Variant report

Variant	rs2169447
Chromosome Location	chr16:82787387-82787388
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10514560	0.95[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs12103370	0.87[CHD][hapmap]
rs1350888	0.82[JPT][hapmap]
rs1350889	0.82[JPT][hapmap]
rs16958347	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs17274597	0.82[JPT][hapmap]
rs1870843	0.87[CHD][hapmap]
rs8060282	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 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
14	nsv1055547	chr16:82784440-82801892	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv2761928	chr16:82784440-82806653	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv573381	chr16:82784943-82805384	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2169447	ADAD2	cis	cerebellum	SCAN
rs2169447	ZDHHC7	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82766800-82788600	Weak transcription	HMEC	breast
2	chr16:82774400-82792200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:82774600-82787400	Weak transcription	NHEK	skin
4	chr16:82781600-82789000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr16:82781800-82788400	Weak transcription	Fetal Heart	heart
6	chr16:82781800-82788600	Weak transcription	Right Atrium	heart
7	chr16:82781800-82788800	Weak transcription	Aorta	Aorta
8	chr16:82782000-82790000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr16:82782200-82787600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr16:82782200-82788400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr16:82782200-82790000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:82782400-82789200	Weak transcription	HSMMtube	muscle
13	chr16:82782600-82790200	Weak transcription	Adipose Nuclei	Adipose
14	chr16:82783800-82788600	Weak transcription	Psoas Muscle	Psoas
15	chr16:82784800-82789400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr16:82785000-82788800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:82785200-82794200	Weak transcription	Lung	lung
18	chr16:82786400-82788600	Weak transcription	Left Ventricle	heart
19	chr16:82786600-82787400	Weak transcription	HUVEC	blood vessel
20	chr16:82786800-82790800	Enhancers	NH-A	brain
21	chr16:82786800-82793800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:82787000-82788000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr16:82787000-82790000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:82787200-82787800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr16:82787200-82787800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:82787200-82787800	Enhancers	HSMM	muscle
27	chr16:82787200-82787800	Enhancers	NHDF-Ad	bronchial
28	chr16:82787200-82787800	Enhancers	Osteobl	bone
29	chr16:82787200-82789000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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