Variant report

Variant	rs12696982
Chromosome Location	chr5:60558282-60558283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60549933..60553711-chr5:60556075..60559631,4	MCF-7	breast:
2	chr5:60555601..60558433-chr5:60563419..60566177,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10041973	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10056472	0.95[ASN][1000 genomes]
rs10079115	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10939888	0.87[AMR][1000 genomes]
rs10939890	0.87[AMR][1000 genomes]
rs10939894	0.98[ASN][1000 genomes]
rs10939895	1.00[ASN][1000 genomes]
rs11747588	0.95[ASN][1000 genomes]
rs11949390	0.85[CHB][hapmap];0.98[ASN][1000 genomes]
rs11960587	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12189420	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12189426	0.87[AMR][1000 genomes]
rs12696979	0.87[AMR][1000 genomes]
rs12696980	0.87[AMR][1000 genomes]
rs12696981	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13156118	0.82[ASN][1000 genomes]
rs13167234	0.93[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs13167244	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13167246	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13179814	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13187871	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13355792	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4235485	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4315878	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4379148	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4441832	0.87[AMR][1000 genomes]
rs4540126	0.87[AMR][1000 genomes]
rs4640746	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4700415	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs62366231	0.95[ASN][1000 genomes]
rs62366234	0.86[ASN][1000 genomes]
rs6449523	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67749311	0.95[ASN][1000 genomes]
rs6892128	0.88[MEX][hapmap]
rs72759289	0.90[ASN][1000 genomes]
rs72759299	1.00[ASN][1000 genomes]
rs72761408	0.90[ASN][1000 genomes]
rs7721603	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60550400-60573400	Weak transcription	Gastric	stomach
2	chr5:60556000-60570200	Weak transcription	HSMM	muscle
3	chr5:60557000-60558400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:60557800-60558800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:60557800-60558800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:60557800-60559600	Weak transcription	Brain Hippocampus Middle	brain
7	chr5:60558000-60566400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:60558200-60559400	Weak transcription	Stomach Mucosa	stomach
9	chr5:60558200-60559400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr5:60558200-60559600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:60558200-60559600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:60558200-60559600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:60558200-60559600	Enhancers	Brain Anterior Caudate	brain
14	chr5:60558200-60559600	Weak transcription	Right Atrium	heart
15	chr5:60558200-60560600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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