Variant report

Variant	rs17604704
Chromosome Location	chr17:45275487-45275488
allele	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	ZMIZ1	chr17:45275191-45275519	K562	blood:	n/a	n/a
2	EP300	chr17:45275229-45275718	K562	blood:	n/a	n/a
3	NR2F2	chr17:45275117-45275535	K562	blood:	n/a	n/a
4	CREB1	chr17:45275084-45275686	K562	blood:	n/a	n/a
5	TBL1XR1	chr17:45275109-45275555	K562	blood:	n/a	n/a
6	CREB1	chr17:45275057-45275573	K562	blood:	n/a	n/a
7	TEAD4	chr17:45275037-45275614	K562	blood:	n/a	n/a
8	TRIM28	chr17:45275038-45275603	K562	blood:	n/a	n/a
9	TBL1XR1	chr17:45275228-45275508	K562	blood:	n/a	n/a
10	GATA2	chr17:45275056-45275556	K562	blood:	n/a	chr17:45275309-45275318 chr17:45275300-45275317
11	ARID3A	chr17:45275046-45275746	K562	blood:	n/a	n/a
12	JUND	chr17:45274960-45275619	K562	blood:	n/a	chr17:45275244-45275253
13	EP300	chr17:45275150-45275580	K562	blood:	n/a	n/a
14	RCOR1	chr17:45275195-45275523	K562	blood:	n/a	n/a
15	RCOR1	chr17:45275136-45275575	K562	blood:	n/a	n/a
16	TEAD4	chr17:45275023-45275665	K562	blood:	n/a	n/a
17	BHLHE40	chr17:45275180-45275495	K562	blood:	n/a	n/a
18	CCNT2	chr17:45275223-45275592	K562	blood:	n/a	chr17:45275300-45275320
19	HDAC2	chr17:45275190-45275513	K562	blood:	n/a	n/a
20	JUN	chr17:45275140-45275618	K562	blood:	n/a	chr17:45275244-45275253
21	NR2F2	chr17:45274993-45275661	K562	blood:	n/a	n/a
22	MAFF	chr17:45275201-45275536	K562	blood:	n/a	n/a
23	ZNF143	chr17:45275259-45275492	K562	blood:	n/a	n/a
24	POLR2A	chr17:45275058-45275596	K562	blood:	n/a	n/a
25	JUN	chr17:45275182-45275598	K562	blood:	n/a	chr17:45275244-45275253
26	TAL1	chr17:45275101-45275581	K562	blood:	n/a	chr17:45275300-45275318
27	JUN	chr17:45275095-45275617	K562	blood:	n/a	chr17:45275244-45275253
28	STAT5A	chr17:45275071-45275621	K562	blood:	n/a	chr17:45275328-45275336
29	JUN	chr17:45275163-45275592	K562	blood:	n/a	chr17:45275244-45275253
30	CEBPD	chr17:45275050-45275651	K562	blood:	n/a	n/a
31	POLR2A	chr17:45275168-45275553	K562	blood:	n/a	n/a
32	ATF1	chr17:45275143-45275559	K562	blood:	n/a	n/a
33	CUX1	chr17:45275272-45275565	K562	blood:	n/a	n/a
34	STAT5A	chr17:45275100-45275522	K562	blood:	n/a	chr17:45275328-45275336
35	GATA1	chr17:45274721-45275817	PBDE	blood:	n/a	chr17:45275309-45275318 chr17:45275300-45275317
36	CEBPD	chr17:45275064-45275600	K562	blood:	n/a	n/a
37	TBP	chr17:45275268-45275507	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45273720..45275642-chr17:45286534..45288242,2	K562	blood:
2	chr17:45273730..45275648-chr17:45337706..45340032,2	K562	blood:
3	chr17:45273543..45276290-chr17:45282146..45284491,3	K562	blood:

Variant related genes	Relation type
MYL4	TF binding region
ENSG00000198336	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11570460	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1515754	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17604704	RP11-156P1.3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45266800-45277800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:45267200-45277200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:45268400-45281000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr17:45270600-45281200	Weak transcription	Spleen	Spleen
5	chr17:45270800-45276800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:45270800-45277200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr17:45274600-45275600	Flanking Active TSS	K562	blood
8	chr17:45274600-45276200	Enhancers	Fetal Muscle Leg	muscle
9	chr17:45274800-45275800	Enhancers	Fetal Heart	heart
10	chr17:45274800-45276000	Enhancers	HSMMtube	muscle
11	chr17:45274800-45276400	Enhancers	HSMM	muscle
12	chr17:45274800-45282200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr17:45275000-45275600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr17:45275000-45275800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr17:45275200-45275600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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