Variant report

Variant	rs1806689
Chromosome Location	chr12:45937867-45937868
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45936322..45939526-chr12:46119139..46122745,5	MCF-7	breast:
2	chr12:45934191..45936111-chr12:45937786..45940550,2	MCF-7	breast:
3	chr12:45932018..45945296-chr12:46116937..46125620,30	MCF-7	breast:
4	chr12:45937468..45938113-chr12:46048779..46049454,2	MCF-7	breast:
5	chr12:45929552..45932497-chr12:45935767..45937875,2	MCF-7	breast:
6	chr12:45937724..45939277-chr12:45945572..45947346,2	MCF-7	breast:
7	chr12:45937645..45942060-chr12:45942145..45945791,6	K562	blood:

Variant related genes	Relation type
ENSG00000189079	Chromatin interaction
ENSG00000273015	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10785580	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10785581	0.81[EUR][1000 genomes]
rs10880810	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs10880811	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880814	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880815	0.88[CEU][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10880816	0.92[CEU][hapmap]
rs11183093	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183094	0.88[CEU][hapmap]
rs11183097	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11183098	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs11183099	0.82[EUR][1000 genomes]
rs11183100	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11183102	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11183103	0.88[CEU][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11183106	0.98[GIH][hapmap];0.83[MEX][hapmap]
rs2408249	0.84[EUR][1000 genomes]
rs2897908	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs3958762	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs4277177	0.87[GIH][hapmap];0.83[MEX][hapmap]
rs4600280	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4601849	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4606536	0.82[EUR][1000 genomes]
rs4768634	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4768635	0.80[EUR][1000 genomes]
rs4768636	0.81[CEU][hapmap]
rs55987675	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56295584	0.81[EUR][1000 genomes]
rs61923980	0.87[EUR][1000 genomes]
rs7297465	0.83[EUR][1000 genomes]
rs7303050	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs7960483	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs7971648	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[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	nsv832395	chr12:45841765-46039297	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv691	chr12:45896295-45946455	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv1842210	chr12:45903118-45940761	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 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	chr12:45935200-45940400	Weak transcription	Thymus	Thymus
2	chr12:45937200-45938000	Enhancers	Duodenum Mucosa	Duodenum
3	chr12:45937200-45938000	Enhancers	Fetal Thymus	thymus
4	chr12:45937200-45938000	Enhancers	Dnd41	blood
5	chr12:45937400-45938000	Enhancers	Brain Hippocampus Middle	brain
6	chr12:45937600-45938000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr12:45937600-45938000	Enhancers	NHDF-Ad	bronchial
8	chr12:45937800-45938000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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