Variant report

Variant	rs62157580
Chromosome Location	chr2:98325330-98325331
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	ATF3	chr2:98325147-98325413	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr2:98325096-98325347	A549	lung:	n/a	chr2:98325223-98325234
3	USF1	chr2:98325133-98325332	A549	lung:	n/a	chr2:98325223-98325234
4	USF1	chr2:98325064-98325367	ECC-1	luminal epithelium:	n/a	chr2:98325223-98325234
5	BHLHE40	chr2:98325137-98325331	K562	blood:	n/a	n/a
6	RCOR1	chr2:98325219-98325337	K562	blood:	n/a	n/a
7	NFYB	chr2:98325077-98325608	K562	blood:	n/a	chr2:98325302-98325317
8	USF1	chr2:98325127-98325333	HepG2	liver:	n/a	chr2:98325223-98325234
9	NFYA	chr2:98325134-98325607	K562	blood:	n/a	chr2:98325305-98325323
10	USF2	chr2:98325195-98325380	K562	blood:	n/a	n/a
11	NFYB	chr2:98325097-98325535	GM12878	blood:	n/a	chr2:98325302-98325317
12	USF1	chr2:98325026-98325408	H1-hESC	embryonic stem cell:	n/a	chr2:98325223-98325234
13	USF1	chr2:98325093-98325463	K562	blood:	n/a	chr2:98325223-98325234
14	ATF3	chr2:98325146-98325378	K562	blood:	n/a	n/a
15	NFYA	chr2:98325264-98325483	Hela-S3	cervix:	n/a	chr2:98325305-98325323
16	USF1	chr2:98324968-98325417	K562	blood:	n/a	chr2:98325223-98325234
17	USF2	chr2:98325095-98325434	H1-hESC	embryonic stem cell:	n/a	n/a
18	USF1	chr2:98325007-98325455	ECC-1	luminal epithelium:	n/a	chr2:98325223-98325234
19	NFYB	chr2:98325131-98325441	Hela-S3	cervix:	n/a	chr2:98325302-98325317
20	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	chr2:98323754..98326397-chr2:98334462..98336180,3	MCF-7	breast:

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1020396	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10496323	0.97[ASN][1000 genomes]
rs11123861	0.82[ASN][1000 genomes]
rs11547232	0.97[ASN][1000 genomes]
rs11680855	1.00[ASN][1000 genomes]
rs12994966	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12997695	0.80[ASN][1000 genomes]
rs13000505	0.97[ASN][1000 genomes]
rs13034349	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1463173	0.82[ASN][1000 genomes]
rs1463174	1.00[ASN][1000 genomes]
rs1800649	0.95[ASN][1000 genomes]
rs2276645	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35211079	0.97[ASN][1000 genomes]
rs55772322	0.95[ASN][1000 genomes]
rs56281704	0.97[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	chr2:98324200-98325400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:98324400-98325400	Enhancers	Fetal Thymus	thymus
4	chr2:98324400-98326600	Weak transcription	Pancreas	Pancrea
5	chr2:98324400-98327400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:98324600-98325400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:98324600-98329200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:98324600-98329400	Enhancers	K562	blood
9	chr2:98324800-98325400	Enhancers	Fetal Muscle Trunk	muscle
10	chr2:98325000-98326200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:98325000-98326200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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