Variant report

Variant	rs34057777
Chromosome Location	chr7:56175529-56175530
allele	A/C
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	MYC	chr7:56173289-56175642	K562	blood:	n/a	chr7:56173977-56173987 chr7:56173971-56173981
2	MAZ	chr7:56173812-56175768	K562	blood:	n/a	chr7:56173977-56173987 chr7:56173971-56173981
3	CBX3	chr7:56174748-56175905	K562	blood:	n/a	n/a
4	MYC	chr7:56173047-56175630	K562	blood:	n/a	chr7:56173977-56173987 chr7:56173971-56173981
5	RCOR1	chr7:56174003-56175750	K562	blood:	n/a	n/a
6	ZNF143	chr7:56175489-56175787	K562	blood:	n/a	n/a
7	IRF1	chr7:56173275-56175820	K562	blood:	n/a	chr7:56174663-56174673 chr7:56174186-56174200 chr7:56174663-56174677
8	GATA3	chr7:56175481-56176013	SH-SY5Y	brain:	n/a	n/a
9	ZMIZ1	chr7:56173157-56175717	K562	blood:	n/a	n/a
10	GATA1	chr7:56173024-56176382	K562	blood:	n/a	chr7:56174484-56174493
11	RUNX3	chr7:56175323-56175719	GM12878	blood:	n/a	n/a
12	ELK1	chr7:56175464-56175669	GM12878	blood:	n/a	n/a
13	TBL1XR1	chr7:56172881-56175640	K562	blood:	n/a	n/a
14	TRIM28	chr7:56174639-56175985	K562	blood:	n/a	n/a
15	EP300	chr7:56173011-56176070	K562	blood:	n/a	chr7:56174629-56174639 chr7:56174748-56174762 chr7:56173887-56173900 chr7:56174352-56174359
16	UBTF	chr7:56174787-56175688	K562	blood:	n/a	n/a
17	MAX	chr7:56174771-56175674	K562	blood:	n/a	n/a
18	KAP1	chr7:56174287-56176301	K562	blood:	n/a	n/a
19	IRF1	chr7:56173001-56175768	K562	blood:	n/a	chr7:56174663-56174673 chr7:56174186-56174200 chr7:56174663-56174677
20	TEAD4	chr7:56173597-56175652	K562	blood:	n/a	n/a
21	RCOR1	chr7:56174745-56175598	K562	blood:	n/a	n/a
22	MAX	chr7:56175472-56175712	GM12878	blood:	n/a	n/a
23	CBX3	chr7:56174781-56175968	K562	blood:	n/a	n/a
24	TAL1	chr7:56173276-56175594	K562	blood:	n/a	n/a
25	HCFC1	chr7:56173081-56175803	K562	blood:	n/a	n/a
26	ELF1	chr7:56175432-56175774	K562	blood:	n/a	chr7:56175466-56175477
27	MAFK	chr7:56172907-56175782	K562	blood:	n/a	chr7:56174408-56174419 chr7:56174684-56174700
28	ZNF384	chr7:56174773-56175688	K562	blood:	n/a	n/a
29	JUND	chr7:56172955-56175625	K562	blood:	n/a	chr7:56174485-56174495 chr7:56173757-56173766 chr7:56174485-56174495 chr7:56174186-56174195
30	RUNX3	chr7:56175352-56175657	GM12878	blood:	n/a	n/a
31	CEBPB	chr7:56174819-56175585	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: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs13221255	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs13222500	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs13232756	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.86[EUR][1000 genomes]
rs13236894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238152	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13238424	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.98[EUR][1000 genomes]
rs13238899	0.81[CHD][hapmap]
rs13239795	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes]
rs13241227	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13243072	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap]
rs13243725	0.86[EUR][1000 genomes]
rs13340526	0.86[EUR][1000 genomes]
rs2242510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28498258	0.82[EUR][1000 genomes]
rs34287940	0.93[EUR][1000 genomes]
rs34304703	0.82[EUR][1000 genomes]
rs34372667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34667212	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34719521	0.86[EUR][1000 genomes]
rs34874704	0.86[EUR][1000 genomes]
rs35092795	0.91[EUR][1000 genomes]
rs35160834	0.86[EUR][1000 genomes]
rs35210477	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35307785	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35551160	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35557048	0.93[ASN][1000 genomes]
rs35704704	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35829286	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35928425	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3735066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3813504	1.00[CEU][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs4360246	0.86[EUR][1000 genomes]
rs56917729	0.86[EUR][1000 genomes]
rs71543773	0.84[EUR][1000 genomes]
rs71543784	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71543785	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71543788	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs71543793	0.85[EUR][1000 genomes]
rs73343714	0.86[EUR][1000 genomes]
rs73343719	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34057777	SUMF2	cis	lymphoblastoid	seeQTL

Chromatin state (count:26 , 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	chr7:56174600-56175600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr7:56174600-56175600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr7:56174800-56175600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:56174800-56175600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:56174800-56175600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr7:56174800-56175600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:56174800-56175800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr7:56175000-56175600	Enhancers	Primary B cells from peripheral blood	blood
11	chr7:56175000-56175600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr7:56175000-56175600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr7:56175000-56175600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:56175000-56175600	Enhancers	Fetal Thymus	thymus
15	chr7:56175000-56175800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr7:56175000-56175800	Enhancers	Primary B cells from cord blood	blood
17	chr7:56175000-56176000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:56175200-56175600	Enhancers	Primary T cells from cord blood	blood
19	chr7:56175200-56175600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr7:56175200-56183400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:56175400-56175600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr7:56175400-56175600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr7:56175400-56175600	Enhancers	Aorta	Aorta
24	chr7:56175400-56175800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr7:56175400-56175800	ZNF genes & repeats	K562	blood
26	chr7:56175400-56175800	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links