Variant report

Variant	rs6759147
Chromosome Location	chr2:189147695-189147696
allele	C/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	chr2:189147369..189150178-chr2:189166484..189168469,2	K562	blood:
4	chr2:189146724..189148468-chr2:189151922..189155622,3	K562	blood:
5	chr2:189144338..189148147-chr2:189152905..189159423,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231689	Chromatin interaction
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10153666	1.00[AMR][1000 genomes]
rs10153862	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10171583	1.00[AMR][1000 genomes]
rs10174521	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10184797	1.00[AMR][1000 genomes]
rs10190630	1.00[AMR][1000 genomes]
rs10192679	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs10197598	1.00[AMR][1000 genomes]
rs10198965	1.00[AMR][1000 genomes]
rs10211425	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs10211482	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10439261	1.00[AMR][1000 genomes]
rs13386579	1.00[AMR][1000 genomes]
rs13390367	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13391799	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs13392080	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs13393442	0.82[YRI][hapmap]
rs13399903	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs13401242	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401321	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs13401975	1.00[AMR][1000 genomes]
rs13402240	1.00[AMR][1000 genomes]
rs13403672	1.00[AMR][1000 genomes]
rs13404901	1.00[AMR][1000 genomes]
rs13411351	1.00[AMR][1000 genomes]
rs13414813	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs13418323	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs13423468	1.00[AMR][1000 genomes]
rs13424443	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs28528331	1.00[AMR][1000 genomes]
rs59080597	1.00[AMR][1000 genomes]
rs6705869	1.00[AMR][1000 genomes]
rs6710795	0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6742748	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs6748075	1.00[AMR][1000 genomes]
rs6755644	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7589600	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs9288156	1.00[AMR][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:9 , 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	chr2:189145800-189149200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:189146000-189150400	Weak transcription	Stomach Mucosa	stomach
9	chr2:189147400-189148600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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