Variant report

Variant	rs10056666
Chromosome Location	chr5:8838659-8838660
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	chr5:8835943..8838709-chr5:8839327..8841124,2	K562	blood:

Variant related genes	Relation type
ENSG00000250198	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10035283	1.00[EUR][1000 genomes]
rs10036835	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10037623	1.00[EUR][1000 genomes]
rs10042817	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10042965	1.00[EUR][1000 genomes]
rs10057659	1.00[EUR][1000 genomes]
rs10060957	1.00[EUR][1000 genomes]
rs10071717	1.00[EUR][1000 genomes]
rs10078254	1.00[EUR][1000 genomes]
rs13355545	1.00[EUR][1000 genomes]
rs13360155	1.00[EUR][1000 genomes]
rs16881312	1.00[EUR][1000 genomes]
rs16881410	1.00[EUR][1000 genomes]
rs16881411	1.00[EUR][1000 genomes]
rs17414017	1.00[EUR][1000 genomes]
rs28594528	1.00[EUR][1000 genomes]
rs28716559	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28772988	1.00[EUR][1000 genomes]
rs57169216	1.00[EUR][1000 genomes]
rs6882376	1.00[EUR][1000 genomes]
rs6891810	1.00[EUR][1000 genomes]
rs6892140	1.00[EUR][1000 genomes]
rs73035694	1.00[EUR][1000 genomes]
rs7703531	1.00[EUR][1000 genomes]
rs7704778	1.00[EUR][1000 genomes]
rs7710498	1.00[EUR][1000 genomes]
rs7730623	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	esv3492014	chr5:8749469-9004066	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3492015	chr5:8749469-9004066	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv461944	chr5:8758041-9209831	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597069	chr5:8758041-9209831	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1016937	chr5:8824417-9402871	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv537638	chr5:8824417-9402871	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
8	nsv918004	chr5:8824417-9402871	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8827400-8843800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:8829800-8839800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:8829800-8843000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:8830400-8842600	Weak transcription	NHLF	lung
5	chr5:8832800-8839400	Weak transcription	Osteobl	bone
6	chr5:8836200-8840600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:8838200-8839200	Enhancers	Brain Substantia Nigra	brain
8	chr5:8838400-8839000	Enhancers	Brain Anterior Caudate	brain
9	chr5:8838400-8839200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:8838400-8839800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:8838600-8839400	Enhancers	Brain Angular Gyrus	brain
12	chr5:8838600-8839400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr5:8838600-8840200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:8838600-8840200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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