Variant report

Variant	rs72905541
Chromosome Location	chr2:189146333-189146334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189145849..189147932-chr2:189157783..189159362,2	MCF-7	breast:
2	chr2:189136024..189140012-chr2:189145051..189148028,3	K562	blood:
3	chr2:189142080..189146358-chr2:189153937..189158201,5	K562	blood:
4	chr2:189136024..189138815-chr2:189144719..189147357,4	K562	blood:
5	chr2:189127077..189128792-chr2:189145398..189147368,2	K562	blood:
6	chr2:189125887..189128792-chr2:189144511..189146898,3	K562	blood:
7	chr2:189144338..189148147-chr2:189152905..189159423,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10185443	0.87[ASN][1000 genomes]
rs10931345	0.87[ASN][1000 genomes]
rs10931347	0.91[ASN][1000 genomes]
rs10931350	0.83[ASN][1000 genomes]
rs11675685	0.87[ASN][1000 genomes]
rs11680857	0.87[ASN][1000 genomes]
rs11687797	0.95[ASN][1000 genomes]
rs11688935	0.91[ASN][1000 genomes]
rs11901438	0.95[ASN][1000 genomes]
rs11902539	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12105671	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12613686	0.95[ASN][1000 genomes]
rs12619948	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12693496	0.83[ASN][1000 genomes]
rs4233800	0.91[ASN][1000 genomes]
rs4353610	0.91[ASN][1000 genomes]
rs4353611	0.91[ASN][1000 genomes]
rs4396678	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4446047	0.83[ASN][1000 genomes]
rs4505490	0.91[ASN][1000 genomes]
rs55901476	0.95[ASN][1000 genomes]
rs62179645	0.87[ASN][1000 genomes]
rs62179646	0.87[ASN][1000 genomes]
rs62179648	0.95[ASN][1000 genomes]
rs62179650	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6434274	0.91[ASN][1000 genomes]
rs6434275	0.91[ASN][1000 genomes]
rs6434276	0.91[ASN][1000 genomes]
rs6727073	0.91[ASN][1000 genomes]
rs72903543	0.87[ASN][1000 genomes]
rs72905544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905553	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905582	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72905599	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72907662	0.83[ASN][1000 genomes]
rs7419883	0.91[ASN][1000 genomes]
rs7557622	0.95[ASN][1000 genomes]
rs7575702	0.91[ASN][1000 genomes]
rs7577484	0.91[ASN][1000 genomes]
rs7585851	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv1811040	chr2:189119837-189150420	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189121800-189147800	Weak transcription	K562	blood
2	chr2:189144000-189155400	Weak transcription	Aorta	Aorta
3	chr2:189144200-189156000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:189144400-189147800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:189145000-189154600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:189145000-189155400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:189145800-189147400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:189145800-189149200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:189146000-189150400	Weak transcription	Stomach Mucosa	stomach
10	chr2:189146200-189147200	Weak transcription	A549	lung

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