Variant report

Variant	rs34459720
Chromosome Location	chr2:98325447-98325448
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	NFYB	chr2:98325077-98325608	K562	blood:	n/a	chr2:98325302-98325317
2	NFYA	chr2:98325134-98325607	K562	blood:	n/a	chr2:98325305-98325323
3	NFYB	chr2:98325097-98325535	GM12878	blood:	n/a	chr2:98325302-98325317
4	USF1	chr2:98325093-98325463	K562	blood:	n/a	chr2:98325223-98325234
5	NFYA	chr2:98325264-98325483	Hela-S3	cervix:	n/a	chr2:98325305-98325323
6	USF1	chr2:98325007-98325455	ECC-1	luminal epithelium:	n/a	chr2:98325223-98325234
7	USF1	chr2:98325089-98325529	H1-hESC	embryonic stem cell:	n/a	chr2:98325223-98325234

No.	Distal block	Cell Line	Cell type
1	chr2:98321801..98323323-chr2:98325143..98328007,2	MCF-7	breast:
2	chr2:98317619..98320456-chr2:98324086..98325839,2	MCF-7	breast:
3	chr2:98312481..98316233-chr2:98322802..98326765,3	K562	blood:
4	chr2:98323418..98325644-chr2:98350016..98352921,2	K562	blood:
5	chr2:98323738..98326551-chr2:98339441..98341219,2	K562	blood:
6	chr2:98325414..98327155-chr2:98332598..98334979,2	K562	blood:
7	chr2:98323754..98326397-chr2:98334462..98336180,3	MCF-7	breast:

Variant related genes	Relation type
ZAP70	TF binding region
ENSG00000115085	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12999616	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17028771	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17695937	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071038	1.00[ASN][1000 genomes]
rs2290123	1.00[ASN][1000 genomes]
rs2290126	0.94[ASN][1000 genomes]
rs2290127	1.00[ASN][1000 genomes]
rs35321033	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35530168	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35958372	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55757705	1.00[ASN][1000 genomes]
rs55766309	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55933640	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56035334	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233535	1.00[ASN][1000 genomes]
rs56717024	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57875000	0.83[AFR][1000 genomes]
rs58321192	0.94[ASN][1000 genomes]
rs58383658	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs59021370	0.94[ASN][1000 genomes]
rs59060391	0.94[ASN][1000 genomes]
rs59168350	1.00[ASN][1000 genomes]
rs62157581	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542982	1.00[ASN][1000 genomes]
rs6753752	1.00[ASN][1000 genomes]
rs72951131	0.94[ASN][1000 genomes]
rs7425883	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS 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	28 gene(s)	inside rSNPs	diseases
4	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv33510	chr2:98317103-98341302	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised 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	chr2:98323800-98326800	Enhancers	Fetal Muscle Leg	muscle
2	chr2:98324400-98326600	Weak transcription	Pancreas	Pancrea
3	chr2:98324400-98327400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:98324600-98329200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:98324600-98329400	Enhancers	K562	blood
6	chr2:98325000-98326200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:98325000-98326200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:98325400-98326200	Weak transcription	Fetal Thymus	thymus
9	chr2:98325400-98327200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:98325400-98329000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:98325400-98329400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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