Variant report

Variant	rs62512121
Chromosome Location	chr8:86970170-86970171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:86966140..86969055-chr8:86969579..86971191,2	K562	blood:
2	chr8:86954541..86958539-chr8:86967866..86971092,3	K562	blood:
3	chr8:86963269..86965688-chr8:86969084..86971326,2	K562	blood:
4	chr8:86374565..86377106-chr8:86968450..86971063,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253549	Chromatin interaction
ENSG00000104267	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11985504	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985607	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991581	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994093	0.91[EUR][1000 genomes]
rs1426565	1.00[ASN][1000 genomes]
rs1426568	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484659	0.82[EUR][1000 genomes]
rs16898212	0.86[EUR][1000 genomes]
rs16905281	0.82[EUR][1000 genomes]
rs16915346	0.91[EUR][1000 genomes]
rs1834635	0.91[EUR][1000 genomes]
rs1863578	0.82[EUR][1000 genomes]
rs1863581	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1946380	0.91[EUR][1000 genomes]
rs34800222	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56381325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57029033	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60144208	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512071	0.91[EUR][1000 genomes]
rs62512074	0.91[EUR][1000 genomes]
rs62512075	0.82[EUR][1000 genomes]
rs62512076	0.82[EUR][1000 genomes]
rs62512078	0.91[EUR][1000 genomes]
rs62512080	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512081	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512082	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512084	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512085	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512106	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512107	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512108	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512109	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512118	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512119	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468685	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468687	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468720	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468758	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468824	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468869	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471527	0.82[EUR][1000 genomes]
rs6986040	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989129	0.82[EUR][1000 genomes]
rs6989561	0.82[EUR][1000 genomes]
rs6996652	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998535	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998623	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999182	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010788	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016015	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716978	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684828	0.82[EUR][1000 genomes]
rs72684833	0.82[EUR][1000 genomes]
rs72684840	0.91[EUR][1000 genomes]
rs72684849	0.91[EUR][1000 genomes]
rs72684857	1.00[EUR][1000 genomes]
rs72684861	1.00[EUR][1000 genomes]
rs72684862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684870	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684873	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684877	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7464656	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814880	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820948	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824910	0.88[EUR][1000 genomes]
rs7826153	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827841	0.91[EUR][1000 genomes]
rs7838415	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7838425	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs962670	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv1807498	chr8:86405478-86986703	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv1828364	chr8:86405478-86986703	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv1831268	chr8:86405478-86986703	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1844000	chr8:86405478-86986703	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv1851686	chr8:86405478-86986703	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv427824	chr8:86405478-86986703	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv2758162	chr8:86405478-87055053	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	esv2759624	chr8:86405478-87055053	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv482395	chr8:86766289-86986303	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv891139	chr8:86827016-87001113	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1028959	chr8:86835367-87142383	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv891146	chr8:86841229-87083747	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
17	nsv891147	chr8:86886950-87333968	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
18	esv2753776	chr8:86918562-87020337	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86967600-86970200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:86969400-86970600	ZNF genes & repeats	K562	blood
3	chr8:86970000-86970600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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