Variant report

Variant	rs33478
Chromosome Location	chr3:42412428-42412429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs33450	0.82[ASN][1000 genomes]
rs33451	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33453	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33454	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33455	0.94[EUR][1000 genomes]
rs33456	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs33457	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33459	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33460	0.94[EUR][1000 genomes]
rs33461	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33462	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33463	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33464	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs33466	0.94[EUR][1000 genomes]
rs33467	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33468	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33469	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33470	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33471	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33472	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33473	0.94[EUR][1000 genomes]
rs33474	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs33475	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33476	0.94[EUR][1000 genomes]
rs33477	0.94[EUR][1000 genomes]
rs33479	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33480	0.94[EUR][1000 genomes]
rs33532	0.81[ASN][1000 genomes]
rs33533	0.82[ASN][1000 genomes]
rs39647	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39648	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42410800-42414600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:42411400-42412600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr3:42411400-42413000	Weak transcription	Primary T cells from cord blood	blood
4	chr3:42411400-42413000	Weak transcription	Brain Anterior Caudate	brain
5	chr3:42411400-42413000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:42411400-42413000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:42411400-42413600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:42411400-42414600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:42411400-42415000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:42411400-42415000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:42411400-42415400	Weak transcription	Right Atrium	heart
12	chr3:42411400-42416200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr3:42411400-42420600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:42411600-42412600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:42411600-42419800	Weak transcription	Brain Germinal Matrix	brain
16	chr3:42412000-42415000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:42412400-42412600	Enhancers	Brain Cingulate Gyrus	brain
18	chr3:42412400-42412600	Enhancers	Placenta	Placenta
19	chr3:42412400-42412600	Enhancers	Rectal Smooth Muscle	rectum
20	chr3:42412400-42413000	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:42412400-42413800	Enhancers	Colon Smooth Muscle	Colon
22	chr3:42412400-42414800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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