Variant report

Variant	rs7188278
Chromosome Location	chr16:31482749-31482750
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	POLR2A	chr16:31482368-31484665	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr16:31482611-31482811	ProgFib	skin:	n/a	n/a
3	CTCF	chr16:31482535-31484727	SK-N-SH	brain:	n/a	chr16:31484226-31484235 chr16:31484229-31484247 chr16:31484230-31484246 chr16:31484222-31484235
4	POLR2A	chr16:31482491-31484623	IMR90	lung:	n/a	n/a
5	RCOR1	chr16:31482222-31484670	IMR90	lung:	n/a	n/a
6	POLR2A	chr16:31482491-31484872	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr16:31482304-31484722	HUVEC	blood vessel:	n/a	n/a
8	MAZ	chr16:31482463-31484780	IMR90	lung:	n/a	chr16:31483448-31483458 chr16:31483468-31483478
9	TCF12	chr16:31482567-31483362	A549	lung:	n/a	n/a
10	POLR2A	chr16:31482404-31484770	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31482147..31485412-chr16:31724579..31726445,3	MCF-7	breast:
2	chr16:31463491..31466396-chr16:31481913..31484379,2	K562	blood:
3	chr16:31482449..31485901-chr16:31517810..31523430,5	MCF-7	breast:
4	chr16:31481310..31483531-chr16:31880897..31883874,2	MCF-7	breast:
5	chr16:31481376..31484276-chr16:31519285..31521056,3	K562	blood:
6	chr16:31466606..31474995-chr16:31481116..31490982,25	MCF-7	breast:
7	chr16:31481496..31484305-chr16:31498079..31499870,2	MCF-7	breast:
8	chr16:31482515..31485868-chr16:31497342..31499348,3	MCF-7	breast:
9	chr16:31465649..31475592-chr16:31481764..31491028,24	MCF-7	breast:

Variant related genes	Relation type
TGFB1I1	TF binding region
ENSG00000140675	Chromatin interaction
ENSG00000260625	Chromatin interaction
ENSG00000197302	Chromatin interaction
ENSG00000260740	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000259874	Chromatin interaction
ENSG00000261474	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000140688	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11150626	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11865835	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13143	0.94[CEU][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13337037	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34081766	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3934739	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6565235	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6565236	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8062314	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9926717	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9934336	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][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	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	nsv905751	chr16:31431360-31489033	Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
rs7188278	AHSP	cis	parietal	SCAN
rs7188278	AC026471.6	cis	lung	GTEx
rs7188278	TAOK2	cis	parietal	SCAN
rs7188278	PRR14	cis	cerebellum	SCAN
rs7188278	FBXL19	cis	cerebellum	SCAN
rs7188278	SLC5A2	cis	lung	GTEx
rs7188278	INO80E	cis	parietal	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31471800-31483000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:31472600-31483000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:31476200-31482800	Weak transcription	Psoas Muscle	Psoas
4	chr16:31477800-31483600	Weak transcription	Brain Substantia Nigra	brain
5	chr16:31478800-31483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr16:31478800-31483200	Weak transcription	Pancreas	Pancrea
7	chr16:31478800-31484000	Weak transcription	K562	blood
8	chr16:31479000-31482800	Weak transcription	Brain Anterior Caudate	brain
9	chr16:31479200-31482800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:31479200-31482800	Weak transcription	Liver	Liver
11	chr16:31479200-31483000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr16:31479200-31483000	Weak transcription	Fetal Brain Female	brain
13	chr16:31479200-31483200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:31479600-31483000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr16:31480000-31482800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr16:31482200-31483400	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr16:31482400-31482800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr16:31482400-31482800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:31482400-31482800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:31482400-31482800	Flanking Active TSS	Aorta	Aorta
21	chr16:31482400-31482800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr16:31482400-31482800	Enhancers	Placenta	Placenta
23	chr16:31482400-31482800	Enhancers	Left Ventricle	heart
24	chr16:31482400-31482800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr16:31482400-31482800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr16:31482400-31483000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr16:31482400-31483000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:31482400-31483000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:31482400-31483000	Active TSS	Colonic Mucosa	Colon
30	chr16:31482400-31483000	Flanking Active TSS	NHDF-Ad	bronchial
31	chr16:31482400-31483000	Flanking Active TSS	NHLF	lung
32	chr16:31482400-31483200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:31482400-31483200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr16:31482400-31483200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:31482400-31483200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr16:31482400-31483200	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr16:31482400-31483200	Flanking Active TSS	Fetal Lung	lung
38	chr16:31482400-31483200	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr16:31482400-31483200	Flanking Active TSS	NH-A	brain
40	chr16:31482400-31483200	Flanking Active TSS	Osteobl	bone
41	chr16:31482400-31483400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
42	chr16:31482400-31484400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr16:31482600-31482800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr16:31482600-31482800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr16:31482600-31482800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr16:31482600-31482800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:31482600-31482800	Enhancers	Primary B cells from cord blood	blood
48	chr16:31482600-31482800	Enhancers	Primary hematopoietic stem cells	blood
49	chr16:31482600-31482800	Enhancers	Brain Hippocampus Middle	brain
50	chr16:31482600-31482800	Enhancers	Esophagus	oesophagus

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