Variant report

Variant	rs73952789
Chromosome Location	chr2:127730575-127730576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127728843..127730664-chr2:127736005..127737630,2	MCF-7	breast:
2	chr17:42421751..42423895-chr2:127728596..127731576,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000030582	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10168813	0.84[ASN][1000 genomes]
rs10803617	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10803618	0.88[ASN][1000 genomes]
rs12053575	0.88[ASN][1000 genomes]
rs12620265	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12692123	0.84[ASN][1000 genomes]
rs1545149	0.83[AMR][1000 genomes]
rs1553844	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1912498	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28758224	0.84[ASN][1000 genomes]
rs4662695	0.88[ASN][1000 genomes]
rs4662696	0.88[ASN][1000 genomes]
rs4662698	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662699	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4663070	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4663075	0.88[ASN][1000 genomes]
rs4663076	0.88[ASN][1000 genomes]
rs4663077	0.88[ASN][1000 genomes]
rs4663079	0.88[ASN][1000 genomes]
rs4663080	0.88[ASN][1000 genomes]
rs4663081	0.88[ASN][1000 genomes]
rs4663082	0.88[ASN][1000 genomes]
rs4663083	0.88[ASN][1000 genomes]
rs55962144	0.91[ASN][1000 genomes]
rs61633215	0.94[ASN][1000 genomes]
rs6431201	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6431206	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6431207	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6431208	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6431209	0.88[ASN][1000 genomes]
rs6431210	0.88[ASN][1000 genomes]
rs6431211	0.94[ASN][1000 genomes]
rs6431212	0.94[ASN][1000 genomes]
rs6732056	0.82[ASN][1000 genomes]
rs6736826	0.82[ASN][1000 genomes]
rs6749935	0.88[ASN][1000 genomes]
rs6753685	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72976756	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72980845	0.94[ASN][1000 genomes]
rs72980853	1.00[EUR][1000 genomes]
rs72980861	1.00[EUR][1000 genomes]
rs73952788	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73952791	0.83[AMR][1000 genomes]
rs7419804	0.88[ASN][1000 genomes]
rs7420039	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7423317	0.88[ASN][1000 genomes]
rs7424763	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7556956	0.88[ASN][1000 genomes]
rs7557069	0.88[ASN][1000 genomes]
rs7565248	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7590060	0.84[ASN][1000 genomes]
rs870468	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9967839	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv834366	chr2:127633714-127784692	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:127727800-127730600	Enhancers	Fetal Brain Male	brain
2	chr2:127729800-127731000	Enhancers	Fetal Muscle Leg	muscle
3	chr2:127730000-127733000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:127730000-127733200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:127730000-127733600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:127730200-127730600	Enhancers	Liver	Liver
7	chr2:127730200-127731600	Weak transcription	Brain Substantia Nigra	brain
8	chr2:127730200-127732000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:127730200-127733000	Weak transcription	Fetal Lung	lung
10	chr2:127730200-127733800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:127730200-127735600	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:127730400-127733600	Enhancers	HepG2	liver

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