Variant report

Variant	rs7027975
Chromosome Location	chr9:96352933-96352934
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	chr9:96337503..96341816-chr9:96349703..96353663,8	K562	blood:
2	chr9:96347503..96349844-chr9:96352338..96353951,2	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	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1000851	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1000852	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10122092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1041500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2026942	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35094322	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073155	0.88[EUR][1000 genomes]
rs4744255	0.87[EUR][1000 genomes]
rs9644969	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[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
rs7027975	FAM120AOS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96341400-96356000	Weak transcription	Hela-S3	cervix
2	chr9:96341600-96359600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr9:96341800-96362200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr9:96342200-96359600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:96342600-96357800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:96343400-96360600	Weak transcription	Dnd41	blood
7	chr9:96344800-96356400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr9:96345000-96355000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr9:96345000-96356400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:96345000-96362600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr9:96347400-96353800	Enhancers	Ovary	ovary
12	chr9:96347400-96355400	Enhancers	Pancreas	Pancrea
13	chr9:96347400-96359000	Enhancers	Left Ventricle	heart
14	chr9:96347600-96353000	Enhancers	Lung	lung
15	chr9:96347600-96353600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr9:96347600-96355200	Enhancers	Right Atrium	heart
17	chr9:96347600-96355600	Enhancers	Right Ventricle	heart
18	chr9:96347600-96356200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:96347600-96360600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr9:96348000-96353800	Enhancers	Fetal Muscle Trunk	muscle
21	chr9:96348200-96354800	Weak transcription	Small Intestine	intestine
22	chr9:96348400-96354400	Enhancers	Brain Hippocampus Middle	brain
23	chr9:96348400-96356200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:96348400-96360200	Weak transcription	Primary B cells from cord blood	blood
25	chr9:96348400-96360200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr9:96348800-96353400	Enhancers	Spleen	Spleen
27	chr9:96349000-96365800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr9:96349200-96353000	Weak transcription	Fetal Intestine Small	intestine
29	chr9:96349400-96356200	Weak transcription	A549	lung
30	chr9:96350000-96353000	Enhancers	Colon Smooth Muscle	Colon
31	chr9:96350000-96355200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr9:96350200-96353000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:96350400-96354200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr9:96350400-96354800	Weak transcription	K562	blood
35	chr9:96350800-96354000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:96350800-96354000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr9:96350800-96355600	Enhancers	HepG2	liver
38	chr9:96351000-96353000	Enhancers	Fetal Muscle Leg	muscle
39	chr9:96351200-96353200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:96351200-96353200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr9:96351200-96353600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:96351200-96353800	Enhancers	Fetal Heart	heart
43	chr9:96351200-96355200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:96351200-96355200	Enhancers	Brain Anterior Caudate	brain
45	chr9:96351400-96353000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr9:96351400-96355200	Enhancers	Brain Angular Gyrus	brain
47	chr9:96351400-96355600	Enhancers	Brain Cingulate Gyrus	brain
48	chr9:96351400-96357600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:96351400-96359600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr9:96351600-96353600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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