Variant report

Variant	rs17618340
Chromosome Location	chr1:75247617-75247618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10161	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12125889	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129513	0.87[AMR][1000 genomes]
rs1574941	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1590639	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2345438	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28535522	0.88[AMR][1000 genomes]
rs28594379	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28640981	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28804435	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35497701	0.86[AMR][1000 genomes]
rs3845356	0.87[YRI][hapmap]
rs3889133	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55895041	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6668736	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749690	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv871743	chr1:75235082-75714554	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs17618340	CRYZ	cis	Nerve Tibial	GTEx
rs17618340	CRYZ	cis	multi-tissue	Pritchard
rs17618340	CRYZ	cis	Skin Sun Exposed Lower leg	GTEx
rs17618340	CRYZ	cis	lesional skin	skin_eQTL
rs17618340	CRYZ	cis	Adipose Subcutaneous	GTEx
rs17618340	CRYZ	cis	uninvolved skin	skin_eQTL
rs17618340	CRYZ	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75245600-75248000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr1:75246000-75247800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr1:75246000-75248000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:75246800-75247800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:75247200-75248200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:75247400-75248000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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