Variant report

Variant	rs72987629
Chromosome Location	chr2:134042736-134042737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:134035082..134037430-chr2:134042512..134044195,2	MCF-7	breast:
2	chr2:134031322..134033202-chr2:134041949..134044223,2	MCF-7	breast:
3	chr2:134038890..134041623-chr2:134041735..134044144,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16822420	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16823104	0.91[AFR][1000 genomes]
rs16823134	0.86[AFR][1000 genomes]
rs17744220	1.00[ASN][1000 genomes]
rs57010177	1.00[ASN][1000 genomes]
rs58102366	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58265762	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59127222	1.00[EUR][1000 genomes]
rs59470192	1.00[ASN][1000 genomes]
rs59599317	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60574357	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61346498	1.00[ASN][1000 genomes]
rs61471957	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61598482	1.00[ASN][1000 genomes]
rs6710084	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6726075	1.00[EUR][1000 genomes]
rs6728875	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6753746	1.00[ASN][1000 genomes]
rs72985648	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72985663	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72985665	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72985667	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72985668	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72985673	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72985674	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72985682	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72985688	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72985689	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72985690	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72987603	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72987609	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72987610	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72987616	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72987622	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1011100	chr2:133900062-134046163	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1005405	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv535929	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv516915	chr2:133999831-134054662	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv834384	chr2:134005229-134188648	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1003964	chr2:134039363-134088319	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134036000-134043800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:134039200-134043800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:134040800-134045200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:134041800-134042800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:134042000-134042800	Enhancers	Brain Cingulate Gyrus	brain
6	chr2:134042000-134046800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:134042200-134042800	Enhancers	Brain Hippocampus Middle	brain
8	chr2:134042200-134046000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:134042200-134046400	Enhancers	Hela-S3	cervix
10	chr2:134042400-134042800	Enhancers	Fetal Muscle Leg	muscle
11	chr2:134042600-134043400	Enhancers	NHDF-Ad	bronchial
12	chr2:134042600-134043800	Weak transcription	NHLF	lung

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