Variant report

Variant	rs11850273
Chromosome Location	chr14:31927931-31927932
allele	C/T
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	CEBPB	chr14:31927299-31927966	HepG2	liver:	n/a	chr14:31927770-31927781
2	FOXA1	chr14:31927229-31928016	HepG2	liver:	n/a	n/a
3	FOXA1	chr14:31925892-31928010	HepG2	liver:	n/a	chr14:31927001-31927013
4	TEAD4	chr14:31927495-31927942	HepG2	liver:	n/a	n/a
5	KAP1	chr14:31927470-31928079	U2OS	brain:	n/a	n/a
6	GATA3	chr14:31927311-31927945	T-47D	breast:	n/a	chr14:31927933-31927943
7	FOXA1	chr14:31926387-31928034	HepG2	liver:	n/a	chr14:31927001-31927013
8	MYBL2	chr14:31925551-31928151	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:31927391-31927954	H1-neurons	neurons:	n/a	n/a
10	CEBPB	chr14:31927395-31928100	MCF-7	breast:	n/a	chr14:31927770-31927781
11	CEBPB	chr14:31927555-31927968	MCF-7	breast:	n/a	chr14:31927770-31927781
12	GATA3	chr14:31927243-31928147	MCF-7	breast:	n/a	chr14:31927933-31927943
13	TEAD4	chr14:31925590-31928065	HepG2	liver:	n/a	n/a
14	MBD4	chr14:31925870-31928127	HepG2	liver:	n/a	n/a
15	ARID3A	chr14:31925760-31927934	HepG2	liver:	n/a	n/a
16	FOXA1	chr14:31927246-31927982	T-47D	breast:	n/a	n/a
17	FOXA1	chr14:31927301-31927988	HepG2	liver:	n/a	n/a
18	GATA3	chr14:31927411-31927959	MCF-7	breast:	n/a	chr14:31927933-31927943
19	GATA3	chr14:31927211-31927955	T-47D	breast:	n/a	chr14:31927933-31927943
20	BHLHE40	chr14:31927411-31928024	HepG2	liver:	n/a	n/a
21	EP300	chr14:31927278-31928001	HepG2	liver:	n/a	n/a
22	FOXA2	chr14:31926831-31928327	HepG2	liver:	n/a	chr14:31927001-31927013
23	JUND	chr14:31927343-31928056	T-47D	breast:	n/a	chr14:31927535-31927544
24	FOXA2	chr14:31927191-31927967	HepG2	liver:	n/a	n/a
25	RAD21	chr14:31927534-31927942	HepG2	liver:	n/a	n/a
26	NFIC	chr14:31925745-31928018	HepG2	liver:	n/a	n/a
27	CEBPB	chr14:31927333-31927968	HepG2	liver:	n/a	chr14:31927770-31927781

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31887046..31892106-chr14:31923824..31928892,9	K562	blood:

Variant related genes	Relation type
DTD2	TF binding region
ENSG00000203546	TF binding region
ENSG00000129493	Chromatin interaction
ENSG00000250365	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10134812	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10138925	0.86[EUR][1000 genomes]
rs10147284	0.93[EUR][1000 genomes]
rs10150938	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10151479	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11156667	0.88[CEU][hapmap];0.80[TSI][hapmap]
rs11156673	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11620714	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11845550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11845830	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11846073	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11847017	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11847614	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11850265	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11851140	1.00[CEU][hapmap];0.85[GIH][hapmap];0.95[TSI][hapmap];0.99[EUR][1000 genomes]
rs12436396	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12590885	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12881016	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12881925	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12891556	0.94[EUR][1000 genomes]
rs12891787	0.97[EUR][1000 genomes]
rs12892435	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12893465	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs13176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1888576	0.85[CEU][hapmap];0.80[MEX][hapmap];0.82[EUR][1000 genomes]
rs1958027	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2094906	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2182254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2274291	1.00[CEU][hapmap];0.85[GIH][hapmap];0.91[TSI][hapmap];0.96[EUR][1000 genomes]
rs34182758	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34278949	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34704647	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35483550	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4981100	0.96[EUR][1000 genomes]
rs4981101	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4981849	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981850	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4981851	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5016597	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61180027	0.87[ASN][1000 genomes]
rs6571423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6571426	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7149165	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7149522	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153450	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7154915	0.96[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7157390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7159566	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8006990	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8007488	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8007946	0.94[EUR][1000 genomes]
rs8008016	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8010209	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8011206	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8012658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv456198	chr14:31919728-31972289	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv564179	chr14:31919728-31972289	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11850273	RNMTL1	trans	cerebellum	SCAN
rs11850273	C14orf126	Cis_1M	lymphoblastoid	RTeQTL
rs11850273	EGLN3	cis	cerebellum	SCAN
rs11850273	RP11-176H8.1	cis	Muscle Skeletal	GTEx
rs11850273	HEATR5A	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31926800-31931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31927000-31928000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr14:31927000-31928000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:31927000-31928000	Enhancers	HSMMtube	muscle
5	chr14:31927000-31928200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr14:31927200-31928000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:31927200-31928200	Enhancers	Fetal Intestine Small	intestine
8	chr14:31927200-31931000	Weak transcription	HMEC	breast
9	chr14:31927200-31939000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:31927400-31928000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr14:31927400-31928000	Enhancers	Dnd41	blood
12	chr14:31927400-31928000	Enhancers	GM12878-XiMat	blood
13	chr14:31927400-31928200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:31927400-31928200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr14:31927400-31931000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:31927400-31931000	Weak transcription	Primary B cells from cord blood	blood
17	chr14:31927400-31931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:31927600-31928000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:31927600-31928000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr14:31927600-31928000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr14:31927600-31928000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:31927600-31928000	Enhancers	Adipose Nuclei	Adipose
23	chr14:31927600-31928000	Flanking Active TSS	HepG2	liver
24	chr14:31927600-31928200	Enhancers	Brain Angular Gyrus	brain
25	chr14:31927600-31928200	Enhancers	Brain Anterior Caudate	brain
26	chr14:31927600-31928200	Enhancers	Brain Cingulate Gyrus	brain
27	chr14:31927600-31928200	Enhancers	Brain Hippocampus Middle	brain
28	chr14:31927600-31928200	Enhancers	Brain Substantia Nigra	brain
29	chr14:31927600-31928200	Enhancers	Fetal Intestine Large	intestine
30	chr14:31927600-31928400	Enhancers	Fetal Heart	heart
31	chr14:31927600-31930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:31927600-31931000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:31927800-31928000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:31927800-31928200	Enhancers	Liver	Liver
35	chr14:31927800-31928200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr14:31927800-31928200	Enhancers	A549	lung
37	chr14:31927800-31928600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:31927800-31928600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:31927800-31928600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:31927800-31928600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr14:31927800-31928800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:31927800-31930800	Weak transcription	NHEK	skin
43	chr14:31927800-31931000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:31927800-31931000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:31927800-31934200	Weak transcription	Osteobl	bone
46	chr14:31927800-31939400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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