Variant report

Variant	rs2908544
Chromosome Location	chr7:56175688-56175689
allele	C/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	MAZ	chr7:56173812-56175768	K562	blood:	n/a	chr7:56173977-56173987 chr7:56173971-56173981
2	CBX3	chr7:56174748-56175905	K562	blood:	n/a	n/a
3	RCOR1	chr7:56174003-56175750	K562	blood:	n/a	n/a
4	ZNF143	chr7:56175489-56175787	K562	blood:	n/a	n/a
5	IRF1	chr7:56173275-56175820	K562	blood:	n/a	chr7:56174663-56174673 chr7:56174186-56174200 chr7:56174663-56174677
6	GATA3	chr7:56175481-56176013	SH-SY5Y	brain:	n/a	n/a
7	ZMIZ1	chr7:56173157-56175717	K562	blood:	n/a	n/a
8	GATA1	chr7:56173024-56176382	K562	blood:	n/a	chr7:56174484-56174493
9	RUNX3	chr7:56175323-56175719	GM12878	blood:	n/a	n/a
10	TRIM28	chr7:56174639-56175985	K562	blood:	n/a	n/a
11	EP300	chr7:56173011-56176070	K562	blood:	n/a	chr7:56174629-56174639 chr7:56174748-56174762 chr7:56173887-56173900 chr7:56174352-56174359
12	UBTF	chr7:56174787-56175688	K562	blood:	n/a	n/a
13	KAP1	chr7:56174287-56176301	K562	blood:	n/a	n/a
14	IRF1	chr7:56173001-56175768	K562	blood:	n/a	chr7:56174663-56174673 chr7:56174186-56174200 chr7:56174663-56174677
15	MAX	chr7:56175472-56175712	GM12878	blood:	n/a	n/a
16	CBX3	chr7:56174781-56175968	K562	blood:	n/a	n/a
17	HCFC1	chr7:56173081-56175803	K562	blood:	n/a	n/a
18	ELF1	chr7:56175432-56175774	K562	blood:	n/a	chr7:56175466-56175477
19	MAFK	chr7:56172907-56175782	K562	blood:	n/a	chr7:56174408-56174419 chr7:56174684-56174700
20	ZNF384	chr7:56174773-56175688	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:56173528..56175860-chr7:56295526..56297795,2	K562	blood:

Variant related genes	Relation type
CHCHD2	TF binding region
ENSG00000227491	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10255049	0.84[ASN][1000 genomes]
rs10258800	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11238394	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11773374	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11773453	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12537943	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13234899	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13242830	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13244654	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1894832	0.90[AMR][1000 genomes]
rs2002651	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2016482	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2331180	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2538047	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2908543	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2908545	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2908550	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947536	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4948106	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6945795	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7782243	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7783339	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7793921	0.86[ASN][1000 genomes]
rs7799471	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7801169	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs816408	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816411	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs933466	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9767946	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
5	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv1034712	chr7:56146885-56605592	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv538861	chr7:56146885-56605592	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv526294	chr7:56171489-56622630	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	nsv1016771	chr7:56174828-56643856	Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv538862	chr7:56174828-56643856	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56174200-56183600	Weak transcription	Gastric	stomach
2	chr7:56174400-56176200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:56174800-56175800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr7:56175000-56175800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:56175000-56175800	Enhancers	Primary B cells from cord blood	blood
6	chr7:56175000-56176000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:56175200-56183400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:56175400-56175800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr7:56175400-56175800	ZNF genes & repeats	K562	blood
10	chr7:56175400-56175800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr7:56175600-56175800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr7:56175600-56176000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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