Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1005605	1.00[ASN][1000 genomes]
rs10132111	0.85[ASN][1000 genomes]
rs10133626	1.00[JPT][hapmap]
rs10137642	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10139519	1.00[JPT][hapmap]
rs1204988	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1204992	0.94[ASN][1000 genomes]
rs1204995	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1204996	0.92[CEU][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1204997	0.91[ASN][1000 genomes]
rs1981588	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs2286135	0.82[ASN][1000 genomes]
rs2286136	0.92[CEU][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3784064	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs3825719	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs4140799	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4899398	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs7140501	1.00[JPT][hapmap]
rs7142343	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs7156313	1.00[JPT][hapmap]
rs7350725	1.00[CEU][hapmap];0.81[CHD][hapmap];0.89[MEX][hapmap];0.93[AMR][1000 genomes]
rs757744	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8015004	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1047559	chr14:72151736-72282151	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1468373	PCNX	cis	cerebellum	SCAN
rs1468373	PCNX	cis	parietal	SCAN
rs1468373	ACOT2	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72190600-72214200	Weak transcription	K562	blood
2	chr14:72194600-72214800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:72203800-72213400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:72205200-72214200	Weak transcription	Adipose Nuclei	Adipose
5	chr14:72206000-72210800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:72206000-72214800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:72206000-72219600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:72206200-72214200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:72206400-72211000	Weak transcription	Fetal Intestine Small	intestine
10	chr14:72206400-72214200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:72206600-72214200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:72207200-72221400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:72208800-72211000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:72210400-72210800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr14:72210600-72211000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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