Variant report

Variant	rs749754
Chromosome Location	chr16:77469249-77469250
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	CEBPB	chr16:77469125-77469403	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr16:77469189-77469264	HepG2	liver:	n/a	n/a
3	SIN3A	chr16:77468177-77469628	H1-hESC	embryonic stem cell:	n/a	chr16:77468948-77468957

Variant related genes	Relation type
ADAMTS18	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1032720	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10871337	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11640928	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11646638	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11860094	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11860106	0.81[ASW][hapmap];0.88[CHB][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12595934	0.81[CHB][hapmap];0.83[YRI][hapmap]
rs12918718	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12925025	0.88[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap]
rs12927898	0.81[ASW][hapmap];0.88[CHB][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1366541	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1366545	0.88[CHB][hapmap];0.84[JPT][hapmap];0.91[YRI][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1389516	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1389517	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1389518	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1389519	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1493889	0.81[ASW][hapmap];0.88[CHB][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2172624	0.89[ASN][1000 genomes]
rs34958839	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4887907	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4888630	0.94[ASN][1000 genomes]
rs4888631	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4888633	0.90[ASN][1000 genomes]
rs7185964	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7190156	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7195243	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7195757	0.87[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.82[MKK][hapmap];0.83[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7199315	0.90[ASN][1000 genomes]
rs7199469	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7200116	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7204308	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7500233	0.80[ASN][1000 genomes]
rs923871	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1066258	chr16:77229953-77521919	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv542968	chr16:77229953-77521919	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv2761916	chr16:77277005-77555833	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1059194	chr16:77281068-77745928	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv542969	chr16:77281068-77745928	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1061875	chr16:77451850-78003403	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv906957	chr16:77457066-77643421	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv869119	chr16:77458671-78008053	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	esv3361728	chr16:77467476-77470324	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs749754	ADAMTS18	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77467600-77469400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
2	chr16:77467600-77469400	Bivalent/Poised TSS	Fetal Kidney	kidney
3	chr16:77467800-77469800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr16:77467800-77469800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr16:77468000-77469400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:77468000-77469400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:77468000-77469600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr16:77468000-77469600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:77468000-77469600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr16:77468000-77469800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr16:77468000-77470000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr16:77468200-77469400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:77468200-77469400	Bivalent Enhancer	Placenta	Placenta
14	chr16:77468200-77469400	Bivalent/Poised TSS	Thymus	Thymus
15	chr16:77468200-77469600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr16:77468200-77469600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr16:77468200-77469600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr16:77468200-77469600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:77468200-77469800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr16:77468200-77469800	Bivalent Enhancer	Fetal Stomach	stomach
21	chr16:77468400-77469400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr16:77468600-77469400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:77468800-77469400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:77469000-77469400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr16:77469200-77469400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:77469200-77469400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
27	chr16:77469200-77469400	Bivalent Enhancer	Brain Germinal Matrix	brain
28	chr16:77469200-77469400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr16:77469200-77469400	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr16:77469200-77469400	Flanking Bivalent TSS/Enh	Ovary	ovary
31	chr16:77469200-77469400	Flanking Active TSS	HUVEC	blood vessel
32	chr16:77469200-77469400	Bivalent Enhancer	NH-A	brain
33	chr16:77469200-77469600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr16:77469200-77469600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
35	chr16:77469200-77469600	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr16:77469200-77469600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
37	chr16:77469200-77469800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
38	chr16:77469200-77470000	Bivalent Enhancer	Fetal Lung	lung

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