Variant report

Variant	rs1351593
Chromosome Location	chr2:213394605-213394606
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	chr2:213392043..213394903-chr2:213396609..213399566,4	MCF-7	breast:
2	chr2:213394025..213397226-chr2:213401428..213405238,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178568	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10167244	0.86[JPT][hapmap]
rs10188926	0.86[JPT][hapmap]
rs10194540	0.86[JPT][hapmap]
rs10202760	0.86[JPT][hapmap]
rs13382807	0.84[EUR][1000 genomes]
rs13383863	1.00[CHD][hapmap];0.85[JPT][hapmap]
rs13388956	0.86[JPT][hapmap]
rs13393577	1.00[CHD][hapmap];0.86[JPT][hapmap]
rs13400881	1.00[CHD][hapmap];0.86[JPT][hapmap]
rs13413335	1.00[JPT][hapmap]
rs13417523	1.00[JPT][hapmap]
rs1351592	0.84[EUR][1000 genomes]
rs1351594	0.95[EUR][1000 genomes]
rs1394780	1.00[CHD][hapmap];0.86[JPT][hapmap]
rs16848753	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1947932	0.95[EUR][1000 genomes]
rs2128322	0.96[ASN][1000 genomes]
rs2128323	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2178575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2178576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2888093	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs4233986	0.95[EUR][1000 genomes]
rs4404217	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4672648	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs6435708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6435709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6712295	0.86[JPT][hapmap]
rs6724920	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6745293	0.95[EUR][1000 genomes]
rs6756468	1.00[CHD][hapmap];0.86[JPT][hapmap]
rs6761143	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7561571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7565257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7571561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7571642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7573568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7598042	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs979125	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213384400-213395400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:213391600-213399200	Enhancers	Fetal Heart	heart
3	chr2:213393000-213399000	Weak transcription	Psoas Muscle	Psoas
4	chr2:213393000-213400800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:213393200-213394800	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:213393200-213394800	Weak transcription	Right Ventricle	heart
7	chr2:213393200-213395200	Weak transcription	Brain Substantia Nigra	brain
8	chr2:213393200-213396000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:213393200-213399000	Weak transcription	Brain Angular Gyrus	brain
10	chr2:213393200-213400600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:213393400-213394800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:213394200-213395400	Weak transcription	Brain Anterior Caudate	brain
13	chr2:213394600-213395200	Active TSS	Aorta	Aorta

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