Variant report

Variant	rs7577598
Chromosome Location	chr2:178548496-178548497
allele	C/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	EP300	chr2:178547554-178548718	K562	blood:	n/a	n/a
2	MAFK	chr2:178548421-178548711	HepG2	liver:	n/a	chr2:178548572-178548587
3	MAZ	chr2:178548190-178548547	K562	blood:	n/a	n/a
4	UBTF	chr2:178548233-178548683	K562	blood:	n/a	n/a
5	SPI1	chr2:178548377-178548630	K562	blood:	n/a	n/a
6	MAFK	chr2:178548477-178548720	K562	blood:	n/a	chr2:178548572-178548587
7	RCOR1	chr2:178547701-178548752	K562	blood:	n/a	n/a
8	MAFF	chr2:178548445-178548745	K562	blood:	n/a	n/a
9	BHLHE40	chr2:178548418-178548511	K562	blood:	n/a	n/a
10	MAFF	chr2:178548426-178548720	HepG2	liver:	n/a	n/a
11	MAFK	chr2:178548427-178548738	HepG2	liver:	n/a	chr2:178548572-178548587

Variant related genes	Relation type
PDE11A	TF binding region

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11886258	1.00[EUR][1000 genomes]
rs11901841	1.00[EUR][1000 genomes]
rs12620627	1.00[EUR][1000 genomes]
rs13428260	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1344924	1.00[EUR][1000 genomes]
rs16865743	1.00[EUR][1000 genomes]
rs56797590	1.00[EUR][1000 genomes]
rs57026464	1.00[EUR][1000 genomes]
rs57986087	1.00[EUR][1000 genomes]
rs58471763	1.00[EUR][1000 genomes]
rs59234264	1.00[EUR][1000 genomes]
rs59572353	1.00[EUR][1000 genomes]
rs61560417	1.00[EUR][1000 genomes]
rs6714540	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73026501	1.00[EUR][1000 genomes]
rs73028307	1.00[EUR][1000 genomes]
rs73028314	1.00[EUR][1000 genomes]
rs73028315	1.00[EUR][1000 genomes]
rs73028326	1.00[EUR][1000 genomes]
rs73028333	1.00[EUR][1000 genomes]
rs73028337	1.00[EUR][1000 genomes]
rs73028352	1.00[EUR][1000 genomes]
rs73028355	1.00[EUR][1000 genomes]
rs73030318	1.00[EUR][1000 genomes]
rs73030323	1.00[EUR][1000 genomes]
rs73030331	1.00[EUR][1000 genomes]
rs73030336	1.00[EUR][1000 genomes]
rs73030347	1.00[EUR][1000 genomes]
rs73030350	1.00[EUR][1000 genomes]
rs73030357	1.00[EUR][1000 genomes]
rs73030362	1.00[EUR][1000 genomes]
rs73032055	1.00[EUR][1000 genomes]
rs73032059	1.00[EUR][1000 genomes]
rs73032072	1.00[EUR][1000 genomes]
rs73038286	1.00[EUR][1000 genomes]
rs73038287	1.00[EUR][1000 genomes]
rs73042837	1.00[EUR][1000 genomes]
rs73042842	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv431812	chr2:178525371-178584470	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007925	chr2:178535922-178577002	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv870023	chr2:178545623-178581407	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1005854	chr2:178546907-178586608	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv2762967	chr2:178546919-178577002	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178536600-178556000	Weak transcription	Pancreas	Pancrea
2	chr2:178544600-178552600	Weak transcription	Fetal Intestine Small	intestine
3	chr2:178545400-178549200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:178546200-178548600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:178546800-178554400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:178547000-178552800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:178547400-178549000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:178547400-178554400	Weak transcription	Fetal Kidney	kidney
9	chr2:178548000-178548600	Enhancers	Adipose Nuclei	Adipose
10	chr2:178548000-178548600	Flanking Active TSS	K562	blood
11	chr2:178548200-178549400	Weak transcription	HepG2	liver

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