Variant report

Variant	rs12493532
Chromosome Location	chr3:144899580-144899581
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12494539	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12497899	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1445362	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35410306	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35901113	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4610179	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57660447	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62273411	0.83[EUR][1000 genomes]
rs62273412	0.83[EUR][1000 genomes]
rs62273413	0.83[EUR][1000 genomes]
rs62273420	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7431950	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7632047	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005754	chr3:144529346-144984363	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1004792	chr3:144658885-145191801	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv877579	chr3:144815506-144933621	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv877580	chr3:144815506-144979382	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv877581	chr3:144815506-145181910	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv998288	chr3:144815560-145147528	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv591931	chr3:144850047-144928287	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv877582	chr3:144871811-144916414	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1848157	chr3:144880588-144903957	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv1848561	chr3:144880588-144903957	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv877583	chr3:144880588-145066106	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1014348	chr3:144880711-144954785	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv536756	chr3:144880711-144954785	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144898400-144900400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:144898600-144899600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:144898600-144900200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:144898600-144900400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:144898600-144900400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:144898600-144900600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:144898800-144899600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr3:144898800-144900400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:144899000-144900200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:144899000-144900200	Active TSS	Stomach Smooth Muscle	stomach
11	chr3:144899000-144900600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:144899200-144900600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:144899400-144899600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:144899400-144899600	Active TSS	Liver	Liver
15	chr3:144899400-144899600	Flanking Active TSS	Colon Smooth Muscle	Colon
16	chr3:144899400-144899600	Enhancers	NHDF-Ad	bronchial
17	chr3:144899400-144899800	Enhancers	Primary T cells from cord blood	blood
18	chr3:144899400-144899800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:144899400-144899800	Weak transcription	Fetal Brain Female	brain
20	chr3:144899400-144900200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr3:144899400-144900200	Enhancers	Aorta	Aorta
22	chr3:144899400-144900200	Enhancers	Dnd41	blood
23	chr3:144899400-144900400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:144899400-144900600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:144899400-144900600	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr3:144899400-144900800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:144899400-144900800	Active TSS	Adipose Nuclei	Adipose
28	chr3:144899400-144905600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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