Variant report

Variant	rs1017679
Chromosome Location	chr15:51968419-51968420
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	chr15:51965668..51968596-chr15:51971807..51974578,3	K562	blood:
2	chr15:51960620..51962408-chr15:51966194..51968469,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104112	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10519314	0.85[CHB][hapmap]
rs10519315	0.85[CHB][hapmap]
rs10519316	0.85[CHB][hapmap]
rs10519318	0.85[CHB][hapmap]
rs10519319	0.85[CHB][hapmap]
rs10519320	0.85[CHB][hapmap]
rs10519321	0.85[CHB][hapmap]
rs10851501	0.94[CEU][hapmap]
rs11070861	0.82[EUR][1000 genomes]
rs12324531	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs12441057	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs12708427	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs12901452	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12904173	0.85[CEU][hapmap]
rs1378892	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1378893	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1378894	0.85[EUR][1000 genomes]
rs1378895	0.85[EUR][1000 genomes]
rs1456295	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs1456297	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1471072	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];0.97[ASN][1000 genomes]
rs1531157	0.80[EUR][1000 genomes]
rs16964465	0.85[CHB][hapmap]
rs16964476	0.85[CHB][hapmap]
rs17524906	0.90[CEU][hapmap]
rs17648565	0.85[CHB][hapmap]
rs17648801	0.85[CHB][hapmap]
rs17705035	0.85[CHB][hapmap]
rs1840707	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1902595	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs1902596	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs2124588	0.85[CHB][hapmap]
rs2252220	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs2305709	0.85[CHB][hapmap]
rs2305719	0.85[CHB][hapmap]
rs2414112	0.83[EUR][1000 genomes]
rs2606134	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2606136	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2606137	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2606138	0.90[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2606139	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2606141	0.87[EUR][1000 genomes]
rs2606143	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs2606145	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2606146	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2607110	0.85[EUR][1000 genomes]
rs2607112	0.83[EUR][1000 genomes]
rs2607116	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2607117	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2622768	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2622769	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2622770	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3764220	0.85[CHB][hapmap]
rs3809498	0.85[CHB][hapmap]
rs3816544	0.85[CHB][hapmap]
rs41286492	0.85[CHB][hapmap]
rs4775954	0.90[CEU][hapmap]
rs6493511	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs6493512	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs6493514	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7163359	0.85[CHB][hapmap]
rs716986	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7180329	0.91[CEU][hapmap]
rs7181921	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8025974	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8027162	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8029731	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs897581	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs956171	0.90[CEU][hapmap]
rs9672605	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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 miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv904219	chr15:51851999-51977159	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
3	nsv457139	chr15:51854718-51977159	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
4	nsv569407	chr15:51854718-51977159	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
5	nsv1035967	chr15:51949866-52008736	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51965400-51969600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr15:51965600-51972200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:51966600-51973400	Weak transcription	Right Atrium	heart
4	chr15:51967400-51973000	Weak transcription	K562	blood
5	chr15:51967800-51973000	Weak transcription	H1 Cell Line	embryonic stem cell

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