Variant report

Variant	rs11150626
Chromosome Location	chr16:31491982-31491983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31491800-31492713	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr16:31491817-31492975	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr16:31491775-31492777	U87	brain:	n/a	n/a
4	POLR2A	chr16:31491969-31492401	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr16:31491750-31492903	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr16:31491828-31492952	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr16:31491941-31492042	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr16:31491962-31492569	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr16:31491711-31492724	U87	brain:	n/a	n/a
10	POLR2A	chr16:31491884-31492768	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr16:31491842-31492494	PFSK-1	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31486386..31493720-chr16:31496174..31501149,12	MCF-7	breast:
2	chr16:31491042..31492934-chr16:31724495..31726823,2	K562	blood:
3	chr16:31470583..31473018-chr16:31491234..31494131,2	MCF-7	breast:
4	chr16:31489272..31492078-chr16:31509160..31511521,2	K562	blood:
5	chr16:31487154..31492170-chr16:31516854..31521226,9	K562	blood:
6	chr16:31491434..31493805-chr16:31716545..31718864,2	K562	blood:
7	chr16:31490676..31492263-chr16:31495628..31497859,2	K562	blood:
8	chr16:31463232..31465351-chr16:31489348..31492023,2	K562	blood:
9	chr16:31190754..31192466-chr16:31491835..31493754,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC5A2	TF binding region
ENSG00000260625	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000140675	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000260740	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000261474	Chromatin interaction
ENSG00000197302	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11865835	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13143	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.91[LWK][hapmap];0.83[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13337037	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34081766	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3934739	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4519345	0.90[JPT][hapmap];0.84[YRI][hapmap]
rs4889548	0.92[JPT][hapmap]
rs4889673	0.92[JPT][hapmap]
rs6565235	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6565236	1.00[CEU][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6565242	0.92[JPT][hapmap];0.94[YRI][hapmap]
rs7188278	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8057401	0.92[JPT][hapmap]
rs8062314	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9926717	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9934336	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935222	0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
4	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
5	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
6	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
7	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
8	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
9	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11150626	AHSP	cis	parietal	SCAN
rs11150626	SLC5A2	cis	lung	GTEx
rs11150626	INO80E	cis	parietal	SCAN
rs11150626	TAOK2	cis	parietal	SCAN
rs11150626	FBXL19	cis	cerebellum	SCAN
rs11150626	AC026471.6	cis	lung	GTEx
rs11150626	PRR14	cis	cerebellum	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31484400-31492000	Weak transcription	Right Atrium	heart
2	chr16:31486600-31495800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:31486800-31495800	Weak transcription	HMEC	breast
4	chr16:31487400-31493400	Weak transcription	HSMM	muscle
5	chr16:31488800-31492200	Weak transcription	Small Intestine	intestine
6	chr16:31488800-31495800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:31489000-31492000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr16:31489000-31495800	Weak transcription	Gastric	stomach
9	chr16:31489400-31492000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:31489400-31492200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:31489400-31492200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr16:31489400-31492200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:31489400-31492600	Enhancers	Duodenum Mucosa	Duodenum
14	chr16:31489400-31492800	Enhancers	Fetal Intestine Large	intestine
15	chr16:31489400-31496000	Weak transcription	NH-A	brain
16	chr16:31489400-31496200	Weak transcription	Fetal Lung	lung
17	chr16:31489400-31496200	Weak transcription	A549	lung
18	chr16:31489400-31498600	Weak transcription	Esophagus	oesophagus
19	chr16:31489400-31498600	Weak transcription	Ovary	ovary
20	chr16:31489600-31492000	Weak transcription	Right Ventricle	heart
21	chr16:31489600-31492400	Weak transcription	Stomach Mucosa	stomach
22	chr16:31489600-31492600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:31489600-31498600	Weak transcription	Left Ventricle	heart
24	chr16:31489600-31498800	Weak transcription	Aorta	Aorta
25	chr16:31489800-31492000	Weak transcription	Colon Smooth Muscle	Colon
26	chr16:31489800-31492000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr16:31489800-31492200	Weak transcription	Spleen	Spleen
28	chr16:31490000-31494400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr16:31490000-31498400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr16:31490000-31498600	Weak transcription	Liver	Liver
31	chr16:31490200-31493400	Bivalent Enhancer	HepG2	liver
32	chr16:31490400-31492000	Weak transcription	Adipose Nuclei	Adipose
33	chr16:31490400-31492000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr16:31490400-31492200	Weak transcription	Placenta	Placenta
35	chr16:31490600-31492200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr16:31490600-31492800	Enhancers	Fetal Intestine Small	intestine
37	chr16:31490600-31498600	Weak transcription	Pancreas	Pancrea
38	chr16:31490800-31492200	Weak transcription	Lung	lung
39	chr16:31490800-31493600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:31490800-31496000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr16:31491000-31492000	Weak transcription	Fetal Stomach	stomach
42	chr16:31491000-31492000	Weak transcription	Osteobl	bone
43	chr16:31491200-31492600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:31491200-31493000	Weak transcription	HSMMtube	muscle
45	chr16:31491200-31495200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr16:31491200-31495800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:31491400-31492000	Weak transcription	NHLF	lung
48	chr16:31491400-31492600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:31491400-31492600	Enhancers	Fetal Muscle Trunk	muscle
50	chr16:31491400-31492600	Enhancers	Stomach Smooth Muscle	stomach

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