Variant report

Variant	rs7217466
Chromosome Location	chr17:45296834-45296835
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	RCOR1	chr17:45296276-45296845	K562	blood:	n/a	n/a
2	TEAD4	chr17:45296065-45297029	K562	blood:	n/a	n/a
3	CEBPD	chr17:45296243-45296929	K562	blood:	n/a	n/a
4	TRIM28	chr17:45296176-45296863	K562	blood:	n/a	n/a
5	JUND	chr17:45296343-45296903	K562	blood:	n/a	n/a
6	EGR1	chr17:45296705-45296864	GM12878	blood:	n/a	chr17:45296839-45296854 chr17:45296837-45296848
7	CBX3	chr17:45296150-45297092	K562	blood:	n/a	n/a
8	POLR2A	chr17:45296250-45297486	K562	blood:	n/a	n/a
9	POLR2A	chr17:45296330-45296906	K562	blood:	n/a	n/a
10	MYC	chr17:45296309-45297080	K562	blood:	n/a	n/a
11	CEBPD	chr17:45296152-45296913	K562	blood:	n/a	n/a
12	MAZ	chr17:45296300-45296886	K562	blood:	n/a	n/a
13	TEAD4	chr17:45296156-45296854	K562	blood:	n/a	n/a
14	ZNF384	chr17:45296356-45297014	K562	blood:	n/a	n/a
15	GATA1	chr17:45296036-45297327	K562	blood:	n/a	chr17:45296574-45296581 chr17:45296521-45296530 chr17:45296521-45296528 chr17:45296518-45296528 chr17:45296519-45296531 chr17:45296565-45296574
16	GATA1	chr17:45296045-45297042	PBDE	blood:	n/a	chr17:45296574-45296581 chr17:45296521-45296530 chr17:45296521-45296528 chr17:45296518-45296528 chr17:45296519-45296531 chr17:45296565-45296574
17	MYC	chr17:45296227-45296872	K562	blood:	n/a	n/a
18	POLR2A	chr17:45296315-45296869	K562	blood:	n/a	n/a
19	NR2F2	chr17:45296135-45296886	K562	blood:	n/a	n/a
20	MAX	chr17:45296198-45296887	K562	blood:	n/a	n/a
21	PML	chr17:45296260-45296849	K562	blood:	n/a	n/a
22	PML	chr17:45296348-45296880	K562	blood:	n/a	n/a
23	HDAC2	chr17:45296329-45296872	K562	blood:	n/a	chr17:45296520-45296529
24	POLR2A	chr17:45296274-45296870	K562	blood:	n/a	n/a
25	BATF	chr17:45296692-45296958	GM12878	blood:	n/a	n/a
26	YY1	chr17:45296717-45296991	K562	blood:	n/a	n/a
27	RCOR1	chr17:45296343-45296874	K562	blood:	n/a	n/a
28	POLR2A	chr17:45296365-45296890	K562	blood:	n/a	n/a
29	EGR1	chr17:45296266-45296969	K562	blood:	n/a	chr17:45296839-45296854 chr17:45296837-45296848
30	MAX	chr17:45296236-45296873	K562	blood:	n/a	n/a

Variant related genes	Relation type
MYL4	TF binding region
ENSG00000252088	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11570469	1.00[AMR][1000 genomes]
rs11570492	0.87[YRI][hapmap]
rs11869037	0.87[AFR][1000 genomes]
rs57661742	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58260762	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59764111	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60947665	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61255112	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61335303	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6504778	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7213590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7226301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314394	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314397	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314399	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316005	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316007	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316010	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316013	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316024	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316035	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316039	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316047	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316050	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316051	0.87[AFR][1000 genomes]
rs73317687	1.00[AMR][1000 genomes]
rs73319518	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319525	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319528	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319530	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319536	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327177	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327180	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327183	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327187	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327190	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327192	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327197	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327198	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329106	1.00[AMR][1000 genomes]
rs73329111	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329112	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8071472	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8078960	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45288400-45302000	Weak transcription	HSMM	muscle
2	chr17:45292800-45297600	Weak transcription	Fetal Brain Male	brain
3	chr17:45293400-45299000	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr17:45293600-45298600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr17:45293600-45298600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr17:45293600-45298600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr17:45293600-45298800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr17:45293600-45299000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr17:45294000-45298800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:45294000-45299000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr17:45294000-45299000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:45294000-45299000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr17:45294200-45298000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:45294200-45298600	Enhancers	Primary T cells from cord blood	blood
15	chr17:45294200-45299600	Enhancers	Primary B cells from peripheral blood	blood
16	chr17:45294600-45297800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr17:45295000-45298000	Weak transcription	HSMMtube	muscle
18	chr17:45295400-45297400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:45295400-45299200	Enhancers	Primary hematopoietic stem cells	blood
20	chr17:45295600-45301800	Enhancers	Fetal Intestine Small	intestine
21	chr17:45295800-45297200	Enhancers	Fetal Intestine Large	intestine
22	chr17:45295800-45297600	Enhancers	Left Ventricle	heart
23	chr17:45295800-45298400	Enhancers	Right Ventricle	heart
24	chr17:45295800-45298800	Genic enhancers	Fetal Muscle Leg	muscle
25	chr17:45295800-45299000	Enhancers	Fetal Thymus	thymus
26	chr17:45295800-45299200	Enhancers	Primary B cells from cord blood	blood
27	chr17:45296000-45297200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:45296200-45297000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr17:45296200-45297000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr17:45296200-45297200	Enhancers	Right Atrium	heart
31	chr17:45296200-45297200	Flanking Active TSS	K562	blood
32	chr17:45296200-45298200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr17:45296200-45298200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr17:45296200-45298200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr17:45296200-45298400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:45296200-45298800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:45296200-45299200	Genic enhancers	Fetal Muscle Trunk	muscle
38	chr17:45296200-45299200	Enhancers	Dnd41	blood
39	chr17:45296400-45297000	Enhancers	Gastric	stomach
40	chr17:45296400-45297400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr17:45296400-45297600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr17:45296400-45299000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr17:45296400-45304000	Enhancers	Stomach Mucosa	stomach
44	chr17:45296400-45305000	Enhancers	Spleen	Spleen
45	chr17:45296600-45297000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr17:45296600-45298200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:45296600-45298400	Enhancers	GM12878-XiMat	blood
48	chr17:45296800-45297000	Flanking Active TSS	Fetal Heart	heart
49	chr17:45296800-45298200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr17:45296800-45299200	Weak transcription	Small Intestine	intestine

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