Variant report

Variant	rs33474
Chromosome Location	chr3:42410768-42410769
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]
rs33450	0.80[ASN][1000 genomes]
rs33451	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs33453	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33454	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33455	0.94[EUR][1000 genomes]
rs33456	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs33457	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33459	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33460	0.94[EUR][1000 genomes]
rs33461	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33462	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33463	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33464	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs33466	0.94[EUR][1000 genomes]
rs33467	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33468	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33469	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33470	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33471	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33472	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33473	0.94[EUR][1000 genomes]
rs33475	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs33476	0.94[EUR][1000 genomes]
rs33477	0.94[EUR][1000 genomes]
rs33478	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs33479	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs33480	0.94[EUR][1000 genomes]
rs33533	0.81[ASN][1000 genomes]
rs39647	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs39648	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42407200-42411000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:42408200-42411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:42408400-42410800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:42408600-42411600	Enhancers	Fetal Muscle Leg	muscle
5	chr3:42408800-42411200	Enhancers	Colon Smooth Muscle	Colon
6	chr3:42409200-42411000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:42409200-42411400	Enhancers	Rectal Smooth Muscle	rectum
8	chr3:42409400-42411000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:42409400-42411000	Enhancers	Brain Angular Gyrus	brain
10	chr3:42409400-42411000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:42409400-42411400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr3:42409400-42411600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:42409600-42411000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:42409600-42411200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:42409600-42411400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:42409600-42411800	Enhancers	Fetal Brain Male	brain
17	chr3:42409600-42412000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:42409800-42410800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:42409800-42411000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:42409800-42411000	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:42409800-42411400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:42409800-42411800	Enhancers	Fetal Brain Female	brain
23	chr3:42410200-42411000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:42410200-42411400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:42410200-42411400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:42410200-42411400	Enhancers	Brain Anterior Caudate	brain
27	chr3:42410200-42411400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr3:42410400-42411200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr3:42410400-42411400	Enhancers	Primary B cells from peripheral blood	blood
30	chr3:42410400-42411400	Enhancers	Primary T cells from cord blood	blood
31	chr3:42410400-42411400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr3:42410400-42411400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:42410400-42411400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr3:42410600-42411000	Enhancers	Stomach Smooth Muscle	stomach
35	chr3:42410600-42411200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr3:42410600-42411200	Enhancers	Adipose Nuclei	Adipose
37	chr3:42410600-42411400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:42410600-42411400	Enhancers	Primary B cells from cord blood	blood
39	chr3:42410600-42411400	Enhancers	Primary hematopoietic stem cells	blood
40	chr3:42410600-42411400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:42410600-42411400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:42410600-42411600	Enhancers	Brain Germinal Matrix	brain

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