Variant report

Variant	rs33528
Chromosome Location	chr3:42409748-42409749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13095022	0.86[EUR][1000 genomes]
rs33527	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33529	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs33530	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33531	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1009125	chr3:41953873-42472253	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv536549	chr3:41953873-42472253	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs33528	ZNF501	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42407200-42410200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:42407200-42411000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:42408200-42411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:42408400-42410800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:42408600-42411600	Enhancers	Fetal Muscle Leg	muscle
6	chr3:42408800-42411200	Enhancers	Colon Smooth Muscle	Colon
7	chr3:42409200-42409800	Weak transcription	Fetal Brain Female	brain
8	chr3:42409200-42410600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:42409200-42411000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:42409200-42411400	Enhancers	Rectal Smooth Muscle	rectum
11	chr3:42409400-42410200	Enhancers	Brain Germinal Matrix	brain
12	chr3:42409400-42411000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:42409400-42411000	Enhancers	Brain Angular Gyrus	brain
14	chr3:42409400-42411000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr3:42409400-42411400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr3:42409400-42411600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:42409600-42409800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:42409600-42411000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:42409600-42411200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr3:42409600-42411400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:42409600-42411800	Enhancers	Fetal Brain Male	brain
22	chr3:42409600-42412000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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