Variant report

Variant	rs7025174
Chromosome Location	chr9:26955864-26955865
allele	A/G/T
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	TBL1XR1	chr9:26955405-26956584	GM12878	blood:	n/a	n/a
2	MXI1	chr9:26955747-26957272	IMR90	lung:	n/a	n/a
3	POLR2A	chr9:26955864-26956714	GM12891	blood:	n/a	n/a
4	POLR2A	chr9:26955182-26957152	NB4	blood:	n/a	n/a
5	SIN3AK20	chr9:26955796-26956863	MCF-7	breast:	n/a	n/a
6	MAX	chr9:26955000-26957093	NB4	blood:	n/a	n/a
7	POLR2A	chr9:26955817-26956750	GM12892	blood:	n/a	n/a
8	POLR2A	chr9:26955808-26956671	SK-N-MC	brain:	n/a	n/a
9	MXI1	chr9:26955031-26957368	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr9:26955798-26956852	GM19193	blood:	n/a	n/a
11	CEBPB	chr9:26955848-26956467	ECC-1	luminal epithelium:	n/a	chr9:26956055-26956064 chr9:26956053-26956066 chr9:26956055-26956064 chr9:26956053-26956064 chr9:26956053-26956066 chr9:26956055-26956066 chr9:26956055-26956064 chr9:26956055-26956064
12	POLR2A	chr9:26955815-26956820	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr9:26955863-26956820	GM12891	blood:	n/a	n/a
14	POLR2A	chr9:26955604-26956995	HepG2	liver:	n/a	n/a
15	POLR2A	chr9:26955802-26956818	SK-N-MC	brain:	n/a	n/a
16	CUX1	chr9:26954807-26956463	K562	blood:	n/a	n/a
17	IRF1	chr9:26955380-26957063	K562	blood:	n/a	n/a
18	MXI1	chr9:26955572-26957094	GM12878	blood:	n/a	n/a
19	POLR2A	chr9:26955843-26956842	GM12892	blood:	n/a	n/a
20	POLR2A	chr9:26955146-26956874	GM12892	blood:	n/a	n/a
21	RCOR1	chr9:26955807-26955947	HepG2	liver:	n/a	n/a
22	POLR2A	chr9:26953902-26957243	PBDE	blood:	n/a	n/a
23	CEBPB	chr9:26955150-26956641	K562	blood:	n/a	chr9:26956055-26956064 chr9:26956053-26956066 chr9:26956055-26956064 chr9:26956053-26956064 chr9:26956053-26956066 chr9:26956055-26956066 chr9:26956055-26956064 chr9:26956055-26956064
24	POLR2A	chr9:26955802-26956974	IMR90	lung:	n/a	n/a
25	ZBTB33	chr9:26955707-26956851	SK-N-SH	brain:	n/a	chr9:26956299-26956308 chr9:26956300-26956310
26	MTA3	chr9:26955738-26957006	GM12878	blood:	n/a	n/a
27	CEBPB	chr9:26955858-26956383	K562	blood:	n/a	chr9:26956055-26956064 chr9:26956053-26956066 chr9:26956055-26956064 chr9:26956053-26956064 chr9:26956053-26956066 chr9:26956055-26956066 chr9:26956055-26956064 chr9:26956055-26956064
28	TAF1	chr9:26955839-26956756	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr9:26955135-26957202	GM12878	blood:	n/a	n/a
30	MAX	chr9:26955862-26956908	HepG2	liver:	n/a	n/a
31	ZNF384	chr9:26955165-26956551	K562	blood:	n/a	n/a
32	EP300	chr9:26955247-26957256	K562	blood:	n/a	chr9:26956501-26956510
33	PAX5	chr9:26955826-26956571	GM12878	blood:	n/a	chr9:26956256-26956275
34	UBTF	chr9:26955137-26956970	K562	blood:	n/a	n/a
35	POLR2A	chr9:26955831-26956857	GM12892	blood:	n/a	n/a
36	MYC	chr9:26955798-26956623	MCF10A-Er-Src	breast:	n/a	n/a
37	TCF12	chr9:26955863-26956836	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr9:26955303-26957779	MCF10A-Er-Src	breast:	n/a	n/a
39	CHD1	chr9:26955864-26956281	GM12878	blood:	n/a	n/a
40	POLR2A	chr9:26955816-26956823	GM12878	blood:	n/a	n/a
41	CEBPB	chr9:26955742-26956544	A549	lung:	n/a	chr9:26956055-26956064 chr9:26956053-26956066 chr9:26956055-26956064 chr9:26956053-26956064 chr9:26956053-26956066 chr9:26956055-26956066 chr9:26956055-26956064 chr9:26956055-26956064
42	MYC	chr9:26955842-26956613	MCF10A-Er-Src	breast:	n/a	n/a
43	CHD2	chr9:26955522-26957016	Hela-S3	cervix:	n/a	chr9:26956299-26956308
44	MTA3	chr9:26955747-26956898	GM12878	blood:	n/a	n/a
45	MAZ	chr9:26955202-26957209	K562	blood:	n/a	n/a
46	HCFC1	chr9:26955383-26956801	K562	blood:	n/a	n/a
47	CEBPB	chr9:26955855-26956487	MCF-7	breast:	n/a	chr9:26956055-26956064 chr9:26956053-26956066 chr9:26956055-26956064 chr9:26956053-26956064 chr9:26956053-26956066 chr9:26956055-26956066 chr9:26956055-26956064 chr9:26956055-26956064
48	POLR2A	chr9:26955828-26956852	U87	brain:	n/a	n/a
49	ZBTB33	chr9:26955763-26956934	A549	lung:	n/a	chr9:26956299-26956308 chr9:26956300-26956310
50	TCF12	chr9:26955749-26956893	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:26890425..26894629-chr9:26953159..26958312,6	K562	blood:
2	chr14:24911673..24912301-chr9:26955615..26956257,2	NB4	blood:
3	chr9:26889862..26894629-chr9:26953159..26958871,9	K562	blood:
4	chr9:26947258..26947845-chr9:26955755..26956333,2	MCF-7	breast:
5	chr9:26891902..26893962-chr9:26955453..26958235,3	MCF-7	breast:
6	chr9:26943098..26949574-chr9:26949927..26957421,13	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLAA-1	chr9:26955778-26956013	ENSG00000234676.1

Variant related genes	Relation type
IFT74	TF binding region
ENSG00000137055	Chromatin interaction
ENSG00000120159	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000096872	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs55921416	1.00[AMR][1000 genomes]
rs56154836	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56675714	1.00[AMR][1000 genomes]
rs6475953	1.00[AMR][1000 genomes]
rs7026226	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7034590	1.00[AMR][1000 genomes]
rs7034787	1.00[AMR][1000 genomes]
rs73643113	1.00[AMR][1000 genomes]
rs73643118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73643121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73643123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73643124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73643126	1.00[AMR][1000 genomes]
rs73643127	1.00[AMR][1000 genomes]
rs73643129	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73643130	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73643134	1.00[AMR][1000 genomes]
rs73643135	1.00[AMR][1000 genomes]
rs73643136	1.00[AMR][1000 genomes]
rs73643137	1.00[AMR][1000 genomes]
rs73643140	1.00[AMR][1000 genomes]
rs7856475	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7857472	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528614	chr9:26893662-27074233	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv517269	chr9:26945976-27137242	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26953800-26956000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr9:26954800-26958200	Active TSS	K562	blood
3	chr9:26955200-26956000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:26955200-26956000	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr9:26955200-26956000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr9:26955200-26956000	Flanking Active TSS	Dnd41	blood
7	chr9:26955200-26956000	Flanking Active TSS	Osteobl	bone
8	chr9:26955200-26956200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:26955200-26956200	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr9:26955200-26956200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr9:26955200-26956200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr9:26955200-26956200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr9:26955200-26956200	Flanking Active TSS	GM12878-XiMat	blood
14	chr9:26955200-26956800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr9:26955200-26957000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:26955200-26957000	Active TSS	Colonic Mucosa	Colon
17	chr9:26955200-26957000	Active TSS	Gastric	stomach
18	chr9:26955200-26957200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:26955200-26957200	Active TSS	Rectal Smooth Muscle	rectum
20	chr9:26955200-26957400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:26955200-26957400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:26955200-26957600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:26955200-26957800	Active TSS	Fetal Brain Male	brain
24	chr9:26955200-26957800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr9:26955400-26956000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr9:26955400-26956000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr9:26955400-26956000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr9:26955400-26956200	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr9:26955400-26956200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr9:26955400-26956200	Flanking Active TSS	HUVEC	blood vessel
31	chr9:26955400-26956600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr9:26955400-26956800	Active TSS	Small Intestine	intestine
33	chr9:26955400-26956800	Bivalent/Poised TSS	HepG2	liver
34	chr9:26955400-26957000	Active TSS	Fetal Lung	lung
35	chr9:26955400-26957200	Active TSS	H9 Cell Line	embryonic stem cell
36	chr9:26955400-26957200	Active TSS	Fetal Stomach	stomach
37	chr9:26955400-26957200	Active TSS	Right Atrium	heart
38	chr9:26955400-26957200	Active TSS	Right Ventricle	heart
39	chr9:26955400-26957400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:26955400-26957400	Active TSS	Stomach Smooth Muscle	stomach
41	chr9:26955400-26957400	Active TSS	A549	lung
42	chr9:26955600-26956000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr9:26955600-26956200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr9:26955600-26956200	Weak transcription	Spleen	Spleen
45	chr9:26955600-26956800	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr9:26955600-26956800	Active TSS	Liver	Liver
47	chr9:26955600-26956800	Active TSS	Brain Anterior Caudate	brain
48	chr9:26955600-26956800	Active TSS	Brain Hippocampus Middle	brain
49	chr9:26955600-26956800	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr9:26955600-26956800	Active TSS	Sigmoid Colon	Sigmoid Colon

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