Variant report

Variant	rs2128277
Chromosome Location	chr12:40384738-40384739
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40158493..40159396-chr12:40384037..40384925,5	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1005956	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs10506140	0.88[CHB][hapmap];0.92[JPT][hapmap]
rs10747971	0.84[JPT][hapmap]
rs10784338	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs10784353	0.92[JPT][hapmap]
rs10784356	0.92[JPT][hapmap]
rs10784359	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10784369	0.92[JPT][hapmap]
rs10877891	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[ASN][1000 genomes]
rs10877990	0.92[JPT][hapmap]
rs10878049	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10878089	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11174609	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[ASN][1000 genomes]
rs11174702	0.91[ASN][1000 genomes]
rs11174809	0.84[ASN][1000 genomes]
rs11174812	0.85[ASN][1000 genomes]
rs11174813	0.82[ASN][1000 genomes]
rs11175024	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12813098	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12823555	1.00[JPT][hapmap]
rs1482281	0.85[JPT][hapmap]
rs1586038	0.92[JPT][hapmap]
rs1600866	0.92[JPT][hapmap]
rs1813122	0.85[JPT][hapmap]
rs2128275	0.87[ASN][1000 genomes]
rs2404352	0.92[JPT][hapmap]
rs2896825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2896905	0.83[CHB][hapmap]
rs3925535	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4625545	0.94[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs4768200	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs4768204	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs530602	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs550669	0.85[JPT][hapmap]
rs555740	0.84[JPT][hapmap]
rs6581504	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs6650226	0.85[JPT][hapmap]
rs7139216	0.85[ASN][1000 genomes]
rs716268	1.00[JPT][hapmap]
rs7313209	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7313231	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7953129	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs7959498	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7960662	0.92[JPT][hapmap]
rs7964150	0.84[JPT][hapmap]
rs7970812	0.94[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs9669240	0.89[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 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	chr12:40364400-40391400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:40366400-40390200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:40380800-40393400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:40383200-40385800	Weak transcription	Fetal Brain Male	brain
5	chr12:40384200-40384800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr12:40384400-40391800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:40384400-40405200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:40384400-40405400	Weak transcription	Pancreas	Pancrea
9	chr12:40384600-40385800	Weak transcription	Brain Angular Gyrus	brain
10	chr12:40384600-40385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:40384600-40386000	Weak transcription	Lung	lung

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