Variant report

Variant	rs1000078
Chromosome Location	chr16:82782587-82782588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1000076	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10438634	0.84[ASN][1000 genomes]
rs10514557	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10514558	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10514559	0.94[CHB][hapmap]
rs1157118	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11646288	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11646321	0.94[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11647530	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11647888	0.83[CHD][hapmap];0.81[AMR][1000 genomes]
rs11648238	0.80[AMR][1000 genomes]
rs12103370	0.85[JPT][hapmap]
rs12448904	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs13332390	0.81[CHD][hapmap]
rs1350888	0.86[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs1350889	0.86[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs1462035	0.94[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs1462037	0.82[ASN][1000 genomes]
rs1462043	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17183029	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17183071	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17183279	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17183490	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17273696	0.81[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17274555	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17274597	0.89[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.80[MEX][hapmap];0.85[ASN][1000 genomes]
rs17274793	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17274905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126369	0.84[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2169446	0.84[JPT][hapmap]
rs2318186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2318187	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2318190	0.81[CEU][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28374534	0.80[ASN][1000 genomes]
rs41345948	0.85[YRI][hapmap]
rs4238723	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4293370	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4559899	0.82[CHD][hapmap]
rs4620944	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4783262	0.81[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs4783263	0.82[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4783266	0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55713633	0.93[ASN][1000 genomes]
rs58786779	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62034474	0.80[ASN][1000 genomes]
rs62034479	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62034480	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62034481	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62034482	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62034484	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7185447	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7189103	0.85[YRI][hapmap]
rs7197336	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7197344	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7197523	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7201087	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7201338	0.87[ASN][1000 genomes]
rs8044955	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8045447	0.85[YRI][hapmap]
rs8046067	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8046098	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8048858	0.85[YRI][hapmap]
rs8049363	0.85[YRI][hapmap]
rs8060282	0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[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	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1059718	chr16:82564054-82810003	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv573379	chr16:82713551-82887631	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
7	esv2751616	chr16:82714696-82852296	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1067216	chr16:82719694-82821762	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
9	nsv543000	chr16:82719694-82821762	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1064438	chr16:82762729-82788901	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv907026	chr16:82765607-82812853	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1066132	chr16:82769526-82847359	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv543001	chr16:82769526-82847359	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1000078	ZDHHC7	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82766800-82788600	Weak transcription	HMEC	breast
2	chr16:82768600-82784800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:82769200-82785200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:82770000-82782800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:82774400-82792200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:82774600-82787400	Weak transcription	NHEK	skin
7	chr16:82781000-82782600	Enhancers	HSMM	muscle
8	chr16:82781600-82789000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:82781800-82782600	Enhancers	Adipose Nuclei	Adipose
10	chr16:82781800-82783400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr16:82781800-82785400	Enhancers	HUVEC	blood vessel
12	chr16:82781800-82788400	Weak transcription	Fetal Heart	heart
13	chr16:82781800-82788600	Weak transcription	Right Atrium	heart
14	chr16:82781800-82788800	Weak transcription	Aorta	Aorta
15	chr16:82782000-82782800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr16:82782000-82787200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:82782000-82790000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr16:82782200-82786200	Weak transcription	NH-A	brain
19	chr16:82782200-82787200	Weak transcription	NHDF-Ad	bronchial
20	chr16:82782200-82787200	Weak transcription	Osteobl	bone
21	chr16:82782200-82787600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr16:82782200-82788400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr16:82782200-82790000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:82782400-82787000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr16:82782400-82789200	Weak transcription	HSMMtube	muscle

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