Variant report

Variant	rs1863578
Chromosome Location	chr8:86898066-86898067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:86896571..86899286-chr8:86899613..86901432,2	K562	blood:
2	chr8:86890568..86892933-chr8:86896253..86899080,2	K562	blood:
3	chr8:86887935..86890742-chr8:86895465..86898083,2	MCF-7	breast:
4	chr8:86376110..86377714-chr8:86896432..86898770,2	MCF-7	breast:
5	chr8:86890525..86892195-chr8:86896949..86899068,2	MCF-7	breast:
6	chr8:86896626..86899608-chr8:86904301..86907878,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104267	Chromatin interaction
ENSG00000253549	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11985504	0.87[EUR][1000 genomes]
rs11985607	0.91[EUR][1000 genomes]
rs11987022	0.82[EUR][1000 genomes]
rs11991581	0.91[EUR][1000 genomes]
rs11994093	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1426568	0.91[EUR][1000 genomes]
rs1426569	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484659	0.82[EUR][1000 genomes]
rs16898212	1.00[ASN][1000 genomes]
rs16905281	1.00[EUR][1000 genomes]
rs16915346	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1834635	0.91[EUR][1000 genomes]
rs1863581	0.91[EUR][1000 genomes]
rs1946380	1.00[ASN][1000 genomes]
rs34800222	0.82[EUR][1000 genomes]
rs56381325	0.82[EUR][1000 genomes]
rs57029033	0.82[EUR][1000 genomes]
rs60144208	0.91[EUR][1000 genomes]
rs62512071	0.91[EUR][1000 genomes]
rs62512074	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs62512075	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512078	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512080	0.91[EUR][1000 genomes]
rs62512081	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62512082	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62512084	0.91[EUR][1000 genomes]
rs62512085	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62512107	0.82[EUR][1000 genomes]
rs62512109	0.82[EUR][1000 genomes]
rs62512117	0.82[EUR][1000 genomes]
rs62512118	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62512119	0.82[EUR][1000 genomes]
rs62512120	0.82[EUR][1000 genomes]
rs62512121	0.82[EUR][1000 genomes]
rs62512122	0.82[EUR][1000 genomes]
rs6468685	0.91[EUR][1000 genomes]
rs6468687	0.91[EUR][1000 genomes]
rs6468720	0.91[EUR][1000 genomes]
rs6468758	0.91[EUR][1000 genomes]
rs6468824	0.82[EUR][1000 genomes]
rs6468869	0.82[EUR][1000 genomes]
rs6471527	0.82[EUR][1000 genomes]
rs6986040	0.82[EUR][1000 genomes]
rs6989129	0.82[EUR][1000 genomes]
rs6989561	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996652	0.91[EUR][1000 genomes]
rs6998535	0.91[EUR][1000 genomes]
rs6998623	0.91[EUR][1000 genomes]
rs6999182	0.91[EUR][1000 genomes]
rs7010788	0.82[EUR][1000 genomes]
rs7016015	0.91[EUR][1000 genomes]
rs716978	0.82[EUR][1000 genomes]
rs72684828	0.82[EUR][1000 genomes]
rs72684833	1.00[EUR][1000 genomes]
rs72684840	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684849	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72684857	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72684861	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72684862	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72684870	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72684873	0.82[EUR][1000 genomes]
rs7814880	0.91[EUR][1000 genomes]
rs7820948	0.91[EUR][1000 genomes]
rs7824910	1.00[ASN][1000 genomes]
rs7826153	0.91[EUR][1000 genomes]
rs7827841	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838415	0.91[EUR][1000 genomes]
rs7838425	0.91[EUR][1000 genomes]
rs962670	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 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	esv2764101	chr8:86785769-86918882	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv469603	chr8:86790049-86956911	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv482425	chr8:86790049-86956911	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv891137	chr8:86827016-86899834	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv891138	chr8:86827016-86914367	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	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
19	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
20	nsv891140	chr8:86839183-86914367	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv891141	chr8:86839183-86928990	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv891142	chr8:86839183-86928990	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
23	nsv1018786	chr8:86840948-86921046	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
24	nsv1018255	chr8:86840948-86928885	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
25	nsv891144	chr8:86841229-86906419	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
26	nsv891143	chr8:86841229-86914367	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
27	nsv891145	chr8:86841229-86928990	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
28	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
29	nsv1034700	chr8:86843256-86900652	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
30	nsv1015386	chr8:86843256-86921046	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
31	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
32	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86876400-86904000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:86895000-86898600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:86896000-86898200	Weak transcription	Brain Angular Gyrus	brain
4	chr8:86896000-86898200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:86896200-86898200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:86897200-86899400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:86897600-86898200	Weak transcription	Brain Anterior Caudate	brain
8	chr8:86897600-86898600	Weak transcription	Brain Substantia Nigra	brain
9	chr8:86897800-86898200	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:86897800-86898200	Enhancers	Fetal Lung	lung
11	chr8:86898000-86898200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:86898000-86898800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:86898000-86898800	Enhancers	Brain Germinal Matrix	brain

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