Variant report

Variant	rs12696981
Chromosome Location	chr5:60557974-60557975
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	chr5:60549933..60553711-chr5:60556075..60559631,4	MCF-7	breast:
2	chr5:60555601..60558433-chr5:60563419..60566177,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10041973	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10056472	1.00[ASN][1000 genomes]
rs10079115	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10939888	0.85[AMR][1000 genomes]
rs10939890	0.85[AMR][1000 genomes]
rs10939894	0.98[ASN][1000 genomes]
rs10939895	0.95[ASN][1000 genomes]
rs11747588	0.90[ASN][1000 genomes]
rs11949390	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs11960587	0.82[CHB][hapmap]
rs12189420	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12189426	0.85[AMR][1000 genomes]
rs12696979	0.85[AMR][1000 genomes]
rs12696980	0.85[AMR][1000 genomes]
rs12696982	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13167234	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13167244	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13167246	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13179814	0.85[CHB][hapmap];0.91[ASN][1000 genomes]
rs13187871	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13355792	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235485	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4315878	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4379148	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4441832	0.85[AMR][1000 genomes]
rs4540126	0.85[AMR][1000 genomes]
rs4640746	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4700415	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs62366231	0.91[ASN][1000 genomes]
rs62366234	0.81[ASN][1000 genomes]
rs6449523	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67749311	1.00[ASN][1000 genomes]
rs72759289	0.95[ASN][1000 genomes]
rs72759299	0.95[ASN][1000 genomes]
rs72761408	0.85[ASN][1000 genomes]
rs7721603	1.00[CHB][hapmap];0.95[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:14 , 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	chr5:60557200-60558200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr5:60557400-60558200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:60557400-60558200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr5:60557600-60558000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:60557600-60558200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:60557600-60558200	Enhancers	Right Atrium	heart
10	chr5:60557600-60558200	Enhancers	Stomach Mucosa	stomach
11	chr5:60557800-60558000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:60557800-60558800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:60557800-60558800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:60557800-60559600	Weak transcription	Brain Hippocampus Middle	brain

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