Variant report

Variant	rs66525413
Chromosome Location	chr2:172287568-172287569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr2:172287336-172287637	K562	blood:	n/a	n/a
2	ELF1	chr2:172287439-172287650	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:172287399-172287709	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr2:172287147-172287924	H1-hESC	embryonic stem cell:	n/a	n/a
5	SETDB1	chr2:172287372-172288151	K562	blood:	n/a	n/a
6	SETDB1	chr2:172286916-172288060	K562	blood:	n/a	n/a
7	SPI1	chr2:172287126-172287940	GM12878	blood:	n/a	n/a
8	SPI1	chr2:172287300-172287597	GM12878	blood:	n/a	n/a
9	CBX3	chr2:172287259-172287747	K562	blood:	n/a	n/a
10	SPI1	chr2:172287353-172287597	K562	blood:	n/a	n/a
11	MAFF	chr2:172287537-172287845	HepG2	liver:	n/a	n/a
12	SETDB1	chr2:172287167-172287805	U2OS	brain:	n/a	n/a
13	ZBTB7A	chr2:172287403-172287593	K562	blood:	n/a	n/a
14	POLR2A	chr2:172287032-172287833	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:172287352-172287734	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAFK	chr2:172287519-172287785	HepG2	liver:	n/a	n/a
17	ELF1	chr2:172287254-172287709	K562	blood:	n/a	n/a
18	TBP	chr2:172287370-172287745	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAFK	chr2:172287537-172287831	HepG2	liver:	n/a	n/a
20	SPI1	chr2:172287325-172287619	GM12891	blood:	n/a	n/a
21	POLR2A	chr2:172287410-172287751	H1-hESC	embryonic stem cell:	n/a	n/a
22	SPI1	chr2:172287291-172287677	HL-60	blood:	n/a	n/a
23	KAP1	chr2:172287380-172287870	HEK293	kidney:	n/a	n/a
24	SPI1	chr2:172287269-172287679	GM12891	blood:	n/a	n/a
25	POLR2A	chr2:172287448-172288749	GM12891	blood:	n/a	n/a
26	POLR2A	chr2:172287456-172287665	H1-hESC	embryonic stem cell:	n/a	n/a
27	KAP1	chr2:172287369-172287983	K562	blood:	n/a	n/a
28	SPI1	chr2:172287328-172287572	GM12878	blood:	n/a	n/a
29	CBX3	chr2:172287312-172287705	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172272632..172274572-chr2:172285670..172288180,2	K562	blood:
2	chr2:172287317..172289847-chr2:172289909..172292066,2	MCF-7	breast:
3	chr2:172016150..172017866-chr2:172286061..172287731,2	K562	blood:
4	chr2:172013756..172019540-chr2:172285624..172293532,16	K562	blood:
5	chr2:172287467..172293160-chr2:172293206..172300397,21	K562	blood:
6	chr2:171783791..171787349-chr2:172286549..172291928,9	K562	blood:
7	chr2:172267095..172269091-chr2:172287123..172288853,2	K562	blood:
8	chr2:172272632..172275850-chr2:172285670..172289133,3	K562	blood:

No data

Variant related genes	Relation type
DCAF17	TF binding region
ENSG00000115806	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16859392	0.81[AFR][1000 genomes]
rs16859394	0.81[AFR][1000 genomes]
rs57396064	0.88[AFR][1000 genomes]
rs58033547	0.90[AFR][1000 genomes]
rs58796565	0.86[AFR][1000 genomes]
rs59745257	0.90[AFR][1000 genomes]
rs59886446	0.80[AFR][1000 genomes]
rs60100357	0.90[AFR][1000 genomes]
rs61731491	0.81[AFR][1000 genomes]
rs72882349	0.87[EUR][1000 genomes]
rs73021082	0.80[AFR][1000 genomes]
rs73022904	0.90[AFR][1000 genomes]
rs73022907	0.90[AFR][1000 genomes]
rs73022921	0.90[AFR][1000 genomes]
rs73022930	0.90[AFR][1000 genomes]
rs73022949	0.81[AFR][1000 genomes]
rs7563499	0.90[AFR][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv3349868	chr2:172276494-172302401	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers 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	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172266400-172289600	Weak transcription	Psoas Muscle	Psoas
3	chr2:172266400-172289600	Weak transcription	Right Ventricle	heart
4	chr2:172268800-172289200	Weak transcription	HSMM	muscle
5	chr2:172272600-172289000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:172272600-172289400	Weak transcription	HSMMtube	muscle
7	chr2:172278000-172288600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:172278200-172289600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:172280600-172287800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:172280600-172289600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:172281000-172289600	Weak transcription	Left Ventricle	heart
12	chr2:172281000-172289600	Weak transcription	Right Atrium	heart
13	chr2:172281000-172290200	Weak transcription	Aorta	Aorta
14	chr2:172281200-172290000	Weak transcription	Ovary	ovary
15	chr2:172281600-172288000	ZNF genes & repeats	GM12878-XiMat	blood
16	chr2:172281600-172289400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:172282200-172287600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:172282200-172288400	Weak transcription	Fetal Lung	lung
19	chr2:172282200-172288600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:172282200-172288800	Weak transcription	NHLF	lung
21	chr2:172282200-172289200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:172282200-172289200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:172282400-172287600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:172282400-172287600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:172282400-172287600	Weak transcription	A549	lung
26	chr2:172285600-172289200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:172285800-172289400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:172286000-172289600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:172286200-172289600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:172286400-172288600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr2:172286600-172289000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:172286800-172287600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:172286800-172288000	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr2:172286800-172288600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
35	chr2:172286800-172288600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr2:172287000-172288000	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr2:172287000-172288000	Enhancers	HMEC	breast
38	chr2:172287000-172288800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr2:172287000-172288800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:172287000-172288800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr2:172287200-172287600	Enhancers	HepG2	liver
42	chr2:172287200-172287800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:172287200-172288200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr2:172287200-172288200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr2:172287200-172288200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:172287200-172288200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:172287200-172288200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:172287200-172288400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:172287200-172288400	ZNF genes & repeats	Dnd41	blood
50	chr2:172287200-172288600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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