Variant report

Variant	rs7517806
Chromosome Location	chr1:10074504-10074505
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	chr1:10071470..10073118-chr1:10073579..10076268,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10779734	0.80[ASN][1000 genomes]
rs11121512	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11121514	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11828	0.81[ASN][1000 genomes]
rs12140058	0.88[ASN][1000 genomes]
rs1220399	0.81[ASN][1000 genomes]
rs1220420	0.83[ASN][1000 genomes]
rs1220421	0.83[ASN][1000 genomes]
rs1234694	0.82[ASN][1000 genomes]
rs1660733	0.83[ASN][1000 genomes]
rs2890358	0.84[ASN][1000 genomes]
rs3003376	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3003377	0.82[ASN][1000 genomes]
rs3003378	0.91[ASN][1000 genomes]
rs3013784	0.81[ASN][1000 genomes]
rs3013788	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3123522	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58528460	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6541073	0.84[ASN][1000 genomes]
rs6661806	0.86[ASN][1000 genomes]
rs6664631	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6678023	0.85[ASN][1000 genomes]
rs6680076	0.80[ASN][1000 genomes]
rs7517360	0.89[ASN][1000 genomes]
rs7517812	0.86[ASN][1000 genomes]
rs7528979	0.80[ASN][1000 genomes]
rs7539191	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1012301	chr1:9963962-10118393	Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv534853	chr1:9963962-10118393	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers 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	38 gene(s)	inside rSNPs	diseases
6	nsv1001742	chr1:9971776-10116767	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers 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	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7517806	LZIC	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10059200-10075000	Weak transcription	Fetal Heart	heart
2	chr1:10061600-10077000	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:10061800-10077200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:10068000-10075600	Weak transcription	Left Ventricle	heart
5	chr1:10071200-10076400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr1:10071400-10075600	Weak transcription	Fetal Kidney	kidney
7	chr1:10071800-10074800	Weak transcription	Adipose Nuclei	Adipose
8	chr1:10072800-10080200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:10073200-10076400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:10073600-10076400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:10074000-10074600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:10074000-10076400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:10074200-10075600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:10074400-10075600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:10074400-10075600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:10074400-10075600	Weak transcription	HSMMtube	muscle
17	chr1:10074400-10078200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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