Variant report

Variant	rs2768288
Chromosome Location	chr9:108316653-108316654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr9:108316231-108317494	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:108315930-108316680	A549	lung:	n/a	n/a
3	POLR2A	chr9:108316628-108316679	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr9:108315696-108318139	HepG2	liver:	n/a	n/a
5	POLR2A	chr9:108316286-108317619	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr9:108315557-108317795	GM12878	blood:	n/a	n/a
7	POLR2A	chr9:108315388-108317737	K562	blood:	n/a	n/a
8	POLR2A	chr9:108316445-108316933	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:108314759..108316945-chr9:108319984..108322234,2	K562	blood:

Variant related genes	Relation type
FKTN	TF binding region
ENSG00000228317	Chromatin interaction
ENSG00000106692	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1018848	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1018849	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10820805	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10820806	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10820807	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10820808	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10820816	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10991661	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10991662	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10991664	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10991666	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10991669	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10991675	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10991680	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10991686	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10991688	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11525961	0.80[AMR][1000 genomes]
rs11535511	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12235779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12555267	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1327351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1329021	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1329022	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1576285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16924672	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16924676	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1858744	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1928293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1928294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518110	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518111	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2518113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518117	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2518118	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2518119	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2518122	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2518127	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2518132	0.81[AMR][1000 genomes]
rs2518133	0.81[AMR][1000 genomes]
rs2768278	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2768284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2768285	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2768286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2768287	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2768293	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2768295	0.84[AMR][1000 genomes]
rs2768296	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2904847	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4302902	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56134629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744254	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72744266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72744269	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893692	chr9:108218852-108320988	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv1050141	chr9:108219667-108317424	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
3	nsv1049133	chr9:108292302-108356068	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108279000-108317600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:108282400-108319800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr9:108282400-108319800	Weak transcription	Left Ventricle	heart
4	chr9:108282400-108319800	Weak transcription	Psoas Muscle	Psoas
5	chr9:108282600-108319800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:108292600-108319800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr9:108293800-108319800	Weak transcription	Liver	Liver
8	chr9:108294800-108319800	Weak transcription	Hela-S3	cervix
9	chr9:108295600-108319800	Weak transcription	Aorta	Aorta
10	chr9:108297600-108319800	Weak transcription	NHLF	lung
11	chr9:108297800-108319200	Weak transcription	Dnd41	blood
12	chr9:108297800-108319800	Weak transcription	Adipose Nuclei	Adipose
13	chr9:108298000-108319800	Weak transcription	NHDF-Ad	bronchial
14	chr9:108298800-108319800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:108301000-108319800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:108301400-108319800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr9:108302200-108319800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:108304400-108319800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:108305000-108319800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr9:108305800-108319200	Weak transcription	GM12878-XiMat	blood
21	chr9:108305800-108319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:108307200-108319800	Weak transcription	Ovary	ovary
23	chr9:108309000-108319800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:108309200-108319600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr9:108309200-108319800	Weak transcription	HMEC	breast
26	chr9:108309400-108319800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:108309600-108319800	Weak transcription	A549	lung
28	chr9:108310400-108319400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:108312000-108319800	Weak transcription	HSMM	muscle
30	chr9:108312000-108319800	Weak transcription	NH-A	brain
31	chr9:108313400-108319800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:108314600-108316800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:108316400-108316800	Enhancers	Gastric	stomach

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