Variant report

Variant	rs13392407
Chromosome Location	chr2:213396812-213396813
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:213394025..213397226-chr2:213401428..213405238,3	MCF-7	breast:
2	chr2:213392043..213394903-chr2:213396609..213399566,4	MCF-7	breast:
3	chr2:213392919..213394585-chr2:213396394..213398532,2	K562	blood:

Variant related genes	Relation type
ENSG00000178568	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10153722	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10165364	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10172512	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10178298	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10190653	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10196652	0.95[EUR][1000 genomes]
rs10497976	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11689233	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13382605	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13388843	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13394464	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13401008	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13411815	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13420607	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13422427	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1482381	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1552161	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1586045	0.97[EUR][1000 genomes]
rs16848611	0.95[EUR][1000 genomes]
rs16848707	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16848787	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17260933	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17325381	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1813049	0.89[EUR][1000 genomes]
rs1813050	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1882352	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1921630	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1997470	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2086612	0.97[EUR][1000 genomes]
rs2101151	0.97[EUR][1000 genomes]
rs2204853	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57473409	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57921759	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6715328	0.89[EUR][1000 genomes]
rs6733009	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73989031	0.83[AFR][1000 genomes]
rs73989034	0.83[AFR][1000 genomes]
rs73989047	0.83[AFR][1000 genomes]
rs73989049	0.83[AFR][1000 genomes]
rs73989051	0.81[AFR][1000 genomes]
rs7564771	0.84[EUR][1000 genomes]
rs7568763	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs972488	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs972489	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9808433	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs999946	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432024	chr2:213314899-213446726	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1014479	chr2:213370690-213413231	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv875812	chr2:213395507-213434856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213391600-213399200	Enhancers	Fetal Heart	heart
2	chr2:213393000-213399000	Weak transcription	Psoas Muscle	Psoas
3	chr2:213393000-213400800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:213393200-213399000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:213393200-213400600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:213395200-213399600	Enhancers	Brain Substantia Nigra	brain
7	chr2:213395400-213397000	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:213395400-213397400	Enhancers	Brain Anterior Caudate	brain
9	chr2:213395400-213398200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:213395400-213398800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:213396000-213399000	Weak transcription	Aorta	Aorta
12	chr2:213396600-213397000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:213396600-213400000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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