Variant report

Variant	rs4981158
Chromosome Location	chr14:20827797-20827798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:20826312..20827844-chr14:20874505..20876192,2	MCF-7	breast:
2	chr14:20822283..20824814-chr14:20826047..20828867,2	K562	blood:
3	chr14:20810639..20812181-chr14:20826213..20828452,2	K562	blood:

Variant related genes	Relation type
ENSG00000259001	Chromatin interaction
ENSG00000129484	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10129957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10130660	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148359	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12323412	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12323610	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12891805	0.88[EUR][1000 genomes]
rs1889363	0.84[MEX][hapmap]
rs2297616	0.90[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700	0.93[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3093882	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3093890	0.90[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3093897	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3093902	0.88[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3093904	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3093907	0.82[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap]
rs3093933	0.85[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3093939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs3093942	0.81[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34848586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4415933	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4981150	0.81[CEU][hapmap]
rs4981983	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4981998	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57101853	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58530849	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59821173	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6575135	0.81[CEU][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap]
rs7155699	0.83[MEX][hapmap]
rs7159947	0.85[MEX][hapmap]
rs7161611	0.94[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8009242	0.94[MEX][hapmap];0.87[TSI][hapmap]
rs8014147	0.84[EUR][1000 genomes]
rs8022565	0.81[CEU][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap]
rs878157	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs884368	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs9323870	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
7	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4981158	RPPH1	cis	multi-tissue	Pritchard
rs4981158	PARP2	cis	cerebellum	SCAN
rs4981158	ZNF219	cis	cerebellum	SCAN
rs4981158	TTC5	cis	cerebellum	SCAN
rs4981158	PARP2	cis	multi-tissue	Pritchard
rs4981158	PARP2	cis	parietal	SCAN
rs4981158	PRMT5	cis	parietal	SCAN
rs4981158	JUB	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20812400-20880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:20812600-20831800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:20812600-20834600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:20812600-20841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:20812600-20845600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:20813000-20827800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:20813000-20827800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr14:20813000-20830800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:20813200-20827800	Strong transcription	Fetal Intestine Large	intestine
10	chr14:20813200-20827800	Strong transcription	Placenta	Placenta
11	chr14:20813200-20828000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:20813200-20828400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:20813200-20829400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:20813200-20831600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:20813200-20869200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:20813400-20827800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:20813400-20827800	Strong transcription	Liver	Liver
18	chr14:20813400-20828600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:20813400-20829000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:20813600-20827800	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr14:20813600-20827800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:20813600-20827800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:20813600-20827800	Strong transcription	HSMM	muscle
24	chr14:20815200-20827800	Strong transcription	Osteobl	bone
25	chr14:20815600-20827800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr14:20815800-20828000	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr14:20817000-20828200	Strong transcription	Brain Germinal Matrix	brain
28	chr14:20817800-20827800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:20817800-20827800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:20817800-20827800	Strong transcription	NH-A	brain
31	chr14:20817800-20828000	Strong transcription	HepG2	liver
32	chr14:20820400-20828400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:20822000-20827800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:20822200-20827800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:20823200-20834600	Weak transcription	Small Intestine	intestine
36	chr14:20824600-20840800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr14:20824800-20829000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:20824800-20836000	Weak transcription	Psoas Muscle	Psoas
39	chr14:20824800-20836200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:20824800-20839200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:20825000-20827800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:20825000-20828000	Weak transcription	Fetal Intestine Small	intestine
43	chr14:20825000-20831400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:20825000-20836600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr14:20825000-20836800	Weak transcription	Stomach Mucosa	stomach
46	chr14:20825200-20834600	Weak transcription	Aorta	Aorta
47	chr14:20825200-20863200	Weak transcription	Fetal Heart	heart
48	chr14:20825400-20834200	Weak transcription	Colonic Mucosa	Colon
49	chr14:20825400-20834800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr14:20825800-20828000	Weak transcription	Fetal Stomach	stomach

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