psoas Muscle	Psoas
23	chr9:96347400-96353800	Enhancers	Ovary	ovary
24	chr9:96347400-96355400	Enhancers	Pancreas	Pancrea
25	chr9:96347400-96359000	Enhancers	Left Ventricle	heart
26	chr9:96347600-96351600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr9:96347600-96352800	Enhancers	Gastric	stomach
28	chr9:96347600-96353000	Enhancers	Lung	lung
29	chr9:96347600-96353600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr9:96347600-96355200	Enhancers	Right Atrium	heart
31	chr9:96347600-96355600	Enhancers	Right Ventricle	heart
32	chr9:96347600-96356200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:96347600-96360600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr9:96347800-96351400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:96348000-96351400	Weak transcription	Primary T cells from cord blood	blood
36	chr9:96348000-96353800	Enhancers	Fetal Muscle Trunk	muscle
37	chr9:96348200-96351200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:96348200-96351200	Weak transcription	HSMM	muscle
39	chr9:96348200-96354800	Weak transcription	Small Intestine	intestine
40	chr9:96348400-96351400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr9:96348400-96354400	Enhancers	Brain Hippocampus Middle	brain
42	chr9:96348400-96356200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:96348400-96360200	Weak transcription	Primary B cells from cord blood	blood
44	chr9:96348400-96360200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr9:96348600-96351200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:96348600-96351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:96348800-96351400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:96348800-96353400	Enhancers	Spleen	Spleen
49	chr9:96349000-96351000	Weak transcription	Fetal Muscle Leg	muscle
50	chr9:96349000-96351200	Weak transcription	Fetal Kidney	kidney

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