Variant report

Variant	rs1935537
Chromosome Location	chr6:73821193-73821194
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1935538	1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55704237	1.00[ASN][1000 genomes]
rs60764744	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6917652	1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6919630	1.00[GIH][hapmap]
rs73454732	1.00[ASN][1000 genomes]
rs73454734	1.00[ASN][1000 genomes]
rs7764373	1.00[GIH][hapmap]
rs7768173	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1935537	FEZ1	trans	lymphoblastoid	seeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73791000-73830600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:73813000-73830200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:73814600-73830200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:73814800-73831200	Weak transcription	HSMM	muscle
5	chr6:73815200-73839400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:73816200-73822400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:73816600-73831000	Weak transcription	HSMMtube	muscle
8	chr6:73817200-73822200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:73818000-73846400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:73819800-73821200	Enhancers	Fetal Heart	heart
11	chr6:73819800-73830200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:73819800-73830600	Weak transcription	HMEC	breast
13	chr6:73820800-73830600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:73821000-73821400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:73821000-73821400	Enhancers	Aorta	Aorta
16	chr6:73821000-73821600	Strong transcription	Primary T cells from cord blood	blood
17	chr6:73821000-73821800	Strong transcription	Primary B cells from cord blood	blood
18	chr6:73821000-73849800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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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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