Variant report

Variant	rs1946380
Chromosome Location	chr8:86987363-86987364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:86361201..86364121-chr8:86985140..86987760,3	MCF-7	breast:
2	chr8:86373773..86378088-chr8:86980935..86988141,12	MCF-7	breast:
3	chr8:86949231..86952070-chr8:86985178..86988129,3	K562	blood:
4	chr8:86367056..86368850-chr8:86985724..86988221,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253549	Chromatin interaction
ENSG00000104267	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11985607	0.82[EUR][1000 genomes]
rs11987022	0.91[EUR][1000 genomes]
rs11991581	0.82[EUR][1000 genomes]
rs11994093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1426568	0.82[EUR][1000 genomes]
rs1426569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1484659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16898212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16899237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16905281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16915346	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17596760	1.00[CEU][hapmap]
rs1834635	0.82[EUR][1000 genomes]
rs1863578	1.00[ASN][1000 genomes]
rs1863581	0.82[EUR][1000 genomes]
rs34800222	0.91[EUR][1000 genomes]
rs4378008	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4563937	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56381325	0.91[EUR][1000 genomes]
rs57029033	0.91[EUR][1000 genomes]
rs60144208	0.82[EUR][1000 genomes]
rs62512071	0.82[EUR][1000 genomes]
rs62512074	0.82[EUR][1000 genomes]
rs62512075	1.00[ASN][1000 genomes]
rs62512076	1.00[ASN][1000 genomes]
rs62512078	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512080	0.82[EUR][1000 genomes]
rs62512081	0.82[EUR][1000 genomes]
rs62512082	0.82[EUR][1000 genomes]
rs62512084	0.82[EUR][1000 genomes]
rs62512085	0.82[EUR][1000 genomes]
rs62512107	0.91[EUR][1000 genomes]
rs62512108	0.87[EUR][1000 genomes]
rs62512109	0.91[EUR][1000 genomes]
rs62512117	0.91[EUR][1000 genomes]
rs62512118	0.91[EUR][1000 genomes]
rs62512119	0.91[EUR][1000 genomes]
rs62512120	0.91[EUR][1000 genomes]
rs62512121	0.91[EUR][1000 genomes]
rs62512122	0.91[EUR][1000 genomes]
rs6468685	0.82[EUR][1000 genomes]
rs6468687	0.82[EUR][1000 genomes]
rs6468720	0.82[EUR][1000 genomes]
rs6468758	0.82[EUR][1000 genomes]
rs6468824	0.91[EUR][1000 genomes]
rs6468869	0.91[EUR][1000 genomes]
rs6471527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6986040	0.91[EUR][1000 genomes]
rs6989561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6996652	0.82[EUR][1000 genomes]
rs6998535	0.82[EUR][1000 genomes]
rs6998623	0.82[EUR][1000 genomes]
rs6999182	0.82[EUR][1000 genomes]
rs7010788	0.91[EUR][1000 genomes]
rs7016015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7016342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7016829	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs716978	0.91[EUR][1000 genomes]
rs72684840	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684849	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72684857	0.91[EUR][1000 genomes]
rs72684861	0.91[EUR][1000 genomes]
rs72684862	0.91[EUR][1000 genomes]
rs72684870	0.91[EUR][1000 genomes]
rs72684873	0.91[EUR][1000 genomes]
rs7464656	0.87[EUR][1000 genomes]
rs7814880	0.82[EUR][1000 genomes]
rs7820948	0.82[EUR][1000 genomes]
rs7824910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7826153	0.82[EUR][1000 genomes]
rs7827841	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838415	0.82[EUR][1000 genomes]
rs7838425	0.82[EUR][1000 genomes]
rs7840687	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs962670	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	esv1801404	chr8:86976804-87023306	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv1034721	chr8:86977250-87131151	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv982106	chr8:86983974-86987379	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86983600-86988800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:86983800-86991200	Enhancers	Brain Hippocampus Middle	brain
3	chr8:86984200-87000000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:86984800-86989400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:86985200-86989400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:86985400-86988600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:86985600-86987400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:86985600-86987400	Enhancers	Osteobl	bone
9	chr8:86985600-86987600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:86985800-86989200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:86986000-86988600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:86986200-86987800	Enhancers	Hela-S3	cervix
13	chr8:86986200-86988200	Enhancers	HMEC	breast
14	chr8:86986200-86989200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:86986600-86987400	Enhancers	NHEK	skin
16	chr8:86986600-86989400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:86986800-86987400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr8:86986800-86987400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:86986800-86987400	Enhancers	Brain Angular Gyrus	brain
20	chr8:86986800-86987400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr8:86986800-86987600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:86986800-86988400	Enhancers	Brain Anterior Caudate	brain
23	chr8:86986800-86988600	Enhancers	Fetal Lung	lung
24	chr8:86986800-86989000	Enhancers	Brain Cingulate Gyrus	brain
25	chr8:86986800-86989400	Enhancers	Brain Substantia Nigra	brain
26	chr8:86987000-86987400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:86987000-86990600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:86987200-86987400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:86987200-86987400	Enhancers	Fetal Kidney	kidney

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