Variant report

Variant	rs7023212
Chromosome Location	chr9:96342890-96342891
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96341833..96343358-chr9:96346773..96348583,2	K562	blood:
2	chr9:96340603..96342904-chr9:96370807..96373306,2	K562	blood:
3	chr9:96211528..96214948-chr9:96337573..96343441,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000048828	Chromatin interaction
ENSG00000188938	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10115234	0.93[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10761234	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10761237	0.91[CHB][hapmap];0.82[JPT][hapmap];0.92[YRI][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10821126	0.83[AMR][1000 genomes]
rs10821127	0.81[AMR][1000 genomes]
rs10821131	0.84[AMR][1000 genomes]
rs10821135	0.85[CEU][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes]
rs10821144	0.93[CEU][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10821155	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10821162	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10821166	0.82[CEU][hapmap]
rs10992783	0.94[ASN][1000 genomes]
rs10992788	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10992789	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13292712	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3901421	0.82[YRI][hapmap];0.90[AMR][1000 genomes]
rs3933795	0.81[YRI][hapmap];0.86[AMR][1000 genomes]
rs4237221	0.93[CEU][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4310267	0.82[AMR][1000 genomes]
rs4607675	0.87[AMR][1000 genomes]
rs4743927	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4744243	0.85[CEU][hapmap];0.85[AMR][1000 genomes]
rs4744245	0.88[AMR][1000 genomes]
rs61707921	0.86[AMR][1000 genomes]
rs6479484	0.96[YRI][hapmap];0.94[AMR][1000 genomes]
rs6479485	0.89[YRI][hapmap];0.91[AMR][1000 genomes]
rs6479492	0.93[CEU][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6479493	0.93[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7019001	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7021689	0.81[CEU][hapmap];0.87[AMR][1000 genomes]
rs7023577	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7035504	0.93[CEU][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7040832	0.90[AMR][1000 genomes]
rs883782	0.93[CEU][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs883784	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs952288	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs966789	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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
rs7023212	FAM120AOS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96340000-96344400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:96340400-96344000	Weak transcription	Aorta	Aorta
3	chr9:96340400-96344200	Weak transcription	K562	blood
4	chr9:96340400-96344800	Enhancers	Gastric	stomach
5	chr9:96340400-96344800	Enhancers	Spleen	Spleen
6	chr9:96340400-96345200	Enhancers	Liver	Liver
7	chr9:96340400-96345600	Enhancers	Stomach Mucosa	stomach
8	chr9:96340400-96348200	Weak transcription	Fetal Kidney	kidney
9	chr9:96340400-96351200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:96340600-96343800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:96340600-96343800	Enhancers	Esophagus	oesophagus
12	chr9:96340600-96344200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:96340600-96344200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr9:96340600-96344400	Weak transcription	HSMMtube	muscle
15	chr9:96340600-96344600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr9:96340600-96344800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr9:96340600-96344800	Enhancers	Brain Cingulate Gyrus	brain
18	chr9:96340600-96345000	Enhancers	Adipose Nuclei	Adipose
19	chr9:96340600-96345000	Enhancers	Fetal Muscle Trunk	muscle
20	chr9:96340600-96345000	Enhancers	Placenta	Placenta
21	chr9:96340600-96345000	Enhancers	Left Ventricle	heart
22	chr9:96340600-96346400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr9:96340600-96351600	Weak transcription	Thymus	Thymus
24	chr9:96340800-96343200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr9:96340800-96343800	Enhancers	Colon Smooth Muscle	Colon
26	chr9:96340800-96344400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr9:96340800-96344400	Weak transcription	HUVEC	blood vessel
28	chr9:96340800-96344400	Weak transcription	NH-A	brain
29	chr9:96340800-96344800	Enhancers	Brain Angular Gyrus	brain
30	chr9:96340800-96344800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr9:96340800-96344800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr9:96340800-96345000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr9:96340800-96345000	Enhancers	Brain Anterior Caudate	brain
34	chr9:96340800-96345000	Enhancers	Pancreas	Pancrea
35	chr9:96340800-96345000	Enhancers	Right Ventricle	heart
36	chr9:96340800-96345000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr9:96340800-96345200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr9:96340800-96346600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr9:96340800-96346800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:96341000-96343000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:96341000-96343000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr9:96341000-96343000	Weak transcription	HSMM	muscle
43	chr9:96341000-96343400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:96341000-96343400	Enhancers	Dnd41	blood
45	chr9:96341000-96343800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:96341000-96344000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr9:96341000-96344600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:96341000-96345200	Enhancers	Brain Hippocampus Middle	brain
49	chr9:96341000-96347400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr9:96341000-96348800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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