Variant report

Variant	rs954044
Chromosome Location	chr16:77341333-77341334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11640996	0.90[CHB][hapmap]
rs11641546	0.87[CHB][hapmap]
rs11643269	0.81[CHB][hapmap]
rs11866007	0.86[CHB][hapmap]
rs12716826	0.82[ASN][1000 genomes]
rs17713161	0.90[CHB][hapmap]
rs17770036	0.90[CHB][hapmap]
rs17770042	0.90[CHB][hapmap]
rs1981983	0.81[CHB][hapmap]
rs2562122	0.83[YRI][hapmap]
rs274519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[ASN][1000 genomes]
rs274534	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.83[TSI][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs274537	0.86[ASW][hapmap];0.90[LWK][hapmap];0.82[MKK][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes]
rs6564427	0.85[CHB][hapmap]
rs6564428	0.86[CHB][hapmap]
rs6564430	0.81[CHB][hapmap]
rs6564431	0.81[CHB][hapmap]
rs7199634	0.90[CHB][hapmap]
rs7202576	0.81[CHB][hapmap]
rs7206250	0.90[CHB][hapmap]
rs8049128	0.81[CHB][hapmap]
rs8053462	0.88[MKK][hapmap]
rs8063520	0.81[CHB][hapmap]
rs891132	0.81[CHB][hapmap]
rs965382	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9674420	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055234	chr16:77003426-77467286	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1062349	chr16:77039764-77458731	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv542967	chr16:77039764-77458731	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv934211	chr16:77281069-77396084	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1065714	chr16:77285659-77385518	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs954044	ADAMTS18	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77311600-77344200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:77328000-77357600	Weak transcription	Adipose Nuclei	Adipose
3	chr16:77329200-77389800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:77333200-77342000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:77334400-77341600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:77334600-77341600	Weak transcription	NH-A	brain
7	chr16:77336400-77341800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:77338600-77341600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr16:77338600-77349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:77339200-77341600	Weak transcription	A549	lung
11	chr16:77339400-77342800	Enhancers	Dnd41	blood
12	chr16:77339600-77342600	Enhancers	Primary T cells from cord blood	blood
13	chr16:77340000-77341600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:77340000-77341600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:77340200-77341400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:77340400-77341400	Weak transcription	Thymus	Thymus
17	chr16:77340600-77341600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr16:77340600-77342800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:77340800-77342000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:77341200-77342800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:77341200-77342800	Enhancers	HMEC	breast
22	chr16:77341200-77343200	Enhancers	HUVEC	blood vessel

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