Variant report

Variant	rs10202643
Chromosome Location	chr2:99393898-99393899
allele	A/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	CEBPB	chr2:99393884-99394139	HepG2	liver:	n/a	chr2:99394038-99394049

No.	Distal block	Cell Line	Cell type
1	chr2:99393178..99396071-chr2:99408635..99411955,5	MCF-7	breast:
2	chr2:99384290..99389208-chr2:99389339..99394045,5	MCF-7	breast:
3	chr2:99391796..99394293-chr2:99395311..99397641,2	MCF-7	breast:

Variant related genes	Relation type
RNU4-84P	TF binding region
ENSG00000226791	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10174531	0.90[ASN][1000 genomes]
rs10175560	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10182043	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123754	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11900176	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12712034	0.80[EUR][1000 genomes]
rs12712037	0.82[CEU][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12990579	0.83[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17756034	0.84[EUR][1000 genomes]
rs2276604	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs2280142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35077008	0.85[EUR][1000 genomes]
rs35107109	0.84[EUR][1000 genomes]
rs35109359	0.85[EUR][1000 genomes]
rs35929117	0.87[EUR][1000 genomes]
rs6542837	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6714330	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6753465	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6753879	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6755640	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73962464	0.89[ASN][1000 genomes]
rs7560696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7565614	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7565736	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7585419	0.88[YRI][hapmap]
rs885115	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99385800-99394000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:99385800-99410400	Weak transcription	Right Atrium	heart
3	chr2:99391000-99395400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:99391600-99406600	Weak transcription	Thymus	Thymus
5	chr2:99392800-99396200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:99393000-99394400	Weak transcription	HepG2	liver
7	chr2:99393800-99394000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr2:99393800-99394400	Enhancers	Rectal Mucosa Donor 31	rectum

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