Variant report

Variant	rs33477
Chromosome Location	chr3:42411255-42411256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs33451	0.94[EUR][1000 genomes]
rs33453	0.94[EUR][1000 genomes]
rs33454	0.94[EUR][1000 genomes]
rs33455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs33456	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs33457	0.94[EUR][1000 genomes]
rs33459	0.94[EUR][1000 genomes]
rs33460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs33461	0.94[EUR][1000 genomes]
rs33462	0.94[EUR][1000 genomes]
rs33463	0.94[EUR][1000 genomes]
rs33466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33474	0.94[EUR][1000 genomes]
rs33475	0.89[EUR][1000 genomes]
rs33476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33478	0.94[EUR][1000 genomes]
rs33479	0.94[EUR][1000 genomes]
rs33480	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39647	0.94[EUR][1000 genomes]
rs39648	0.94[EUR][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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42408600-42411600	Enhancers	Fetal Muscle Leg	muscle
2	chr3:42409200-42411400	Enhancers	Rectal Smooth Muscle	rectum
3	chr3:42409400-42411400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr3:42409400-42411600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:42409600-42411400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:42409600-42411800	Enhancers	Fetal Brain Male	brain
7	chr3:42409600-42412000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:42409800-42411400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:42409800-42411800	Enhancers	Fetal Brain Female	brain
10	chr3:42410200-42411400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:42410200-42411400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:42410200-42411400	Enhancers	Brain Anterior Caudate	brain
13	chr3:42410200-42411400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr3:42410400-42411400	Enhancers	Primary B cells from peripheral blood	blood
15	chr3:42410400-42411400	Enhancers	Primary T cells from cord blood	blood
16	chr3:42410400-42411400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr3:42410400-42411400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:42410400-42411400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr3:42410600-42411400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:42410600-42411400	Enhancers	Primary B cells from cord blood	blood
21	chr3:42410600-42411400	Enhancers	Primary hematopoietic stem cells	blood
22	chr3:42410600-42411400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:42410600-42411400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:42410600-42411600	Enhancers	Brain Germinal Matrix	brain
25	chr3:42410800-42411400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:42410800-42411400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:42410800-42411400	Enhancers	Right Ventricle	heart
28	chr3:42410800-42414600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:42411000-42411400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr3:42411000-42411400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr3:42411000-42411400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:42411000-42411400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:42411000-42411400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr3:42411000-42411400	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr3:42411000-42411400	Enhancers	Brain Cingulate Gyrus	brain
36	chr3:42411000-42411400	Enhancers	Brain Hippocampus Middle	brain
37	chr3:42411000-42411400	Enhancers	Fetal Intestine Large	intestine
38	chr3:42411000-42411400	Enhancers	Fetal Muscle Trunk	muscle
39	chr3:42411000-42411400	Enhancers	Fetal Stomach	stomach
40	chr3:42411000-42411400	Enhancers	Left Ventricle	heart
41	chr3:42411000-42411400	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr3:42411200-42411400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:42411200-42411400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr3:42411200-42411600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr3:42411200-42411600	Flanking Active TSS	Colon Smooth Muscle	Colon

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