Variant report

Variant	rs17111237
Chromosome Location	chr14:81406341-81406342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr14:81406297-81406629	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81406001..81408090-chr14:81684696..81687286,2	MCF-7	breast:
2	chr14:81405070..81407655-chr14:81893214..81894963,2	K562	blood:

Variant related genes	Relation type
CEP128	TF binding region
ENSG00000165417	Chromatin interaction
ENSG00000140022	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10133034	0.86[CHB][hapmap]
rs10135084	0.87[CHB][hapmap]
rs10141970	0.81[JPT][hapmap]
rs10142753	0.81[JPT][hapmap]
rs1016699	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs1038523	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs11625199	0.81[JPT][hapmap]
rs11627934	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs1197467	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs1197474	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs12050151	0.86[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12050342	0.81[JPT][hapmap]
rs12050416	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs12433134	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs12434318	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs12437260	0.81[JPT][hapmap]
rs12896436	0.85[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs162171	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs162174	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs170595	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs170596	0.81[JPT][hapmap]
rs17111153	0.81[CHD][hapmap];0.92[JPT][hapmap];0.82[TSI][hapmap];0.82[ASN][1000 genomes]
rs17111246	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111256	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615020	0.81[JPT][hapmap]
rs1863766	0.81[JPT][hapmap]
rs2010847	0.81[JPT][hapmap]
rs2059719	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2114702	0.86[ASN][1000 genomes]
rs2162547	0.85[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2268458	0.81[JPT][hapmap]
rs2268460	0.81[JPT][hapmap]
rs228119	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs228122	0.80[JPT][hapmap]
rs2284720	0.81[JPT][hapmap]
rs2288347	0.81[JPT][hapmap]
rs2556607	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs2556611	0.81[JPT][hapmap]
rs2619661	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs28850656	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs2888032	0.81[JPT][hapmap]
rs327423	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs327424	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs327428	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs327429	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs327434	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs327435	0.81[CHB][hapmap]
rs327440	0.80[CHB][hapmap]
rs327442	0.81[CHB][hapmap]
rs327446	0.81[CHB][hapmap]
rs327452	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs327454	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs327462	0.81[CHB][hapmap]
rs327463	0.81[CHB][hapmap]
rs327467	0.81[CHB][hapmap]
rs327470	0.81[CHB][hapmap]
rs327472	0.81[CHB][hapmap]
rs328206	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs328212	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs328213	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs328258	0.81[CHB][hapmap]
rs4899780	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs4899781	0.80[ASN][1000 genomes]
rs4903949	0.81[JPT][hapmap]
rs57104434	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6574608	0.81[JPT][hapmap]
rs6574609	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs6574610	0.81[JPT][hapmap]
rs6574611	0.80[ASN][1000 genomes]
rs7140452	0.86[JPT][hapmap]
rs7157845	0.81[JPT][hapmap]
rs7158936	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs722906	0.81[JPT][hapmap]
rs72693028	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72693029	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72693043	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72693050	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759919	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs768359	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs8008366	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs8011273	0.81[CHB][hapmap]
rs8016507	0.81[JPT][hapmap]
rs9323694	0.86[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17111237	VIPAR	cis	parietal	SCAN
rs17111237	SCN11A	trans	parietal	SCAN
rs17111237	C14orf145	cis	cerebellum	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:81375400-81407600	Weak transcription	Gastric	stomach
3	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:81382600-81406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:81387800-81407200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:81390000-81407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:81392200-81407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:81392400-81406600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:81392600-81407200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:81392600-81407200	Weak transcription	Fetal Stomach	stomach
11	chr14:81392800-81407400	Weak transcription	Esophagus	oesophagus
12	chr14:81393000-81407600	Weak transcription	Lung	lung
13	chr14:81393600-81407200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:81394000-81407400	Weak transcription	Left Ventricle	heart
15	chr14:81395000-81407400	Weak transcription	Fetal Intestine Large	intestine
16	chr14:81396400-81407600	Weak transcription	Aorta	Aorta
17	chr14:81397400-81407200	Weak transcription	Ovary	ovary
18	chr14:81398000-81407200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:81398000-81407200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:81398000-81407200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:81398200-81406600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:81398200-81407000	Weak transcription	Primary T cells from cord blood	blood
23	chr14:81398200-81407200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr14:81398200-81407400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:81398400-81406800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:81398600-81406400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr14:81398800-81406600	Weak transcription	HMEC	breast
28	chr14:81398800-81407200	Weak transcription	Primary B cells from cord blood	blood
29	chr14:81399000-81406400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:81399000-81406400	Weak transcription	GM12878-XiMat	blood
31	chr14:81400000-81406400	Weak transcription	K562	blood
32	chr14:81400600-81407200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr14:81400800-81406600	Weak transcription	Fetal Heart	heart
34	chr14:81400800-81407200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:81401000-81407200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr14:81401000-81407400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:81401200-81406400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:81401200-81406600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:81401200-81407200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:81402400-81407200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:81402600-81407000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:81402800-81407200	Weak transcription	Liver	Liver
43	chr14:81402800-81407200	Weak transcription	Thymus	Thymus
44	chr14:81403000-81406600	Weak transcription	Brain Germinal Matrix	brain
45	chr14:81403200-81407000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:81404000-81407200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:81405200-81406600	Strong transcription	HSMM	muscle
48	chr14:81405400-81407200	Weak transcription	Osteobl	bone
49	chr14:81405600-81406600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:81405600-81406600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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