Variant report

Variant	rs886747
Chromosome Location	chr8:1402579-1402580
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1400266..1403079-chr8:1711932..1713470,2	K562	blood:

Variant related genes	Relation type
ENSG00000182372	Chromatin interaction
ENSG00000253982	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10780153	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11136393	0.83[ASN][1000 genomes]
rs11785279	0.88[EUR][1000 genomes]
rs12544724	0.86[EUR][1000 genomes]
rs12676980	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4419835	0.84[EUR][1000 genomes]
rs4484724	0.85[EUR][1000 genomes]
rs4489342	0.85[EUR][1000 genomes]
rs4875861	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6995216	0.86[EUR][1000 genomes]
rs6995218	0.86[EUR][1000 genomes]
rs6999112	0.83[EUR][1000 genomes]
rs6999331	0.85[EUR][1000 genomes]
rs7003228	0.85[EUR][1000 genomes]
rs7009246	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7013449	0.88[EUR][1000 genomes]
rs7015452	1.00[CEU][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7017544	0.83[EUR][1000 genomes]
rs733596	0.86[EUR][1000 genomes]
rs733597	0.86[EUR][1000 genomes]
rs733598	0.85[EUR][1000 genomes]
rs733599	0.86[EUR][1000 genomes]
rs740244	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs740245	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs740247	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs740249	0.86[EUR][1000 genomes]
rs7834824	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7839699	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7843276	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs886748	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs929384	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9785112	0.88[EUR][1000 genomes]
rs9785114	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026194	chr8:600959-1467446	Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1028487	chr8:674077-1642737	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv429833	chr8:720491-1514173	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv932163	chr8:977218-1628286	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv949592	chr8:1108087-1561756	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1026673	chr8:1142469-1679673	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv1828967	chr8:1298319-1410613	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv609509	chr8:1301110-1589888	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1028612	chr8:1319801-1468340	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv539295	chr8:1319801-1468340	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1031375	chr8:1320657-1722050	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv1835443	chr8:1341878-1418894	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv469881	chr8:1374637-1561949	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv427811	chr8:1400816-1676653	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1400400-1407600	Enhancers	Fetal Brain Male	brain
2	chr8:1400600-1403000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:1401600-1403400	Weak transcription	Brain Germinal Matrix	brain
4	chr8:1401800-1403200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr8:1402000-1402600	Enhancers	Brain Anterior Caudate	brain
6	chr8:1402000-1402600	Enhancers	Brain Hippocampus Middle	brain
7	chr8:1402000-1402600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:1402000-1402800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:1402000-1403400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr8:1402000-1404200	Enhancers	Fetal Brain Female	brain
11	chr8:1402200-1402800	Enhancers	Brain Angular Gyrus	brain
12	chr8:1402400-1402800	Enhancers	Brain Substantia Nigra	brain
13	chr8:1402400-1402800	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr8:1402400-1403600	Enhancers	Brain Cingulate Gyrus	brain
15	chr8:1402400-1403800	Enhancers	Fetal Lung	lung

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