Variant report

Variant	rs4806115
Chromosome Location	chr19:35722226-35722227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35720837..35725765-chr19:35738586..35741342,4	K562	blood:

Variant related genes	Relation type
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10416533	0.93[EUR][1000 genomes]
rs10421791	0.90[GIH][hapmap]
rs11084809	0.90[GIH][hapmap]
rs12459658	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17173026	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1882695	0.93[EUR][1000 genomes]
rs2005927	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2280746	0.91[EUR][1000 genomes]
rs2861485	0.90[GIH][hapmap]
rs4805116	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4806114	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4806119	0.90[GIH][hapmap]
rs4806121	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4806125	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55745204	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55863037	0.91[EUR][1000 genomes]
rs55877896	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56002756	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66868858	0.91[EUR][1000 genomes]
rs7251826	0.90[GIH][hapmap]
rs73029949	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73045840	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73045852	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73045860	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7508022	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv1066553	chr19:35698638-35749563	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	esv2763203	chr19:35700047-35738400	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
9	nsv9710	chr19:35720181-35724894	Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv524195	chr19:35722226-35724000	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4806115	ZNF383	cis	parietal	SCAN
rs4806115	FBXO17	cis	cerebellum	SCAN
rs4806115	CD177	cis	parietal	SCAN
rs4806115	LYPD4	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35716400-35724400	Weak transcription	Lung	lung
2	chr19:35717000-35722800	Weak transcription	Spleen	Spleen
3	chr19:35720800-35723000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:35721800-35723800	Weak transcription	Fetal Intestine Small	intestine

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