Variant report

Variant	rs13296529
Chromosome Location	chr9:96380676-96380677
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	chr9:96337969..96340007-chr9:96379464..96381194,2	MCF-7	breast:
2	chr9:96379107..96381453-chr9:96385591..96387233,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197724	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10821170	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10821171	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10821172	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10821177	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10992795	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10992796	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13290276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17533702	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2254712	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2265300	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2265574	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2265575	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2265576	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2989752	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2989753	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2989755	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2989756	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2994365	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2994369	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2994370	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4743929	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4744258	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4744259	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56351334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61471428	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62573991	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62574558	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs928368	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9409477	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040891	chr9:96361529-96397338	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1044461	chr9:96362048-96397338	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv893585	chr9:96363859-96403367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv893586	chr9:96363859-96493773	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1055035	chr9:96372269-96402747	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1036609	chr9:96375217-96477641	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3356539	chr9:96378631-96382829	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3420060	chr9:96380607-96380864	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13296529	FAM120AOS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96352400-96384600	Weak transcription	NHLF	lung
2	chr9:96363200-96392000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:96363600-96383600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr9:96366600-96386600	Weak transcription	Fetal Heart	heart
5	chr9:96372800-96392000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr9:96373400-96386200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:96373400-96387000	Weak transcription	Fetal Brain Female	brain
8	chr9:96373400-96390000	Weak transcription	Primary B cells from cord blood	blood
9	chr9:96374600-96399800	Weak transcription	K562	blood
10	chr9:96374800-96385400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr9:96375000-96381600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr9:96375000-96382400	Weak transcription	Liver	Liver
13	chr9:96375000-96382600	Weak transcription	Hela-S3	cervix
14	chr9:96375200-96383200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr9:96375200-96383200	Weak transcription	Stomach Mucosa	stomach
16	chr9:96375200-96383800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr9:96375200-96391800	Weak transcription	Colonic Mucosa	Colon
18	chr9:96375400-96385800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr9:96375600-96382800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr9:96375600-96383000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr9:96375600-96383200	Weak transcription	Brain Angular Gyrus	brain
22	chr9:96375600-96383600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr9:96375600-96383800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr9:96375600-96390000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:96375800-96383400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:96375800-96386200	Weak transcription	Dnd41	blood
27	chr9:96375800-96390000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr9:96376000-96381000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr9:96376200-96393000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:96376400-96390000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:96376600-96381400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:96376600-96390000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:96376800-96382000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr9:96376800-96383400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr9:96377000-96382200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr9:96377000-96382400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr9:96377200-96382200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr9:96377200-96389200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr9:96377800-96386600	Weak transcription	Fetal Kidney	kidney
40	chr9:96378000-96381400	Weak transcription	Esophagus	oesophagus
41	chr9:96378200-96381000	Weak transcription	Gastric	stomach
42	chr9:96379200-96380800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr9:96379200-96380800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:96379200-96382200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:96379400-96381200	Strong transcription	Fetal Intestine Large	intestine
46	chr9:96379400-96381800	Weak transcription	HepG2	liver
47	chr9:96379400-96382600	Strong transcription	Fetal Intestine Small	intestine
48	chr9:96379400-96385800	Enhancers	Right Atrium	heart
49	chr9:96379600-96380800	Strong transcription	Thymus	Thymus
50	chr9:96379600-96381200	Weak transcription	Brain Inferior Temporal Lobe	brain

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