Variant report

Variant	rs8049308
Chromosome Location	chr16:82695002-82695003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11863510	0.82[CHB][hapmap]
rs11866558	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs11866677	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs11866729	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs11866737	0.83[ASN][1000 genomes]
rs16957983	0.83[ASN][1000 genomes]
rs16957992	0.83[ASN][1000 genomes]
rs16957996	0.83[ASN][1000 genomes]
rs16957999	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs16958024	0.91[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs3844413	0.82[CHB][hapmap];0.80[GIH][hapmap];0.81[ASN][1000 genomes]
rs3844414	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs3852730	0.81[ASN][1000 genomes]
rs3852731	0.82[CHB][hapmap]
rs3910224	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs3910225	0.82[CHB][hapmap];0.80[GIH][hapmap];0.82[ASN][1000 genomes]
rs3910226	0.86[CHB][hapmap]
rs58685808	0.89[ASN][1000 genomes]
rs58720047	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs60209981	0.83[ASN][1000 genomes]
rs60407766	0.84[ASN][1000 genomes]
rs7187680	0.82[CHB][hapmap];0.80[GIH][hapmap]
rs7194506	0.81[ASN][1000 genomes]
rs7196157	0.91[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs7205401	0.82[CHB][hapmap];0.80[GIH][hapmap]
rs74028506	0.96[ASN][1000 genomes]
rs74028507	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs74028508	0.89[ASN][1000 genomes]
rs74028509	0.89[ASN][1000 genomes]
rs74028510	0.94[ASN][1000 genomes]
rs74030924	0.83[ASN][1000 genomes]
rs8043944	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8048610	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8053933	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs8057927	1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1065896	chr16:82213517-82731994	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv833305	chr16:82563888-82722084	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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
9	nsv907022	chr16:82680391-82718030	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv907023	chr16:82680391-82751932	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA	n/a	inside rSNPs	diseases
11	nsv1065303	chr16:82685793-82758280	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
12	nsv542999	chr16:82685793-82758280	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8049308	CDH13	cis	parietal	SCAN
rs8049308	PKD1L2	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82683200-82695200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr16:82688200-82696000	Weak transcription	Fetal Heart	heart
3	chr16:82690000-82697800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr16:82690000-82698800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:82690200-82700400	Weak transcription	Right Ventricle	heart
6	chr16:82690200-82709000	Weak transcription	Aorta	Aorta
7	chr16:82693200-82695200	Enhancers	Fetal Muscle Trunk	muscle
8	chr16:82693400-82698600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:82693600-82701600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:82694200-82695200	Enhancers	Psoas Muscle	Psoas
11	chr16:82694200-82696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:82694200-82697000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr16:82694200-82728400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:82694400-82695400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:82694400-82698200	Enhancers	Fetal Muscle Leg	muscle
16	chr16:82694400-82699800	Weak transcription	NHEK	skin
17	chr16:82694400-82700400	Weak transcription	HMEC	breast
18	chr16:82694400-82705200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr16:82694400-82709000	Weak transcription	NH-A	brain
20	chr16:82694600-82695200	Flanking Active TSS	HSMM	muscle
21	chr16:82694800-82695200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr16:82694800-82695400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr16:82694800-82696200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:82694800-82697400	Weak transcription	Left Ventricle	heart
25	chr16:82695000-82695400	Enhancers	HSMMtube	muscle
26	chr16:82695000-82702800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr16:82695000-82708800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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