Variant report

Variant	rs11150614
Chromosome Location	chr16:31366016-31366017
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	NFIC	chr16:31365717-31366653	GM12878	blood:	n/a	chr16:31366221-31366237
2	FOXM1	chr16:31365886-31366466	GM12878	blood:	n/a	n/a
3	EBF1	chr16:31365728-31366431	GM12878	blood:	n/a	n/a
4	RCOR1	chr16:31365869-31366568	GM12878	blood:	n/a	n/a
5	ZNF143	chr16:31365947-31366141	GM12878	blood:	n/a	n/a
6	CEBPB	chr16:31365601-31366255	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:31365609-31366130	GM12878	blood:	n/a	n/a
8	YY1	chr16:31365641-31366305	GM12878	blood:	n/a	n/a
9	POLR2A	chr16:31365616-31366714	GM12878	blood:	n/a	n/a
10	NFATC1	chr16:31365691-31366144	GM12878	blood:	n/a	n/a
11	PAX5	chr16:31365780-31366067	GM12878	blood:	n/a	n/a
12	EP300	chr16:31365796-31366523	GM12878	blood:	n/a	n/a
13	TCF12	chr16:31365819-31366070	GM12878	blood:	n/a	n/a
14	TBP	chr16:31365672-31366160	GM12878	blood:	n/a	n/a
15	POU2F2	chr16:31365638-31366625	GM12878	blood:	n/a	chr16:31366383-31366395 chr16:31366321-31366328 chr16:31366318-31366332
16	POLR2A	chr16:31365613-31366715	GM19193	blood:	n/a	n/a
17	FOXM1	chr16:31365646-31366560	GM12878	blood:	n/a	n/a
18	EP300	chr16:31365662-31366639	GM12878	blood:	n/a	n/a
19	ELF1	chr16:31365638-31366792	GM12878	blood:	n/a	chr16:31366523-31366536
20	BCL11A	chr16:31365702-31366108	GM12878	blood:	n/a	n/a
21	POU2F2	chr16:31365619-31366173	GM12891	blood:	n/a	n/a
22	RUNX3	chr16:31365590-31366665	GM12878	blood:	n/a	chr16:31366004-31366013 chr16:31365998-31366013 chr16:31366004-31366013
23	MAZ	chr16:31365795-31366608	GM12878	blood:	n/a	chr16:31366438-31366448 chr16:31366448-31366457
24	POLR2A	chr16:31365584-31366825	GM12892	blood:	n/a	n/a
25	TBL1XR1	chr16:31365688-31366582	GM12878	blood:	n/a	n/a
26	STAT5A	chr16:31365557-31366820	GM12878	blood:	n/a	chr16:31366303-31366315 chr16:31366308-31366320 chr16:31366467-31366479 chr16:31366433-31366445
27	RELA	chr16:31365732-31366569	GM19193	blood:	n/a	n/a
28	PAX5	chr16:31365642-31366695	GM12878	blood:	n/a	n/a
29	RUNX3	chr16:31365632-31366698	GM12878	blood:	n/a	chr16:31366004-31366013 chr16:31365998-31366013 chr16:31366004-31366013
30	EBF1	chr16:31365713-31366096	GM12878	blood:	n/a	n/a
31	ATF2	chr16:31365790-31366176	GM12878	blood:	n/a	n/a
32	POLR2A	chr16:31365625-31366025	GM12891	blood:	n/a	n/a
33	POLR2A	chr16:31365600-31366740	GM18505	blood:	n/a	n/a
34	USF2	chr16:31365727-31366518	GM12878	blood:	n/a	n/a
35	MTA3	chr16:31365623-31366310	GM12878	blood:	n/a	n/a
36	SP1	chr16:31365767-31366151	GM12878	blood:	n/a	n/a
37	PAX5	chr16:31365836-31366038	GM12878	blood:	n/a	n/a
38	MAX	chr16:31365753-31366553	GM12878	blood:	n/a	chr16:31366438-31366448 chr16:31366448-31366457
39	BCLAF1	chr16:31365629-31366459	GM12878	blood:	n/a	n/a
40	POLR2A	chr16:31365531-31366084	GM12878	blood:	n/a	n/a
41	WRNIP1	chr16:31365657-31366134	GM12878	blood:	n/a	n/a
42	MTA3	chr16:31365488-31366743	GM12878	blood:	n/a	n/a
43	POLR2A	chr16:31365524-31366051	GM12892	blood:	n/a	n/a
44	ELF1	chr16:31365623-31366108	GM12878	blood:	n/a	n/a
45	STAT3	chr16:31365825-31366035	MCF10A-Er-Src	breast:	n/a	chr16:31365881-31365892 chr16:31365869-31365880
46	ATF2	chr16:31365534-31366644	GM12878	blood:	n/a	n/a
47	MXI1	chr16:31365654-31366613	GM12878	blood:	n/a	n/a
48	NFIC	chr16:31365589-31366674	GM12878	blood:	n/a	chr16:31366221-31366237
49	RELA	chr16:31365687-31366547	GM18951	blood:	n/a	n/a
50	PML	chr16:31365545-31366766	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31190068..31192732-chr16:31364834..31366748,2	MCF-7	breast:
2	chr16:31364585..31367756-chr16:31369594..31371710,3	K562	blood:
3	chr16:31191175..31193131-chr16:31364382..31367193,2	K562	blood:

Variant related genes	Relation type
ITGAX	TF binding region
ENSG00000089280	Chromatin interaction
ENSG00000140678	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10747210	0.85[ASN][1000 genomes]
rs10782004	0.85[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs1106398	0.86[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11150610	0.86[CHB][hapmap]
rs11150611	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11150612	0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs11150613	0.90[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11150616	0.95[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11150617	0.91[ASN][1000 genomes]
rs11150619	0.89[JPT][hapmap]
rs1143682	0.86[CHB][hapmap]
rs11574630	0.86[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs11574631	1.00[CEU][hapmap];0.93[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11574639	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11641624	0.89[GIH][hapmap];0.80[TSI][hapmap]
rs11642120	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11645526	0.91[GIH][hapmap]
rs11645917	0.88[ASN][1000 genomes]
rs11859274	0.88[ASN][1000 genomes]
rs11863627	0.91[EUR][1000 genomes]
rs12600286	0.81[ASN][1000 genomes]
rs12923297	0.86[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs12930249	0.83[AMR][1000 genomes]
rs12935192	0.88[ASN][1000 genomes]
rs13332545	0.86[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2230429	0.82[ASN][1000 genomes]
rs2359661	0.85[CHB][hapmap]
rs3087796	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3764327	0.91[GIH][hapmap]
rs3925074	0.83[ASN][1000 genomes]
rs3925075	0.83[ASN][1000 genomes]
rs4075052	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4077810	0.95[CEU][hapmap];0.93[CHB][hapmap];0.95[GIH][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4261553	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4359460	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4411512	0.82[ASN][1000 genomes]
rs4448960	0.83[ASN][1000 genomes]
rs4459557	0.95[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4493054	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4506917	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs4594268	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4597342	0.95[CEU][hapmap];0.93[CHB][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4608351	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4889640	0.82[GIH][hapmap]
rs4889649	0.86[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs55912556	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56392848	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59338016	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61194152	0.83[ASN][1000 genomes]
rs7190997	0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.96[ASN][1000 genomes]
rs7192375	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7193943	0.91[GIH][hapmap]
rs7203472	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7206295	0.95[CEU][hapmap];0.93[CHB][hapmap];0.98[GIH][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7499192	0.85[CHB][hapmap];0.89[GIH][hapmap];0.82[TSI][hapmap]
rs8048583	0.85[CHB][hapmap];0.89[GIH][hapmap];0.82[TSI][hapmap]
rs8052324	0.91[EUR][1000 genomes]
rs8057320	0.91[GIH][hapmap]
rs8060268	0.95[CEU][hapmap];0.93[CHB][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9673398	0.82[ASN][1000 genomes]
rs9673404	0.81[ASN][1000 genomes]
rs9673405	0.83[ASN][1000 genomes]
rs9673519	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9673522	0.83[ASN][1000 genomes]
rs9674009	0.83[ASN][1000 genomes]
rs9888907	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][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	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
4	nsv1058992	chr16:31337455-31414881	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv542902	chr16:31337455-31414881	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1061980	chr16:31338462-31415471	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11150614	MYST1	cis	parietal	SCAN
rs11150614	FUS	cis	cerebellum	SCAN
rs11150614	PYDC1	cis	Skin Sun Exposed Lower leg	GTEx
rs11150614	MYST1	cis	cerebellum	SCAN
rs11150614	VKORC1	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31343000-31400800	Weak transcription	Right Atrium	heart
2	chr16:31358600-31366400	Enhancers	Primary B cells from peripheral blood	blood
3	chr16:31361200-31368000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr16:31363800-31368200	Weak transcription	Fetal Muscle Leg	muscle
5	chr16:31364200-31366800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr16:31364200-31367400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr16:31364400-31370200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr16:31364800-31366200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr16:31365200-31366800	Enhancers	Fetal Thymus	thymus
10	chr16:31365600-31366400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr16:31365600-31366600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr16:31365600-31366600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr16:31365600-31366600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:31365600-31366800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr16:31365600-31366800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr16:31365600-31366800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr16:31365600-31367000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:31365600-31367000	Flanking Active TSS	GM12878-XiMat	blood
19	chr16:31365600-31367200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr16:31365600-31367200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr16:31365600-31368000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr16:31365600-31368600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr16:31365600-31369200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:31365600-31369800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr16:31365800-31366200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr16:31365800-31366200	Bivalent Enhancer	Adipose Nuclei	Adipose
27	chr16:31365800-31366600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr16:31365800-31366600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr16:31365800-31366600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:31365800-31366800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr16:31365800-31366800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr16:31365800-31366800	Enhancers	K562	blood
33	chr16:31365800-31367200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr16:31365800-31367800	Enhancers	Spleen	Spleen
35	chr16:31366000-31366200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr16:31366000-31366200	Enhancers	Brain Hippocampus Middle	brain
37	chr16:31366000-31366200	Weak transcription	Pancreas	Pancrea
38	chr16:31366000-31366400	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr16:31366000-31366400	Enhancers	Lung	lung
40	chr16:31366000-31366800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr16:31366000-31366800	Enhancers	A549	lung
42	chr16:31366000-31367200	Bivalent Enhancer	Placenta	Placenta
43	chr16:31366000-31368800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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