Variant report

Variant	rs33480
Chromosome Location	chr3:42413845-42413846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2029127	0.85[MEX][hapmap]
rs33451	0.94[EUR][1000 genomes]
rs33453	0.94[EUR][1000 genomes]
rs33454	0.94[EUR][1000 genomes]
rs33455	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs33456	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs33457	0.94[EUR][1000 genomes]
rs33459	0.94[EUR][1000 genomes]
rs33460	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs33461	0.94[EUR][1000 genomes]
rs33462	0.94[EUR][1000 genomes]
rs33463	0.94[EUR][1000 genomes]
rs33466	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs33467	0.94[EUR][1000 genomes]
rs33468	0.94[EUR][1000 genomes]
rs33469	0.94[EUR][1000 genomes]
rs33470	0.94[EUR][1000 genomes]
rs33471	0.94[EUR][1000 genomes]
rs33472	0.94[EUR][1000 genomes]
rs33473	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33474	0.94[EUR][1000 genomes]
rs33475	0.89[EUR][1000 genomes]
rs33476	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33477	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33478	0.94[EUR][1000 genomes]
rs33479	0.94[EUR][1000 genomes]
rs39647	0.94[EUR][1000 genomes]
rs39648	0.94[EUR][1000 genomes]
rs6772571	1.00[CHB][hapmap]
rs9757702	0.85[MEX][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	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:26 , 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	chr3:42411400-42414600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:42411400-42415000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:42411400-42415000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:42411400-42415400	Weak transcription	Right Atrium	heart
6	chr3:42411400-42416200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:42411400-42420600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:42411600-42419800	Weak transcription	Brain Germinal Matrix	brain
9	chr3:42412000-42415000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:42412400-42414800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:42412600-42414400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr3:42412600-42414800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr3:42412800-42414200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:42412800-42414200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr3:42412800-42416200	Weak transcription	Placenta	Placenta
16	chr3:42413000-42414000	Enhancers	Brain Anterior Caudate	brain
17	chr3:42413000-42414200	Enhancers	HSMMtube	muscle
18	chr3:42413000-42414400	Enhancers	Brain Angular Gyrus	brain
19	chr3:42413000-42414400	Enhancers	Brain Hippocampus Middle	brain
20	chr3:42413000-42414400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr3:42413200-42414400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr3:42413600-42414000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr3:42413600-42414200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:42413600-42414200	Enhancers	Brain Substantia Nigra	brain
25	chr3:42413600-42414600	Enhancers	Fetal Muscle Leg	muscle
26	chr3:42413600-42417200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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