Variant report

Variant	rs1255965
Chromosome Location	chr14:64537295-64537296
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10132638	0.81[EUR][1000 genomes]
rs10138253	0.81[EUR][1000 genomes]
rs10140978	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10146667	0.99[ASN][1000 genomes]
rs10151127	0.91[CEU][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11622858	0.83[ASN][1000 genomes]
rs11844088	0.80[EUR][1000 genomes]
rs11844628	0.80[EUR][1000 genomes]
rs1255950	0.81[CHB][hapmap]
rs1255952	0.81[CHB][hapmap]
rs1255953	0.90[TSI][hapmap]
rs1255954	0.92[CEU][hapmap];0.96[TSI][hapmap];0.81[EUR][1000 genomes]
rs1255955	0.81[CHB][hapmap]
rs1255957	0.80[EUR][1000 genomes]
rs1255959	0.92[CEU][hapmap];0.82[CHB][hapmap];0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1255960	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.84[ASN][1000 genomes]
rs1255961	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.84[ASN][1000 genomes]
rs1255962	0.88[AFR][1000 genomes]
rs1255963	0.81[EUR][1000 genomes]
rs1255964	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs1255966	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs1255967	0.82[ASW][hapmap];0.92[CEU][hapmap];0.91[GIH][hapmap];0.91[LWK][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1255968	1.00[CHB][hapmap];0.96[CHD][hapmap];0.84[ASN][1000 genomes]
rs1255969	0.81[EUR][1000 genomes]
rs1255971	0.81[EUR][1000 genomes]
rs1255972	0.81[EUR][1000 genomes]
rs1255973	0.84[ASN][1000 genomes]
rs1255975	0.81[EUR][1000 genomes]
rs12586503	0.80[EUR][1000 genomes]
rs1262240	0.92[CEU][hapmap];0.88[GIH][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs1262241	1.00[ASN][1000 genomes]
rs1266925	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1890907	0.99[ASN][1000 genomes]
rs1890908	1.00[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];0.84[ASN][1000 genomes]
rs1954051	0.81[EUR][1000 genomes]
rs2153477	0.99[ASN][1000 genomes]
rs2153478	0.99[ASN][1000 genomes]
rs2153481	0.80[EUR][1000 genomes]
rs2185453	0.81[EUR][1000 genomes]
rs2781378	0.84[ASN][1000 genomes]
rs28572628	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3829767	0.92[CEU][hapmap];0.91[GIH][hapmap];0.96[TSI][hapmap];0.81[EUR][1000 genomes]
rs3866737	0.80[EUR][1000 genomes]
rs4027402	0.83[CEU][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs4027404	0.83[CEU][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs4027405	0.91[CEU][hapmap];0.87[CHD][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs4275767	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4462521	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4899131	0.80[EUR][1000 genomes]
rs4902264	0.83[CEU][hapmap];0.85[TSI][hapmap]
rs6573542	0.80[EUR][1000 genomes]
rs6573544	1.00[ASN][1000 genomes]
rs7144722	0.80[EUR][1000 genomes]
rs7146859	0.83[ASN][1000 genomes]
rs7147157	0.80[EUR][1000 genomes]
rs7150982	0.83[ASN][1000 genomes]
rs7153376	1.00[ASN][1000 genomes]
rs7157594	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7157993	0.84[ASN][1000 genomes]
rs7158401	0.92[CEU][hapmap]
rs8010699	0.92[CEU][hapmap];0.91[GIH][hapmap];0.96[TSI][hapmap];0.81[EUR][1000 genomes]
rs8010911	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs963289	0.92[CEU][hapmap];0.81[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	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1255965	PPP2R5E	cis	cerebellum	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:64481400-64574000	Weak transcription	Stomach Mucosa	stomach
3	chr14:64489400-64568600	Weak transcription	Small Intestine	intestine
4	chr14:64491200-64565200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:64492200-64547400	Weak transcription	Colonic Mucosa	Colon
6	chr14:64499000-64538800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:64516600-64541400	Weak transcription	HSMM	muscle
8	chr14:64519000-64541000	Weak transcription	HUVEC	blood vessel
9	chr14:64519400-64592000	Weak transcription	Fetal Brain Male	brain
10	chr14:64519600-64539000	Weak transcription	Right Ventricle	heart
11	chr14:64519600-64545200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr14:64520400-64537400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:64520400-64539000	Weak transcription	Liver	Liver
14	chr14:64521000-64540800	Weak transcription	Psoas Muscle	Psoas
15	chr14:64525400-64566600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:64526000-64552200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:64526800-64539000	Weak transcription	Fetal Thymus	thymus
18	chr14:64526800-64540400	Weak transcription	Fetal Kidney	kidney
19	chr14:64526800-64577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:64527000-64539600	Weak transcription	Ovary	ovary
21	chr14:64527000-64540200	Weak transcription	Primary B cells from cord blood	blood
22	chr14:64527000-64540800	Weak transcription	Spleen	Spleen
23	chr14:64527000-64547200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:64527200-64539000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:64527400-64538400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:64527600-64539000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:64527600-64551800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:64527800-64540400	Weak transcription	Hela-S3	cervix
29	chr14:64527800-64540800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:64527800-64540800	Weak transcription	Esophagus	oesophagus
31	chr14:64527800-64540800	Weak transcription	Gastric	stomach
32	chr14:64527800-64549000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:64527800-64552000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:64527800-64556600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:64528000-64540800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:64528000-64541400	Weak transcription	A549	lung
37	chr14:64528000-64541600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:64528000-64557000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr14:64528000-64567400	Weak transcription	Fetal Heart	heart
40	chr14:64528200-64539000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:64528400-64539400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:64528400-64547000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr14:64528600-64537400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:64528600-64541800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr14:64529000-64553200	Strong transcription	Dnd41	blood
46	chr14:64529200-64539400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:64529400-64538400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr14:64529400-64543000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr14:64529400-64566800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:64529800-64538800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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